Image credit: The Inheritance Documentary
The Inheritance (2014) is a documentary that highlights the impacts of Huntington’s disease (HD) across several generations of a family. The disease personally affects New Zealander and film creator Bridget Lyon, who uses the film’s platform to explore her family history of Huntington’s disease.
Bridget first brings us back to 1814 when a woman named Margaret was born. She gave birth to seven children and was soon after committed to the Aberdeen Lunatic Asylum in the United Kingdom. The youngest child, James, moved to New Zealand and soon developed symptoms typical of Huntington’s disease. The disease continued to travel through the family, moving next to his son William, who then passed it on to Mavis and, finally, Bridget’s mother, Judy.
Once Bridget catches us up to the present, she explores the various damaging effects of the disease. She describes Huntington’s disease as the “worst known disease to man.” Bridget explains the perceptions of the disease within families, noting that her grandmother was often confused for an alcoholic. It wasn’t until Judy had three children did she learn, finally, what disease had afflicted the Bridget’s family for so many generations. Through scientific advancement and the availability of genetic testing, identifying and diagnosing Huntington’s disease became much easier.
While stigma is often a major problem in the HD community, Bridget noted that her parents were open about the disease. They were not limited by its presence, taking their children on many adventures throughout Bridget’s childhood.
The Inheritance does an excellent job exploring the science of the disease as well. Many prominent scientists and activists such as HDBuzz co-founder Dr. Ed Wild and South African scientific researcher Dr. Michael Hayden are featured in interviews. Bridget and these experts explain how the disease gene was located in 1993 near the top of chromosome 4. This discovery allowed individuals like Judy to get tested for the disease.
Furthermore, the film describes the impacts of HD on the brain, noting the deterioration of the basal ganglia. Researcher Anthony Hannah explains how the cerebral cortex is one of the most evolved parts of the brain and this region is one of the most impacted by HD. The Inheritance is thorough in its description of the effects Huntington’s disease has on the brain, using multiple scientific experts to explain the disease process in easy to understand terms.
Using her life story, the narrator Bridget describes what it is like to make life decisions regarding the disease. She discusses her own thought process regarding the decision to test. She even describes the very personal decision of attempting to have another child using pre-implantation genetic diagnosis via in vitro fertilization. This process allows a lab technician to test for embryos without the mutant huntingtin gene. Those embryos are then implanted in the womb. Bridget and her husband Jeff successfully have a child who will never have Huntington’s disease.
Bridget outlines the devastation the disease had on previous generations, but also the impacts it has on the current and future ones. Bridget has several siblings who are at risk for the disease. She uses the film to highlight various perspectives on genetic testing, highlighting her siblings diverse set of opinions. Each sibling has a different outlook on genetic testing and various methods on how they will cope with the disease, whether they have it or one of their siblings does.
Overall, The Inheritance is meticulous in its description of the Huntington’s disease experience. The information this film presents is well researched and verified by a variety of Huntington’s disease experts. Using her personal narrative, film creator Bridget Lyon accurately portrays the challenges and hopes of living in a Huntington’s disease family.
There is limited information on Huntington’s disease in China. However, in 1992, researchers at the Chinese University of Hong Kong published Huntington’s disease in China: A hypothesis of its origin. As with many other non-European populations, HD’s origins in China’s coastal provinces indicate that it likely spread as a result of interactions between European and Chinese traders.
Between 1984 and 1991, the prevalence of HD in Hong Kong was 3 to 7 patients per million. This population appeared to be predominately males who experienced an earlier disease onset. The first instances of HD were noted in 1959 and again in 1962. Historically, war and natural disasters disrupted living patterns and caused mixing of populations that increased the prevalence of HD outside of the original coastal provinces. However, compared to other regions, the spread of HD in China is rather limited and has remained predominately in these coastal regions.
This research is over 20 years old. More comprehensive statistics are needed to understand the true prevalence of the disease, particularly the prevalence of HD in women as this population is most likely underreported due to their status in society in the 1980’s and 1990’s.
Chinese Huntington’s Disease Network
The Chinese Huntington’s Disease Network was launched on December 10, 2011 in Shanghai. This organization seeks to help the estimated 300 affected families in the region by increasing awareness about HD and improving quality of care.
For Further Reading^
Leung, C. M., et al. “Huntington’s disease in Chinese: a hypothesis of its origin.” Journal of Neurology, Neurosurgery & Psychiatry 55.8 (1992): 681-684.
Madam Secretary; Season 2, Episode 6; Catch and Release
Madam Secretary is a fictional television drama that follows the work of Elizabeth McCord, the United States’ Secretary of State. In this particular episode, the State Department learns that a new leader of ISIS has released a video showing the beheading of an American aid worker. After some research into the “Jihadi Judd” character who committed the act, Secretary McCord learns that not only is this leader an American, but the son of a State Department Secretary employee, Judith Fanning.
Secretary McCord calls Judith Fanning into her office after learning that her son, Adam Fanning, grew up in Cairo and learned Arabic in an American international school. During his time in college, he became radicalized. The mother claims that she has not been in contact with her son for over a year and begs the Secretary for his safe return.
However, after further research, Secretary McCord realizes that there is more to the story.
Nadine [State Department Employee]: The husband’s death complicates things.
Secretary McCord: How? I thought it was a car accident?
Nadine: I remembered the circumstances when I reviewed her file. He lost control of the car due to a seizure caused by Huntington’s disease. He was barely 43 years old and he had been misdiagnosed for almost two years. My understanding is that she blames herself for not catching it sooner.
Secretary McCord: This is a morbid detail to note.
Nadine: Too morbid?
Secretary McCord: No, I think you might actually be on to something.
Upon learning that Adam Fanning’s father had Huntington’s disease, Secretary McCord knows Judith Fanning is hiding something. Furthermore, it is discovered that Judith Fanning contacted her son within the last six months and had sent thousands of dollars to the Middle East for the purchase of a drug called Tetrabenazine. Secretary McCord decides to question Judith Fanning in person one more time.
Judith Fanning: I didn’t realize you’d be the closer.
Secretary McCord: When my own employee lies to my face, I like to find out why.
Judith Fanning: I can’t help you. You want to kill my son.
Secretary McCord: I want to stop him from killing innocent people. You should too.
Judith Fanning: I want my son back, the way that he was.
Secretary McCord: Before he became radicalized. Before you found out he had Huntington’s disease. Early onset sufferers are likely to have children who exhibit symptoms even earlier. Is that what happened to Adam?
Judith Fanning: Last year, he e-mailed me that he wanted to talk about his father’s symptoms so we Skyped. And there he was, he was shaking like a leaf.
Secretary McCord: Did he say where he was or who he’d been with?
Judith Fanning: Nothing. I told you, I will be of no help.
Secretary McCord: Your computer records show shortly before you sent the money, you searched online for information on a drug, Tetrabenazine. It’s the only medicine proven to help with early onset spasms. It’s what the money was for, wasn’t it?
Judith Fanning: I know what Adam did was unforgivable. He’s still my son. Promise me that you’ll give him a chance, promise that you won’t kill him.
Secretary McCord: I’m sorry.
Later to her assistant:
Secretary McCord: Get any traces of Tetrabenazine crossing ISIS territory…make it clear that no one outside our inner circle knows why we’re looking into it.
During the rest of the episode, we witness Secretary McCord’s thought process as she tries to figure out how to stop Adam Fanning from killing more innocent Americans. Through a conversation with her brother, Secretary McCord learns that a courier is transporting large orders of Tetrabenazine, a prescription medicine that reduces motor spasms and uncontrolled movements, across ISIS territory to Adam Fanning. After verifying the courier and Adam Fanning’s identity, Secretary McCord watches over video surveillance as President Dalton issues the order to kill both the courier and Adam Fanning through a drone strike.
This episode of Madam Secretary does an accurate job describing Huntington’s disease. Judith Fanning knows that her son is symptomatic with the disease, as demonstrated from the tremors she sees from a Skype video call. Since Adam Fanning is in his early 20’s, it is likely that he has Juvenile Huntington’s disease. However, a genetic testing would be needed to determine his CAG count. If it is over 38 repeats, it indicates the presence of Huntington’s disease.
Furthermore, Tetrabenazine is currently the only FDA approved drug on the market for Huntington’s disease. It reduces occurrences of chorea and other symptoms that result from motor control. Secretary McCord notes that early sufferers often have children with early onset as well. While there is correlative evidence that this may be true, one cannot make a causal claim that all early onset sufferers will have symptomatic children with similar age of onset due to genetic variations during reproduction.
Overall, this episode does an accurate job of reflecting the medical science and treatments of Huntington’s disease, albeit in an unfortunate scenario involving issues of national security.
K Powers 2016
In her first novel, Rules for 50/50 Chances, author Kate McGovern highlights the challenges of being at risk for Huntington’s disease through Rose, a 17-year-old Bostonian who is navigating the challenges of senior year of high school while managing her mother’s worsening HD symptoms. Her mother, who did not know she was at-risk for HD, was diagnosed when Rose was 12 years old. Rose is a talented ballet dancer who has spent the last five years of her life watching her mother decline from the genetic surprise to her family. Rose tries to figure out which colleges she wants to attend, she tries to balance the reality of her genetic status and her family’s needs. All the while, she is falling in love with a teenager who must also help his family manage another genetic condition—sickle cell anemia.
McGovern does an excellent job highlighting the thought process of a young person affected by the disease not only through her parent’s experience, but her own genetic status as well. McGovern consults Huntington’s disease experts, accurately explaining the disease genetics early on.
“Ours is a mutated gene on chromosome 4. The gene’s called huntingtin, and if yours is messed up like my mother’s, you end up with Huntington’s disease. Don’t ask why the two huntingtons—the gene and the name—are spelled differently; I have no idea. What I do know is that if you’ve got that mistake on chromosome 4, like my mother does—the tiniest typo in a book with a billion words—then your huntingtin gene goes haywire and basically wreaks havoc in your brain. Things start deteriorating in your mind and your body, until you’re not the person you once were, and then they keep deteriorating until you die. Slowly, painfully, and without any chance of reversal…Oh, and as far as my genes are concerned—it doesn’t matter that my father doesn’t carry the mutation on chromosome 4. I only need to inherit the mutated gene from my mother to be royally screwed. Which means that after watching my mother fall apart, I have a fifty-fifty chance of falling apart, too.” (Page 4)
In many novels and works of fiction, the experience of Huntington’s disease can be overdramatized in a way that fetishizes neurodegenerative diseases and portrays them as short-term conundrums for a few “victims” who have little autonomy or control over their lives. McGovern, however, manages to balance the reality of the devastation with the emotions and feelings of a young person at risk for the disease. Early on, McGovern describes Rose’s internal conflict as she attends a Rare Genes Walk with her family.
“But now, the sight of all those kids in wheelchairs and their parents plastering smiles across their faces like they’re actually okay with this makes me feel kind of nauseous. Plus, Mom can’t walk the whole way by herself anymore, so she uses her own wheelchair, and walking alongside her makes me feel like I’m supposed to be one of those smile-plasterers, too. It’s all, ‘Hey, world, I’m so strong!’ I’m not.” (Page 8)
This book highlights the many ways in which Rose is still a normal teenager. She is falling in love for the first time, experiencing anxiety over college applications, going to school, hanging out with her best friend, and continuing to follow her passion of ballet. However, while Rose is able to pursue these activities, she does so with the presence of Huntington’s disease in her life. Furthermore, her own at-risk status haunts her as she tries to decide whether or not she wants to pursue dancing, move across the country for school, and so on.
McGovern writes in a way that allows the reader to follow Rose’s decision making process as Rose decides what is best for her. While genetic testing is a big deal, Rose acknowledges that testing positive at 18 years of age would allow her many more healthy years before her symptoms would begin. Rose’s mother was blindsided by the diagnosis, as Rose’s grandfather died before they could determine Huntington’s disease as the reason for his illness. Rose, to some degree, does not want to experience the same shock if she were to find out she had HD once she was symptomatic.
“It’s not that I’m waiting to make a decision, waiting to see where life takes me, waiting to find out what happens next. What I’m waiting on has already happened. It happened before I was born. If I knew the answer, if I knew I didn’t have the mutation, then the answer to those questions could still be maybe, at least the maybe would be in my control. And if I have it, if I’m positive like Mom, what’s the point in imagining all the possibilities? Might as well be real about it and get back to the business of dying…Then again, if I have it, I’ll still have probably the next twenty years before my symptoms really start, maybe longer. Do I really want to get ready to die ahead of time?” (Page 49)
Rose’s character is thoughtful and considerate, yet able to express her frustration and anger in a way that is believable and understandable. While she is fairly confident in her decision to pursue genetic testing at 18 years of age, she presents both the pros and cons of genetic testing, understanding why somebody may or may not decide to pursue the test as she has. However, in some ways, it is also clear that Rose is selfish in her decision making process. Genetic testing is a process that affects the entire family, even if it is just one person receiving their results. When Rose decides to pursue genetic testing without her father’s consent, she is doing so while risking her father’s feelings. While it is Rose’s right to undergo genetic testing, this decision highlights the extent to what Huntington’s disease is a family disease. Sometimes, a dose of selfishness is needed to pursue the genetic test, but doing so can have repercussions for one’s family members, which makes the decision to test all that much more difficult.
Rules of 50/50 Chances not only explores the role of family, but also friendship in the Huntington’s disease experience. Rose’s best friend Lina is always present to offer a listening ear and supportive advice while her friend decides whether or not she wants the test. In one scene, Rose is finding it difficult to cope with her college decisions and her desire to protect her mother. Lina reminds Rose: “You’re not required to sacrifice every kind of fun because you have a sick parent.” (Page 137). Lina’s character is necessary for reminding Rose that, while she is dealing with a challenging family disease, it does not need to dictate her life. This reminder of autonomy and control over one’s life is a valuable reminder for young people affected by HD.
Towards the end of the novel, Rose pursues genetic testing. She visits her family’s doctor, Dr. Howard, to discuss possible results. As Dr. Howard explains:
“If your test is negative, if it shows that you have between ten and thirty-five repetitions of the DNA bases CAG on the fourth chromosome of the huntingtin gene, you are in the normal range and will not develop HD. If you have more than thirty-nine repetitions, you will develop HD at some point in your life. And between thirty-five and thirty-nine—”…”I know,” I interrupt. I’ve read all this online. “It’s considered borderline. I may or may not develop the disease.” Certain uncertainty. A lifetime of questioning every decision I can’t make immediately, every time I slurp my soup.”
“That’s right. Rose, really, speaking as a physician with a huge amount of experience with HD patients and families, I’d advise you to wait on this. You’re seventeen. Even if you had a positive test result, it will be years before you develop symptoms of HD. Put it off at least a few more years. Consider it then, when you start thinking about a family.” (Page 175)
Dr. Howard is doing his best to counsel his young patient. While Rose eventually sees a genetic counselor to help her through the process, Dr. Howard reveals his bias towards young people testing. While this viewpoint may not be helpful to Rose, it does highlight the conflict a physician might face when guiding a young person, or anyone for that matter, through such a harrowing life choice. Considering the rates of suicide in the Huntington’s disease community, a doctor might feel hesitation to recommend a genetic test that may send an individual into depression or worse. Furthermore, he requests that she reconsider the test when she wants a family. At that point, she may consider whether or not she wants to risk passing the gene on to children or if she wants to pursue alternative methods that would eliminate the risk of inheritance through in-vitro fertilization.
At the end of the novel, Rose resolves many of the dilemmas she introduces at the beginning of the text. She learns how to accept love from the boy that challenged her thoughts on romantic relationships throughout the novel. Rose decides which college to attend. She makes a final decision on her genetic testing. Ultimately, Rose acknowledges that, while her family was handed an unlucky genetic sequence, it does not have to dominate her life. Whichever decision she makes, Rose knows that Huntington’s disease may influence her life, but HD will only consume her if she lets it.
K Powers 2016
NPR’s This American Life with Ira Glass explores a wide range of stories that encompass social issues of all varieties. Several times, this show has covered true stories of those affected by Huntington’s disease.
Dr. Gilmer and Mr. Hyde
One of the most popular podcasts, titled Dr. Gilmer and Mr. Hyde, is the story of a small town doctor who murders his father for mysterious reasons. Many years later, we learn that Huntington’s disease was the reason behind many of his behaviors. This is the story of how the murder took place and how the man learned he had Huntington’s.
The prologue begins with a setting of the scene. We are in a small town in North Carolina. After a local doctor is sent to jail for killing his own father, a new doctor is hired to fill the position at the local clinic. This new doctor learns that his predecessor was responsible for “strangling [his father] and sawing off [his father’s] fingers.” Even stranger, the murderer’s name is the same as the new doctor’s: Dr. Gilmer.
For clarification, the new doctor in town is Dr. Benjamin Gilmer, and the former doctor imprisoned for murder is Dr. Vince Gilmer. As the new Dr. Gilmer sees more and more patients, his familiar name causes them to speak up about their former doctor. His patients describe the kindness with which Dr. Vince Gilmer treated them, often forgoing payments to help those who were struggling financially.
This man described by his patients seems out of place with the man who committed the murder. However, one patient, Jerol Davis, notes that Dr. Vince Gilmer’s father probably had Alzheimer’s disease. Alzheimer’s disease symptoms often manifest in a similar manner as Huntington’s disease. Considering that Huntington’s disease is a much more stigmatized illness, it makes sense that people would mistake it for a more recognized disease.
Dr. Benjamin Gilmer becomes very curious about the case because the murderous behaviors of Dr. Vince Gilmer seem out of character. He begins to conduct his own investigation to explain Vince’s actions.
At this point, we transition to Act One. Dr. Benjamin Gilmer is becoming more paranoid for his safety, as he starts to imagine Dr. Vince Gilmer escaping prison and coming for him because he took Vince Gilmer’s job.
Dr. Benjamin Gilmer: “I mean, he obviously was crazy when he did this act. It didn’t sound like it was an intentional thing that he– it wasn’t premeditated, as I understand it. I mean this is the trouble. Like I’m still– I’m still confused by whether he was good or not. You know, it’s kind of like living with a ghost in your house. And you tell your kids that it’s a friendly ghost. But you never know where the ghost is coming from.”
We soon learn that in the previous year Dr. Vince Gilmer was involved in a bad car accident. Due to symptoms like chorea, this accident could be caused by a loss of control associated with a movement disorder like Huntington’s disease. Furthermore, some postulated that Dr. Gilmer purposefully crashed the truck in order to obtain a new one. If this is true, this kind of irrational behavior could also be indicative of Huntington’s disease symptoms. If his behavior was motivated by suicidal intentions, that would also fall in line with HD, as the number one “cause of death” for HD patients is suicide. (For more on suicidal ideation, click here.)
Shortly after the accident, Dr. Vince Gilmer suddenly announces a divorce between him and his wife. This is soon followed by his development of a drinking problem. (For more information on substance abuse and HD, click here.)
Next, we learn that Dr. Vince Gilmer’s father, Dalton Gilmer, resides in a psychiatric hospital. We know that he is taking antipsychotic medication and needs a wheelchair or walker at 60 years old. As Vince is moving his father from the hospital to a nursing home, he takes an unusual detour.
We begin to learn more about Vince’s past. His father, Dalton, sexually abused him and his sister, which included “inappropriate sexual remarks and gropes.” Dalton’s wife and Vince’s mother thought that Dalton’s violence and inappropriate behavior was a result of his service in Vietnam.
As Dr. Gilmer was driving the truck from his father’s nursing home, Dalton continued to say “filthy things,” causing Vince to lose self-control and begin to have a compulsion to kill his father. (For more information on sexual impulses and HD, please visit our website here.)
After killing his father, Dr. Vince Gilmer panics and dumps the body, removing his father’s fingers so his body can not be identified. At first, Dr. Benjamin Gilmer postulates that this behavior is a result of traumatic brain injury, which he had studied prior to medical school.
Upon discussion with the detective on the case, we learn that this case is unique in that Dr. Vince Gilmer “was able to kill his father and show no remorse.” During his confession, we receive a major clue in the mystery behind why this murder occurred: lack of serotonin. It is described in the podcast as follows:
“Serotonin, a hormone, a neurotransmitter. If you don’t have the right level of it in your brain, it can affect your mood. Which is why many antidepressants increase your serotonin level. These drugs are called SSRIs, selective serotonin reuptake inhibitors. If you stop taking them abruptly, you can have suicidal thoughts, severe agitation, even psychosis.”
Vince Gilmer admitted that he had abruptly stopped his SSRI regimen and found himself experiencing extreme bouts of irritability. In his own words, he felt “mentally retarded.” And these were just the mental handicaps Vince Gilmer was facing. During an analysis by a clinical psychologist, Vince Gilmer was noted as acting in the following way:
“…spoke in a halting fashion, fidgeted while sitting, stood with a stooped posture, occasionally paced, and gesticulated broadly with his hands while talking. This presentation was very dramatic and not consistent with known anxiety or psychotic disorders.“
Act One ends with Vince Gilmer’s guilty verdict, resulting in a life sentence without possibility of parole. However, one adamant doctor decides to pursue the case further, as explored in Act Two.
As our podcast investigators continue to dive deeper, they decide to interview Vince Gilmer in prison. He has resided in maximum security prison for six years and is still exhibiting symptoms similar to those during his court proceedings. As interviewer Sarah Koenig and Dr. Benjamin Gilmer speak to him, they notice repetitive body movements and an inability to focus. When Sarah is on the phone, we hear Vince Gilmer constantly repeat himself. While never confirmed in the podcast, Vince Gilmer could be experiencing a classic HD symptom of perseveration, the inability to stop one’s self from repeating an action. (For more information on perseveration, click here.)
Dr. Benjamin Gilmer believes that Vince Gilmer had been wrongfully convicted—he was clearly experiencing symptoms of a mental illness. To confirm his theories of SSRI withdrawal, he brought in a psychiatrist, but the psychiatrist quickly rejected the SSRI withdrawal hypothesis, as well as that of traumatic brain injury. As the two are leaving the prison, psychiatrist Steve Buie asks a transformative question: “Could this be Huntington’s?”
The podcast describes HD in the following manner:
Huntington’s disease is a horrible condition, one of the worst. Like a cruel trifecta of Alzheimer’s, Parkinson’s, and Lou Gehrig’s disease rolled into one. It causes severe emotional and physical symptoms. It’s progressive. It’s painful and highly inheritable. If your parent has it, you’ve got a 50/50 chance of getting it… Typically it starts to affect a person between the ages of 35 and 45. Vince’s behavior began to change when he was about 40. And it’s fatal. Once you have symptoms, the brain and body dwindle away. You usually die after about 20 years from a complication like pneumonia or choking.
The psychologist and Dr. Benajmin Gilmer review Vince Gilmer’s symptoms: behavioral disturbances, hallucinations, irritability, moodiness, paranoia, psychosis, abnormal and unusual movements, including facial movements, grimacing, quick sudden jerking movements, unsteady gait, disorientation or confusion, loss of judgment, loss of memory, personality changes, speech changes, anxiety, and stress.
The team knew that genetic testing was the best method of determining if Vince Gilmer actually had the disease, but they were unsure how to go about facilitating a test through prison. Unfortunately, we learn that Vince Gilmer has recently attempted suicide and was moved to a psychiatric hospital. After talking to the social worker there, we learn that it is now possible to test Vince Gilmer.
(The matter of consent is not made explicitly clear in this section of the podcast. We learn that the psychiatrist meets with Vince and that they draw blood, but we are not made aware of Vince Gilmer consenting to a blood draw, especially as a ward of the state. However, consent is always of utmost importance when it comes to genetic testing. No one should be coerced into the process.)
When the results come back, we learn that Vince Gilmer is indeed positive with a CAG count of 43. The CAG count refers to the repeats in the DNA of the building blocks cytosine (C), adenine (A) and guanine (G). (For more information the genetic testing process, watch our HOPES video here.)
Vince Gilmer’s new psychiatrist, Dr. Colin Angliker, delivers the news to Vince. In his own words, he was nervous because delivering such news is “more or less like a death sentence that you’re telling somebody.” However, Vince Gilmer seemed relieved to hear of the news. This reaction is likely due to the extended period of time over which Vince Gilmer has so desperately tried to prove his illness to others. With the diagnosis, Dr. Angliker is able to provide the proper medications.
As noted in the podcast, “Huntington’s kills off brain cells, neurons, which decrease production of neurotransmitters. So all this time, it’s possible Vince did have a serotonin-deprived brain. It’s possible he was right.”
(It took one doctor only two visits to realize that he had a neurologic illness that many other psychiatrists did not recognize. This gap in observation may be a result of the highly stigmatized nature of Huntington’s disease, particularly in rural regions such as North Carolina where medical establishments may not be as informed on the latest neurological disease research. Huntington’s disease has a long history of misdiagnosis, which is still a major problem today.
While Huntington’s disease did not “create a murderer,” it was likely that Vince Gilmer was suffering from symptoms of the disease during the killing. Huntington’s “can cause erratic, agitated, and sometimes uncontrollable behavior.” Dr. Vince Gilmer did note that he wasn’t feeling like himself at the time of the murder. The criminal justice system failed Dr. Vince Gilmer by allowing him to self-represent and failing to properly diagnose the existence and severity of his disease for so many years.)
Dr. Benjamin Gilmer checks in on Vince Gilmer a few months later. While Vince Gilmer is feeling far better, it is revealed that he surprisingly knows little to nothing about the disease. Dr. Benjamin Gilmer must explain that this disease is hereditary and that his sister, her children and her grandchildren are all at risk, as one of their parents passed on the mutant gene. Dr. Benjamin Gilmer also reveals that there are no treatments or cures specific to HD, only methods of treating certain symptoms.
At the end of the podcast, we learn that Dr. Benjamin Gilmer is still trying to get Vince Gilmer released from prison. They are working with a legal team to secure his release.
Overall, the representation and disease description of HD was accurate in this podcast. Due to the limited knowledge and stigma surround the disease, it is not uncommon for law enforcement and HD patients to clash, for the justice system is unable to properly deal with the symptoms that HD causes and how they might be misconstrued as criminal behavior. For more resources on HD and law enforcement, please visit HDSA’s law enforcement guide here.
To listen to the full podcast, click here.
It Says So Right Here
For this episode, What Are You Doing for the Test of Your Life?, an individual, the youngest of six sisters, decides to undergo genetic testing.
Kelly, 28, is at risk for HD. Her mother has Huntington’s disease and Kelly’s grandfather suffered from the disease as well. The podcast begins on the morning before Kelly receives her test result. Kelly is nervous and says that she has “butterflies.” She describes this day like Christmas: “You wake up, open your presents, except it could be the worst present of your life, or the best.”
Of her five other sisters, there are at least two individuals who show signs of HD. Kathy, Kelly’s oldest sister, is 42 years old. She was primarily responsible for taking care of Kelly and Kathy’s mother growing up. Kathy is now symptomatic. Upon interviewing her sister, Kelly admits one of her fears: “What if your mind is trapped inside this body that can’t move?”
Kelly and her sisters describe their mother’s current condition and what it was like growing up in a family affected by HD. Kelly admits that she found herself often embarrassed and mad at her mom, a common occurrence among children with parents affected by the disease. While the children may or may not understand what is happening, many parents start showing symptoms around a child’s teenage years, a difficult time for self-development and relationships, particularly when trying to forge friendships and socialize.
Kelly then asks Kathy why she never got tested. Kathy responds:
Kathy: Insurance, denial of wasting my life…
Kelly: …like you feel like you didn’t do what you should have done?
Kathy: Yeah. I should have lived more.
Kelly: For me, it is, I don’t know if I’ll be liberated if they tell me I have it because, like you said you think about it everyday and if you know you have it, like you said, I’m going to live balls to the wall. I’m going to do everything, I’m going to make a list and do everything I want to do.
Kathy: None of us should be having kids.
Kelly: For me, it’s more so the care of the child. Now I don’t want my kid to go through what I went through. I had you to raise me, thank god, but with Mommy, I saw the most terrible part of someone that was supposed to be my mother.
At this point, we are introduced to the complex and difficult conversation of child rearing in HD families. Kathy believes that none of her sisters should have children, presumably because of the risk of passing on the mutant gene. However, for Kelly, she does not want to have children because she does not want to subject her children to the type of childhood that Kelly had.
We later learn that Kelly’s niece, Kathy’s daughter, Kayla, will accompany Kelly to the genetic testing appointment. Kayla describes Kelly as her only family support. Kayla was genetically diagnosed with Huntington’s disease, but has not told her mother since her mother is already experiencing depression, and Kayla fears pushing her over the edge. Kayla deals with difficulties in finding support systems:
I don’t have any family support besides Kelly, like mom or dad. Kelly is the only person I have who understands it, that is behind me on it. I haven’t told anyone in my family really besides Kelly. We’ve talked about it our whole lives and I don’t want her to have it but it’s like one part of me that if Kelly has it, I’m not alone. So I have really mixed feelings on it. Since I’ve found out my results, I smoke more. I really do. Now I’m like, screw it. Before people were like, “Oh it’s so unhealthy, you’ll get cancer” and I’m like what more can happen, you know what I mean.
Support systems are of utmost importance in HD families. Sometimes, it is not possible to find those support systems within one’s own family. However, if possible, one may be able to obtain the support of a counselor or local support group. (For a listing of HD support groups in your area, click here.)
Kelly describes her method of coping with the results. She has planned a packed few weeks of activities in order to distract herself and provide a healthy outlet for coping. Kayla, upon learning her test results, spent the night eating pizza and watching stand up comedy routines. Every individual has different methods of coping. It is important to identify which is best for you and to ensure that method is healthy and does no harm to one’s self or others.
Kelly documents her genetic results appointment. Her genetic counselor attempts to engage Kelly, her fiancé, and Kayla in conversation:
Genetic counselor (GC): Have you been nervous or pretty chill?
Kelly: I just want to throw up.
GC: You do? Okay. Do you want me to cut right to the chase?
Kelly (laughing): I don’t know.
GC: Okay, Well, I’m happy to do that, um, unless you guys wanted to talk a little bit…
In unison her boyfriend, Kelly: No. We just want to know.
Boyfriend: We just want to get to it.
GC: Some people want to have a conversation about what would happen, you know, okay great. Your results were normal. You’re not going to have Huntington’s disease. It’s not what you were expecting, I know.
(Analysis: This conversation highlights the sensitive role of a genetic counselor. It is clear that the genetic counselor did not have a previous conversation with Kelly regarding the methods by which she wanted her tests results delivered. The genetic counselor makes Kelly’s tensions rise as she tries to engage in friendly conversation. The counselor even notes that “some people want to have a conversation.” However, the genetic counselor should have ascertained that desire before the results day appointment.)
After the shock has worn off, Kayla, the niece, asks for some time alone. As somebody who has tested positive for the disease, it is difficult to hear a loved one is negative, and escaped, in a sense, from the disease. While the results severely impact the life of the individual tested, HD is a family disease. These results affect many family members and loved ones in a variety of ways, which explains why Kayla hides her disease status from her mother. Kelly regrets bringing Kayla. While she wanted Kayla’s support, she retrospectively realizes the impact that the results have on her niece.
The genetic counselor and Kelly discuss Kayla’s reaction. Kelly notes that now, at least she can take care of Kayla. This is a heartbreaking moment as it exposes the lifelong impacts of Huntington’s disease. While one individual tests negative, it is very likely that they become caregivers for other members of the family affected by the disease.
Overall, this podcast accurately reflects the challenges of genetic testing and the emotional investment in the disease.
The television medical drama House is one of the most famous examples of the use of Huntington’s disease in the media. One of the main characters, Thirteen, is affected by Huntington’s disease in many different capacities, and several episodes are devoted to exploring the emotional impact of HD. In this review, we attempt to parse out each episode and understand the societal implications of the portrayal of HD, understanding as well that much of HD’s recognition, at least within the United States, is as a result of the show’s coverage of this stigmatized disease.
Season 4, Episode 8: You Don’t Want to Know
In this episode, Thirteen has an interaction with the main doctor, House, in which House accuses her of being sick and hiding it after Thirteen drops a file and is very flustered by it. Thirteen states that there is “fun in not knowing” what affects her, but she is clearly disturbed by her shaky hands and strange body movements throughout the episode. At this point, Thirteen knows that she is at risk for Huntington’s disease, as her mother had it, but she has not been genetically tested to confirm her gene status.
Later on, House says Thirteen knows the answer to her strange movements. He was snooping through her wallet and found an old picture of what he assumed to be Thirteen’s mother around the age of 32. House postulates that a person doesn’t update a photo in 20 years because the individual is not talking to you or that individual is dead. House further states that Thirteen is “pretty young to have a dead mom.”
House: I googled her obituary. Said she died at New Haven Presbyterian after a long illness. Parkinson’s.
Thirteen: Huntington’s chorea.
House: I’m sorry.
Thirteen: I’m leaving when this case is over.
House: No, you’re not.
Thirteen: You don’t want a doctor on your team who’s slowing losing control of her body and mind.
House: Huntington’s isn’t the only thing that causes tremors.
Thirteen: You think it’s just a coincidence?
House: I think you’re the only one on the team who drinks decaf. I’ve been switching it out with regular ever since you dropped that file. Your trembling is because you’re hopped up on caffeine. First file wasn’t my fault. Medical explanation for that is people drop things.
Thirteen: I’ve been walking around thinking I’m dying.
House: You are.
Thirteen: You don’t know that.
House: You have Huntington’s; it’s inevitable.
Thirteen: No, you don’t know that because I don’t know that.
House: How could you not get tested? If your mom had it, that’s a 50% chance. You’re a bomb waiting to explode.
Thirteen: Not knowing makes me do things I think I am afraid to do. Take flying classes, climb Mt. Kilimanjaro, work for you.
House: Yes because if you knew, you couldn’t do any of those things.
In this scene, we learn that Thirteen not only lost her mom to Huntington’s disease, but that she is also at-risk for the disease herself. House assumes that Thirteen has tested positive for HD, which is why he says that the development of her disease is “inevitable.” If one is at-risk for HD, the chance of inheritance is 50%. However, if one does have the gene for the disease, the individual will present symptoms if they live long enough, usually between the ages of 30 and 50 years.
House cannot fathom why Thirteen would not want to know, which is a common phenomenon for individuals who did not grow up affected by the disease. As a physician, House should be more sensitive towards Thirteen’s hesitancy to test. However, in the context of the show, this attitude aligns with House’s oft politically incorrect and unprofessional commentary.
Later in the show, we see House obtain a water bottle from Thirteen in order to test it without her consent. We can assume that he tested her saliva; however, most genetic tests are done with a blood draw. Towards the end of the episode, Thirteen walks into House’s office with an envelope in her hand.
Thirteen: What the hell is this?
House: Looks like an envelope with the results of a genetic test for Huntington’s inside.
Thirteen: Did you look?
House: I thought it would be fun to find out together.
Thirteen: I don’t want to know.
House: No, you’re afraid to know.
Thirteen: I might die. So could you. You could hit by a bus tomorrow. The only difference is that is you don’t have to know about it today so why should I?
House: I don’t have to know the lottery numbers, but if someone offered them to me, I’d take them.
Thirteen: You spend your whole life looking for answers because you think the next answer will change something, maybe make you a little less miserable. And you know that when you run out of questions, you don’t just run out of answers. You run out of hope. You glad you know that?
Thirteen walks out and House throws the envelope in the trash.
As mentioned before, the character House is insensitive to the traumatic effects of growing up in a Huntington’s disease family. No one should be coerced into discovering his or her HD status. Explicit consent from the at-risk individual is required. Additionally, it is highly recommended that the at-risk individual see a genetic counselor before undergoing the genetic testing process to better understand one’s rights during the testing, as well as have an opportunity to see a psychologist and a neurologist in order to identify potential barriers to genetic testing. Again, HD is traditionally tested through blood samples, not a spit swab.
Season 4; Episode 15: House’s Head
House reprimands Thirteen for getting distracted by her personal life while treating one of their critically wounded friends. He finds her later in the bathroom where he confronts her from the next stall.
Thirteen: You’re right. I’m screwing up.
House: Why are you screwing up?
Thirteen: I didn’t even like her.
House: Did you hate her?
Thirteen: Not enough to want her dead.
House: Was that guilt? That just leaves fear? Young woman dying. Young doctor dying in fact. That sound familiar?
Thirteen: Yeah. I am at-risk for Huntington’s. I’ve dealt with it.
House: By not getting tested. Dealing with it by not dealing with it? It’s clearly working beautifully.
Thirteen: You are the champion of not dealing with your problems.
House: My grandson gave me a mug that says that. Okay, enough hand holding. Deal with it, get back in there or pack up your stuff.
Thirteen: You’re screwing up this case worse than I am.
In this dialogue, we see a continuation of coercion from Dr. House, who wants his employee, Thirteen, to undergo genetic testing. It appears that Thirteen may be experiencing concentration difficulties, which could be an experience of Huntington’s disease or another issue all together. However, Dr. House does have a valid concern that one of his doctors might be jeopardizing other patients due to an unknown illness. Thirteen, however, may be fearful of her personal reaction to genetic testing and may not feel comfortable enough to discover her gene status, despite the consequences it may have for her employment.
Season 4; Episode 16: Wilson’s Heart
In this episode, through visuals, we see Thirteen test herself for Huntington’s disease alone. She receives a piece of paper that says “Huntington’s disease…Pos”, meaning that she has tested positive for the mutant huntingtin gene. This means that if she lives long enough, Thirteen will begin to experience symptoms of Huntington’s disease and any children that she may have will also have a 50% chance of inheriting the disease. This scene has no dialogue and is overplayed by a song. We do not discover her reaction to the genetic testing results at this point.
Season 5; Episode 1: Dying Changes Everything
Thirteen: Why is everyone leaping to conclude a strong career woman has been made sick by her strong career? Let’s not be twelve; it’s insulinoma in her pancreas; it’s making her hyperglycemic.
House: Great. Now everyone knows.
Dr. Taub: You knew the patient had cancer?
House: Is that what she said? I thought she said, “I am suddenly irrationally defending a woman’s strong career even though in reality, she’s just a glorified grunt because I’m trying to convince myself that it’s okay not to have a life because I don’t have a life and I was tested for Huntington’s and my lifespan’s been cut in half.” I’ve been waiting two months for her to say that.
Associate doctors follow her out the room.
Dr. Cutner: Are you okay?
Dr. Foreman: Could be years before you see any symptoms.
Dr. Taub: Why wouldn’t you tell us?
Thirteen: I don’t have Huntington’s.
Dr. Cutner: Are you lying to us…because it’s none of our business?
Thirteen: If it’s none of your business then I shouldn’t have to answer these questions and I wouldn’t have to except House doesn’t want to answer questions about Wilson. He’s deflecting his own problems on to me.
Dr. Cutner: Are you deflecting now?
Thirteen: Time for the B12 cocktail and my life lesson.
Later, while discussing a case that requires aborting a high-risk pregnancy:
House: This has nothing to do with her genitalia and everything to do with your genetics.
Thirteen: You told me to get tested.
House: I didn’t know it was going to color your every medical opinion and every personal opinion.
Thirteen: You didn’t think a death sentence would…
House: People die. You, Amber, everyone. Don’t act like you just figured that out. I gave you a diagnosis. You don’t like it? There are exits on every floor.
Later, while trying to determine a reason for patient’s continuing ailments:
Dr. Taub: I know this is none of our business but if House thinks your Huntington’s is affecting you the maybe your really have…
Thirteen: It’s not that I have…
Dr. Taub: You’re desperate to do this without him. You’re trying to cure her. You’re trying to prove.. (Dialogue is cut off by another conversation)
Later, in conversation with the patient:
Patient: You’re not like me. Maybe you have wings.
Thirteen: I have Huntington’s chorea. Dozen years or so my nervous system, my cognitive skills even my emotional balance, they’ll all start to fray. I won’t be able to fly. I won’t be able to walk. I won’t be able to breathe.
Patient: And you want to make sure your life matters.
Thirteen: I don’t want it to just be tightening bolts and following instructions. I want something to be different because of me.
Patient: I am…not just because you saved my life. I’m applying for a job at a foundation, running the finance division. I mean, I don’t know if I am going to get it, but if I don’t, there are other foundations.
Later, in conversation with House:
House: I like you better now that you are dying.
Thirteen: I was wrong.
House: You took a shot.
Thirteen: She’s going back to work for that idiot. It’s pathetic.
House: You thought something would change?
Thirteen: She almost died…because of that job. Yeah I thought…
House: Almost dying changes nothing. Dying changes everything.
Thirteen begins to struggle with a separation of work and personal life. She is desperately trying to dismiss her disease among her colleagues, but is clearly distraught during her work shifts. House continues to be insensitive to Thirteen’s situation and threatens firing her if she continues to be distracted in her job. Unfortunately, one of the major issues facing Huntington’s disease is loss of employment. While the Genetic Information Non-Discrimination Act protects employees from genetic discrimination in the workplace, it is difficult to protect employees whose quality of work is deteriorating due to the disease. For more information on GINA and workplace challenges, visit http://hdsa.org/living-with-hd/gina/
Season 5; Episode 5: Lucky Thirteen
In this beginning of this episode, we learn that Thirteen has engaged in risky sexual behavior with multiple partners and has experimented with drugs. During one of her sexual encounters, her partner begins to seize and is rushed to the hospital. House meets her at the hospital.
House: I’ve been waiting for you to spiral out of control since your HD diagnosis, but this was more than I could hope for.
Later, the team discusses what could cause the patient’s symptoms. Thirteen says it was due to alcohol and ecstasy.
Dr. Taub: Wait, were you doing ecstasy?
Thirteen: That’s not diagnostically relevant.
House: It is if we are trying to diagnose how deep of a spiral you are on.
Later, in conversation with Dr. Foreman
Dr. Foreman: The thing you didn’t want House to find in your apartment, I found it.
(Thirteen stuffs a piece of paper in her pocket.)
Dr. Foreman: With a CAG count this high, it means you have less time than you thought. It’s understandable that you’re upset, it doesn’t mean you have to self-destruct.
Thirteen: It’s not noble for you to protect me from House if you’re just going to judge.
Dr. Foreman: There are things you should be doing: working out, improving balance and coordination…
Thirteen: Yeah, sounds like a blast. I’m having fun. Cramming as much fun into my life as I can.
Foreman: You are doing drugs, staying up all night, having sex with strangers
Thirteen: Sounds fun to me.
Later in this episode, House fires Thirteen for her drug use. Before he asks her to leave, he tells her to talk to her partner about life-threatening illness since Thirteen is in a similar position. This illness explains the patient’s earlier seizure. Thirteen, as we can see, is very much struggling with her diagnosis and is having difficulty finding healthy coping mechanisms.
House: Controlling women is as close as you can get to controlling what is going to happen to you.
Thirteen: And here I thought I was just into boobs.
House: Instead of getting sweaty with a stranger, why don’t you try taking it to the next level? Play God. Tell the girl that she has ten years to live. She has LAM (a lung disease).
House: This is not a test. You’re not getting your job back.
Thirteen: I know what it’s like to get this type of news. She shouldn’t have to get it from you.
Later, in conversation with terminally ill patient after revealing that she has less than 10 years to live:
Thirteen: I know you’re scared.
Patient: I don’t know what I feel.
Thirteen: You’re going to be numb for a few more days. Then you’re going to go home and cry for a few weeks. And then you get angry. Start telling yourself that nothing matters anymore. Start doing stupid things. Maybe you go out to bars and pick up a bunch of women
Thirteen shakes her head yes.
Patient: How long do you have?
Thirteen: Maybe a little more than you, maybe a little less. I’ll race you.
Thirteen struggles to maintain a healthy lifestyle, experimenting with risky behaviors of sex and drug use. As a result of her drug use, House fires her as he cannot have his doctors using drugs. While unusual to see HD patients engage in such high levels of risky behavior, it is not unheard of for HD patients to experiment with drugs, sex and alcohol. It is crucial that individuals affected by HD seek the support and help they need, whether it means reaching out to a physician, support group or professional therapist.
Season 5; Episode 9: Last Resort
Dr. Foreman: Got a minute?
Dr. Foreman: I’m consulting on a trial involving some CNS compounds.
Thirteen: While it’s true that no sometimes means yes, in this context…
Dr. Foreman: One’s a new Huntington’s drug. Phase 3 trials are showing real results delaying neuronal degeneration. Probably get you in.
Thirteen: No thanks.
Dr. Foreman: Are you doing anything about your disease, any type of program?
Thirteen: Nope, nor am I looking for a consult.
Thirteen is not interested in participating in clinical trials, despite the potential benefits to her health. It can be difficult for individuals to participate in clinical trials as it is a reminder of the presence of their disease and its progression. However, for those looking for a mechanism to cope or get involved with the research process, participating in clinical trials can be a very meaningful way to contribute. For more information on clinical trials and how to get involved, visit http://hdsa.org/hd-research/enroll-in-a-clinical-trial/
Later in this episode, Thirteen offers to take drug as part of a deal in a hostage situation in the hospital. House chastises Thirteen for risking her life, despite the fact that she says her life is essentially over. House even accuses Thirteen of making poor decisions as a result of degeneration caused by Huntington’s disease.
Thirteen: I’ll take it. [refers to experimental medication that the captor wants somebody to test out for his own illness]
House: This is a level of risk beyond anonymous girl on girl action.
Thirteen: They’re patients, I’m a doctor.
House: With a degenerative, drug unfriendly illness.
Thirteen: Everything’s not just some fascinating character flaw.
House: This is a genetic flaw. This is your Huntington’s speaking. This is you waving a white flag at the world.
Thirteen: Yeah, if I have a shortened life span, another reason why I’m objectively the right choice.
Later in the episode
House: You’re the coward. You’re so afraid of death. You just want to counter it, it gives you the illusion of control.
Later in a desperate encounter with the captor who has taken patients and doctors hostage, the man is attempting to force Thirteen to take more drugs to help him discover what is wrong with his health.
House: She has HD…this could screw up her liver.
Thirteen: Chances are slim. Chances of him shooting us on the other hand…
Captor: How long do you have to live?
Thirteen: 8, 10 years
House: Killing her is your chance to get personal?
Captor: Huntington’s does…doesn’t have a cure?
Captor: So if we get out of here…
House: If she were clinging to hope, she wouldn’t be taking more drugs.
Captor: Not knowing what was wrong with me made me miserable. Maybe that’s insane. Doing this, yeah: Insane. But I had something to gain. You can’t take risks with no upset at all.
House: I can’t decide which is riskier: taking crazy risks or taking advice on crazy risks from a crazed risk taker.
Later in conversation
Thirteen: You really don’t feel bad about killing me?
Captor: Not if you don’t feel bad about killing yourself.
Thirteen: I don’t want to die.
Captor: Yeah you do. You just don’t have the nerve to actually do it. You just want it out of your control. Well, it is, ‘cause I’ve got a gun.
Later in the episode, Thirteen is recovering from her risky intake of drugs by going on dialysis. At this point, Thirteen has changed her mind about her participation in clinical trials with Dr. Foreman.
Thirteen: About that Huntington’s drug trial.
After a traumatizing experience as a hostage and drug guinea pig, Thirteen realizes that she does want to make an effort to extend her life as long as possible. She decides that she will take up Dr. Foreman’s offer regarding the clinical trial.
Season 5; Episode 10: Let Them Eat Cake
In this episode, we learn from Dr. Taub that Thirteen started clinical trials at the beginning of the episode. At the clinic, Thirteen has flashbacks to her mother after seeing an HD patient in the clinic and is very visibly distressed. In the next scene, she is doing a finger speed test with Dr. Foreman. The dialogue is interrupted by Dr. Foreman’s instructions for the activity at hand.
Thirteen: Are there a lot of other people in the trial?
Dr. Foreman: There are people who already started it at Mercy so it’s pretty full. Stop. One more time.. No talking
Thirteen: I shouldn’t be here. It’s nepotism. I know the guy running the drug trials so I get a spot.
Dr. Foreman: You have Huntington’s so you get a spot. Stop. One more time. Just the fingers, no mouth.
Thirteen: The point of this thing is to improve neural cell longevity, which doesn’t matter much before symptoms so you should give my spot to someone…
Dr. Foreman: Shut up. Stop. You can stop feeling guilty. Your best tapping rate was .004 taps per second. It means your nerves are starting to degenerate.
Due to Dr. Foreman and Thirteen’s relationship, Dr. Foreman feels more inclined to inform Thirteen of her results. In most clinical trials, the clinicians will not reveal the results and often record it in a method that allows the participant to remain anonymous. It is unfair of Dr. Foreman to give Thirteen her results without her permission and consent.
In a later scene, Dr. Foreman arrives at Thirteen’s house as she missed her next clinical trial appointment.
Dr. Foreman: You never showed up.
Thirteen: Get out of my house.
Dr. Foreman: If I wanted to find proof that you were slipping back into your self-destructive pattern, confirm you weren’t worth my time. Instead, I found this. You followed all of my instructions to the letter. You’re probably better than any patient I have. So why are you the only one that can’t show up for appointments?
Thirteen: I came down, right after I was finished with the appointment with House. You were in your office with another patient. And there was another patient in the waiting room.
Dr. Foreman: Janet.
Thirteen: I’m well aware of what is going to happen to my body over the next 8 to 10 years, I do not need a visual reminder every time I walk into that place.
Dr. Foreman: That’s understandable. It’s human. And you need to get over it. You show up on time tomorrow or you don’t show up at all.
Thirteen is struggling with the presence of a symptomatic woman in the clinic, which is preventing her from making her appointments. Understandably, Thirteen wants to avoid these encounters as they are fairly traumatic to her and bring up old memories. However, she is allowing her struggles to prevent her from participating in meaningful clinical research that Dr. Foreman believes is helping her slow down symptoms. Sometimes, it is helpful to have a support system accompany an individual to clinical trial appointments. For others recently diagnosed, it may be too painful to participate. Their willingness to participate may be a matter of time and healing first.
In a flashback, Thirteen watches her mother get into a car from her window. She refuses to say goodbye to her mother. From the flashback, we can presume that this perhaps this is the last time Thirteen sees her symptomatic mother alive. She recounts a comment made by her father:
Thirteen’s Dad: Your mom is leaving. You’re going to regret this the rest of your life.
During the trial appointment, Thirteen sees the patient, Janet, who has sparked so many painful flashbacks.
Thirteen to Dr. Foreman: I’ll keep coming, but can you change my appointment time?
Dr. Foreman: I can’t. The schedule is full. You’re stuck with her, might as well get to know her.
Thirteen then has a flashback to ignoring her mother’s presence, but decides to acknowledge it, rather than bury it, and goes to help Janet who is struggling with her sweater.
Thirteen to Dr. Foreman: I lied to you the other night. That woman in the waiting room… She didn’t freak me out about my future. She freaked me out about my past.
Dr. Foreman: Your mother. It must have been horrible watching her die.
Thirteen: I wanted her to die. She just yelled so much and for no reason…just screamed at me in front of my friends. My father tried to explain to me that her brain was literally shrinking, that she didn’t mean it and it was the disease but I didn’t care. I hated her. I never said goodbye. And she died with me hating her.
Thirteen’s diagnosis is causing her to encounter painful and uncomfortable memories of her past. Janet, the woman in the waiting room, often sparks these flashbacks, making the appointments something Thirteen dreads as she fears encountering Janet. However, through conversations with Dr. Foreman and personal reflection, Thirteen attempts to reconcile her past and future, which we see through her personal and direct interaction with Janet at the end of the episode.
Season 7; Episode 1: Now What
In this episode, the team asks Thirteen about her pending leave of absence from work, but she refuses to tell them her reason for it.
Dr. Foreman: Why are you going to Rome? I found the flight information in your locker.
Thirteen: I love how everyone thinks it’s so quaint and childlike of me it is to expect a modicum of privacy around here.
Dr. Foreman: Your flight’s tomorrow. What’s so urgent in Rome?
Thirteen: I hear they wanna tear down the Coliseum to build a karaoke bar.
Dr. Foreman: [A clinic] in Rome is planning on starting a Huntington’s trial.
Thirteen: Seriously, I live to sing.
Dr. Foreman: I know they’ve been doing fetal neural transplantation. I also know that their subjects have increased risk of intracranial hemorrhage. This isn’t the time to join a trial. This research is in its infancy; so is your condition.
Thirteen: You read my note, you go through my locker, and then you decide you want to round it off by lecturing me on my life choices?
Dr. Foreman: I’m worried about you.
Thirteen: Oh that makes it all right then?
It should be noted that any clinical trial, medication, or research presented on a television drama should be viewed critically. While some dramas will attempt to portray accurate information about clinical trials and their risk, one should always check with their medical provider regarding available trials in the area.
This episode also highlights major privacy concerns. Thirteen seeks privacy over her medical information, but her fellow physicians do not respect these wishes. While Dr. Foreman has good intentions, it highlights the difficult line family, friends, and caretakers walk in order to allow their loved ones or patients the autonomy they desire while balancing good decision making.
Thirteen: So are you going to ask me about this Huntington’s trial and by that I mean give me your opinion?
Chase: No. there’s one thing though: Will you have sex with me?
Chase: Well, all this trauma is making you run away. I was in it for the long game. Deadlines been moved up.
Dr. Taub: So you’re really leaving. How long are you gone for?
Dr. Taub: The drug trial, sounds risky.
Thirteen: You don’t think I should do it. Message heard.
Dr. Taub: No, I approve. Living fast and dying young is crap if you have a chance of getting better. I say good for you.
Dr. Foreman: If I’m scared about this, I can’t imagine how scared you are. You shouldn’t be alone. If you want, I could fly over for a few days. Friends.
Thirteen: I appreciate that, but I think I’ll be okay. I guess we took the long way around to being friends.
In this episode, the members of the team are sharing their concerns and wishes for Thirteen as she prepares for her leave of absence. Thirteen is not pleased with the invasion of privacy and leaves.
Team: Where’s Thirteen?
Dr. Foreman: She’s not coming:
Dr. Taub: You mean she changed her mind?
Dr. Foreman: I called the hospital in Rome to see when she was scheduled for surgery.
Dr. Taub: Why would…
Dr. Foreman: Doesn’t matter. Point is she’s not even in the trial. Never heard of her. She’s been lying to us all day.
Chase: Well have you tried…?
Dr. Foreman: Both the phone lines have been disconnected. She’s just gone.
Season 7; Episode 18: The Dig
In this episode, we learn that Thirteen’s absence can be explained by a prison sentence. House drives to the prison to pick her up at the end of her sentence. In the next few scenes, we hear disjointed conversations between House and Thirteen as we try to piece together the reason she was imprisoned.
House: So what did you do?
Thirteen: You figured out I was in jail but you don’t know why?
House: I’ve been busy.
Thirteen: Excessive prescribing.
House: Not that busy. I know you plead down to excessive prescribing. Question was, what did you do?
Thirteen and House’s conversation takes an awkward turn after House discusses his break up with Dr. Cuddy. Ending the silence, Thirteen reveals the reason she was imprisoned.
Thirteen: I killed a man.
Scene ends abruptly.
Thirteen: You’re awfully quiet.
House: Sorry, it’s just how I get around people who recently killed a man.
Thirteen: It wasn’t…you know I’ve had a pretty rough year. Do you think you maybe we could just give this whole thing a rest?
House: You killed a man! You plead out to drugs. Hit and run on under the influence. Guy who you kneed in the groin was your date who dropped the dime. [refers to an earlier scene where Thirteen asks House to make a stop at a residential home, where she mysteriously decides to knee the man who opens the door]
Thirteen: I’m asking you to let it go.
House: I really wish I was the type of person who could do that.
House: So what did you do?
Thirteen: No more guessing?
House: I need to know. I can make some phone calls, we can speed up your medical board hearing. In the meantime, no one can stop me from hiring an assistant.
Thirteen: You were right this morning. I met a guy at a coffee shop, we went back to my place and he OD’d.
House: Damn, could have saved myself a job offer.
Thirteen: We both acted like idiots. And I ended up doing time. Guess he did more.
We soon learn that Thirteen’s confession is a lie. House accidentally catches Thirteen crying in their hotel room, forcing her to divulge more of her life story to House the next day.
Thirteen: When I was ten or eleven, my dad used to take us to the county fair…what?
House: Who’s us?
Thirteen: My mom and I.
House: Your mom, who had advanced stage Huntington’s. You have a sibling that you’ve never mentioned. Why’d you slip up now?
Thirteen: not everything means something
Later, in the same conversation
House: You don’t wake up in the middle of the night crying over a dead stranger. You confess to killing a man and then hide the details unless the details reveal more about you than the crime itself. You plead down to drugs, you got a horrible genetic disease, and a sibling who is suddenly on your mind. You euthanized your brother. That guy back at the house was the doctor who wouldn’t help you cover it up.
Thirteen: The guy back at the house was my cellmate’s boyfriend who cheated on her when she was inside.
House: Well, I was right about everything else.
Thirteen: He couldn’t do it himself. He was…the disease had progressed too far. He was flailing, he didn’t have any control over his own body. He pretty much lost control of his mind too, but every once and a while he’d have a few seconds of lucidity. He turned to me and he said, “It’s time.” I hooked up the IV. I used gloves I knew they’d get me on the drugs, but they couldn’t prove who pushed the plunger. (Thirteen cries.) I put in the needle and he just got quiet and it was over. Then I was alone. And one day, I will be that sick and there will be no one there when it’s time. I didn’t expect compassion from you; I would have taken commiseration; Hell, I would have taken revulsion, any emotional engagement at all. It’s no wonder Cuddy broke up with you.
Later, House offers to kill her when she no longer wants to live with Huntington’s disease. This episode highlights very serious issues within the Huntington’s disease community. Due to the debilitating nature of the disease, some HD patients express intention to kill themselves before they lose control of their body and mind. While death with dignity is available in a few states within the United States, it is a global issue that is perhaps one of the most controversial aspects of living with HD. If you or a loved one are ever in need of support, the Huntington’s Disease Society of America a support guide for crisis management that can be accessed here.
Season 7; Episode 22: After Hours
In the next episode, Chase discovers Thirteen had assisted her HD symptomatic brother with the attempt to end his own life. Chase responds.
Chase: You killed your own brother?
Thirteen: Yes, it was awful and devastating, but it wasn’t murder. He was sick and he wanted to die and I promised I would help. Now, please stop pacing and help me find this thing.
Chase: You promised your brother you’d euthanize him and you think you won’t feel bad about it as long as you keep your promise. That’s why you have this twisted obligation to keep all promises or your carefully constructed defense mechanisms could tumble down.
Thirteen: I saved my brother from a lot of pain.
Thirteen: Darien had to shoot that kid. It was the right thing. Completely justified. But it didn’t matter. She destroyed her life trying to forget. I’m afraid that’s what’s going to happen to me.
Chase: You really should talk to someone.
Thirteen: I talked to a therapist. It didn’t help.
Chase: Well maybe you should talk to someone who isn’t a therapist.
Thirteen: Do you really think you have any idea of what it’s like to talk to with something like this?
Chase: Let’s grab a coffee
Chase is an example of a strong support system for Thirteen. Often, issues faced by Huntington’s disease patients or loved ones are challenging to confront on their own. Sometimes it takes a listening and non-judgmental ear to help these individuals, whether it be a loved one, close friend or professional therapist. Self-care is perhaps one of the most important core elements of health for those affected by this disease. For more resources on living with HD, visit http://web.stanford.edu/group/hopes/cgi-bin/hopes_test/managing-hd/
Thirteen is one of the most well-known fictional TV characters to be affected by Huntington’s disease. Her story highlights the numerous challenges that face persons affected by HD. We followed Thirteen as she struggled with her decision to undergo genetic testing. We learned of her painful memories of her mother who also had the disease. And we understood the challenges that her community faced as they attempted to help her. House’s representation of the HD experience was accurate, but, at times, an overdramatized showcase of a devastating, stigmatized disease and the effects it has on friends, family, employers and the surrounding community. While it may not be the perfect method of educating the world about HD, House and Thirteen have done more to raise awareness of name recognition and symptoms than perhaps any other form of media to date.
In the Private Practice episode called “In Which Charlotte Goes Down the Rabbit Hole”, a character named Angie has misled her husband in believing she does not want a family. She has also led him to believe that he is infertile. Angie wants the doctors to lie on her behalf and tell her husband that she is infertile without disclosing the fact that she has prevented pregnancy with the use of a cervical cap. The doctors are concerned with Angie’s desire to lie to her husband regarding such a serious topic.
During this scene, Angie has returned to the medical office after the doctors told her they could not lie to her husband. She reveals a more complicated story regarding her desire to have children.
Angie: I know I shouldn’t have come back. But I looked up Dr. Montgomery on the Internet. You’re a genetic specialist right?
Dr. Montgomery: Yes.
Angie: I thought about what you said…that it’s better to know the truth.
Other doctor: So you told Ray that you don’t want any kids?
Angie: No, not that.
Other doctor: Angie, I don’t think we can help you here.
Angie: No, you have to. You have to help me. I need to know the truth.
Dr. Montgomery: The truth about what?
Angie: I need you to tell me whether or not I am dying.
In this previous scene, we are made aware that Angie might be dealing with something much more serious than infertility.
(Begin new scene)
Doctor Bennett: Huntington’s disease?
Angie: It’s a genetic disorder that causes…
Dr. Montgomery: A degeneration of the brain cells. We know.
Angie: So then you know how horrible it is? You lose control of your body, your brain atrophies, you can’t talk, you can’t eat, you just slowly die. And you’re just a shell. My mom had it, my grandmother had it…
Dr. Bennett: And you think you might have it?
Dr. Montgomery: If her mother had it then she has a 50/50 chance of inheriting the gene.
Angie: And if I have the gene I have a 100% chance of dying from the disease.
Dr. Montgomery: But you’ve never been tested?
Angie: I just wanted to live my life. And then I met Ray.
Dr. Bennett: And he doesn’t know that you could have Huntington’s?
Angie: I wasn’t looking to get married. It was just dating. And then we were in love. And then I waited too long to tell him. And he loved me so much I didn’t want to scare him. I didn’t want to scare me. but now…
Dr. Montgomery: He wants to have children.
Angie: I can’t have a baby knowing that I could pass this on. I can’t have a baby if I am going to die. Last night, Ray and I were watching TV in bed and he was thinking of baby names and my heart started to hurt, physically hurt. I want to think up baby names. I want to grow old with this man and our kids and our grandkids. And I thought, maybe I don’t have the gene.
Dr. Bennett: Maybe knowing the truth is better than hiding it.
Angie: I want the test. I want to know. I want to live.
In this scene, Angie is grappling with the decision to test for Huntington’s disease. She has not disclosed her at-risk status to her husband as she is afraid she would scare her husband and herself if she found out. Angie’s anxiety and hesitancy to test is not unusual in the Huntington’s disease community. In fact, according to a study from the University of Chicago, less than 10% of individuals at-risk for Huntington’s disease undergo predictive genetic testing as asymptomatic individuals. (Oster, Shoulson and Dorsey, 2011).
Dr. Bennett: Hey Violet, we might have a patient that we need you to see. Angie?
Violet: She still lying to her husband?
Dr. Bennett: It’s a little more complicated than that. She might have a terminal illness. He is setting her up in the exam room and I am going to draw blood in a few minutes.
Dr. Montgomery: Can you imagine? She finds the perfect guy, great marriage, they want kids. She was living the dream.
Violet: Not everyone has that dream.
Guy: Violet doesn’t believe in children. She acknowledges they exist because they scream at the restaurants. That’s about it.
Dr. Bennett: I used to be like that, before I had Maya. I was, then I had her, and I’m not saying it was a dream, but it’s pretty darn close.
Dr. Montgomery: You really don’t want children?
Violet: Look! Not everybody’s cut out for it. And it’s incredibly hard for a woman to point out that she doesn’t want kids.
As this scene plays out, we learn that Angie is deciding to pursue genetic testing as the physicians discuss the decision to have children. In this episode, the writers and producers show some bias in that many of the characters believe that there should be no barriers in starting a family. While not unreasonable to present this opinion on a television drama, its implications seep into medical advice given to Angie later in the episode as we will see later on.
Nurse: Angie’s set up in room 2.
Angie: I like the name Margaret, for a girl. We could call her Maggie or Meg. Or Henry for a boy.
Dr. Montgomery: Angie, if the tests come back positive, you’ll need to tell Ray.
Angie: Do you have children?
Dr. Montgomery: No
Angie: But you want them?
Dr. Montgomery: I do.
Angie: Have you thought of baby names?
Dr. Montgomery . Carson. It works for a boy or a girl.
Dr. Montgomery: Angie this is Dr. Violet Turner, she’s our psychiatrist.
Angie: I thought you were just going to tell me my test results. Oh…I have it. I really have it.
Dr. Montgomery: As of now, you have no symptoms. You could go years before you show any sign of illness.
Angie: Illness? You mean dementia, violent rages, wetting myself…
Dr. Bennett: A lot of research they are doing with repression proteins, very promising, hopefully in time…
Angie: Ugh, I don’t have time Dr. Bennett. Time is the one thing I don’t have. I’ve got a great life, an amazing husband, but no time. Dammit, and I don’t have time.
Dr. Turner: You are not alone. You have Ray.
Angie: No, I knew what I was getting into when I took that test. That stupid stupid test.
Dr. Turner: Why don’t you stay? We can talk.
Angie: I can’t, but thank you, all of you for trying to help.
Dr. Montgomery: What about Ray?
Angie: Don’t worry. I know what I have to do.
Genetic testing is an emotional process. For those who have watched loved ones experience the disease, testing can be traumatizing when experiencing it personally. For these reasons, it is incredibly important to find a qualified genetic testing center for HD such as a HDSA Center of Excellence in the United States or through recommendations from social workers. The genetic testing process should involve a neurological exam to test for existing symptoms, a psychiatric evaluation and meetings with a genetic counselor. These physicians should have taken greater care to prepare Angie for her test results and devise a strategy for coping with the results.
For more information on the process, watch our HOPES video on genetic testing here.
Ray: Dr. Montgomery!
Dr. Montgomery: Ray, how are you? How’s Angie?
Ray: Gone. She’s gone. Angie left me. I came home and I found her packing her suitcase and she said her appointment here was like some kind of wake up call. And then she just left.
Dr. Bennett: And that’s all she said?
Dr. Montgomery: Ray, why don’t you…
Ray: I don’t understand. She spends two minutes with two of you and now she throws in the towel on our marriage.
Dr. Bennett: Ray, please, calm down
Ray: I want to know. What the hell did you say to my wife?
Dr. Montgomery: Angie’s here.
Dr. Bennett: She finally responded to our messages?
Dr. Turner: Well it got her to come back. That’s something.
Dr. Bennett: Any ideas on what we say to her?
Dr. Turner: No, you said the baby making game would be fun. I’m not having fun.
Dr. Bennett: Uh, me either. Not with this one.
Dr. Turner: It’s not fair. Good people should get to have what they want.
Angie: I was heading to the airport. You said there was something with Ray.
Dr. Bennett: Ray came by to see us yesterday. He was worried sick about you, not to mention confused and hurt.
Angie: You didn’t tell him? Did you? You cannot tell him!?
Dr. Bennett: Angie, he’s your husband. He deserves to know the truth.
Angie: I let him think I left him. Then he can hate me. Let him move on, find someone, be happy.
Dr. Turner: He’s happy with you.
Angie: But he’s gonna, I’m gonna get so sick. I’m going to die. I don’t want to die.
Dr. Turner: Angie, you have a disease. And you will die. That’s the truth. Hiding it from Ray is not going to change that. But the bigger truth, the better truth is that you are alive now. You’re living. And you should get, you should get everything that life has to offer. You should get what you want. You should get to have a child, and a family and Ray. Just because you’re sick doesn’t mean you don’t get to live your life. Go home. Go tell Ray the truth. Go tell him what the future is and let him decide. A person should get to have a whole life.
It can be devastating for an individual to receive genetic testing results for Huntington’s disease, whether it is positive or negative. International genetic testing protocols for HD strongly encourage the presence of a support person at the various appointments and test result appointment. This individual serves as a secondary information receiver and provides emotional support to the individual testing. As we can see, the physicians in this episode allowed Angie to test without this support person and told her when she was alone and in a vulnerable state. They did not provide a strategy for coping with the results and let her leave the clinic alone without that plan. These types of plans can be essential for the safety and well being of the patient, as well as their loved ones, considering how traumatic it can be to receive such results. Angie, overwhelmed and burdened with this information, tries to leave her husband without revealing the true reason behind her sudden departure from her marriage. It is only when Ray confronts the doctors do they realize how devastating this type of test results can be on those related to the person as well.
As we learn in the next scene, Angie talks to Ray about her diagnosis and returns to the clinic with her husband to discuss family planning.
Ray: So the fertility tests, they came back fine for both of us so we can make a baby?
Angie: We want to share what life I have left with a child. And we were wondering if there was something you could do to make me pregnant sooner rather than later…
Ray: …because Angie doesn’t have a lot of time
Dr. Bennett: I just want to make sure that you understand…
Ray: I understand. Angie will die, sooner than we want. Angie will, uh, but that’s the future and I don’t care what happens tomorrow or in a few years. We have this now. We have us now.
Dr. Bennett: There is still the risk that the child will have the gene.
Angie: We know. We are willing to take that chance.
Ray: If everyone who’s had the gene were never born, I would have never met Angie.
Dr. Bennett: I really…
Dr. Montgomery: Naomi. They want us to help them make a baby.
Angie: A person gets to have their whole life
Dr. Montgomery: A person gets to have her whole life.
Unfortunately, the writers of Private Practice missed an important opportunity to discuss alternative family planning options with Angie and Ray. While Dr. Bennett rightfully attempts to explain the impacts of this type of decision, Dr. Montgomery allows emotion to cloud ability to present options to the couple before allowing them and them alone to make the decision.
Angie and Ray have every right to pursue a family. However, there are many options that allow them to have a child in a manner that can eliminate risk of inheriting the disease if they do choose so. For example, pre-implementation genetic diagnosis is a process that tests multiple embryos for the HD gene before implanting the HD-negative embryos. This process is, however, expensive for some families and can conflict with religious beliefs. Regardless, it is the responsibility of the physician to provide a couple with the variety of available options that would allow the couple to have a child without passing on the gene.
For more information on family planning, click here.
Dr. Montgomery: What would you do right now if you were Angie?
Dr. Bennett: You mean if I knew?
Dr. Montgomery: If you knew.
Dr. Turner : Pretty much what I’m doing right now. (The characters are relaxing and drinking together after work.)
Dr, Bennett: Check you out.
Dr. Turner: No this is margarita #2
Dr. Bennett: I’d be on a plane to somewhere spectacular with Maya.
Dr. Turner: What about you?
Dr. Montgomery: I…I don’t know.
Dr. Turner: I’m going for more serenity.
Overall, this episode of Private Practice is fraught with misleading claims about life with Huntington’s disease. The episode is accurate in saying every individual with a parent has a 50% chance of inheriting the mutant gene. Unfortunately, the physicians in this episode do not properly handle the genetic testing process nor the emotions and ramifications of such a process. Furthermore, the physicians should not allow their own emotions to influence the decision making for family planning, especially without presentation of alternative options for childbearing that will eliminate the risk of inheritance for that child.
For further reading:
Oster, Emily, Ira Shoulson, and E. Dorsey. Optimal expectations and limited medical testing: evidence from Huntington disease. No. w17629. National Bureau of Economic Research, 2011.
Episode: Second Sight
A young psychic named Agnes is seen flipping tarot cards as her hand trembles. Her co-worker, another psychic, notices that Agnes is in a strange mood. When she inquires about it, Agnes doesn’t divulge any information. When the co-worker leaves, Agnes flips over a card that reveals that her fate is death. The scene passes and it is revealed that Agnes has disappeared. The investigative team is called in. We will use this summary to analyze the ethical dilemmas and various representations, accurate and inaccurate, of Huntington’s disease.
During the interviews, one of the neighbors recalls seeing her fall down the stairs. He said he called a medic to assist her. She repeatedly told him and the hospital doctor how clumsy she is. When the doctor noticed her arm shaking, he tried to investigate, but she refused. Both the neighbor and the doctor believed someone was abusing her. Agnes left in a hurry from the hospital to avoid the doctor’s questioning.
The doctor ordered a neurology exam, but Agnes never showed up. The neurologist reviewed her CT scan and noted enlarged caudate nuclei. The doctor believes she has Huntington’s. The investigator interviewing the doctor doesn’t understand. The doctor clarifies by saying that Huntington’s is a “hereditary wasting disease, destroys your ability to think and move.” The investigator asks if it is fatal and the doctor replies with “always.”
Later, when her co-psychic was informed of the illness, she understands it as the “dark cloud around her.” The investigator states that she has to consider suicide as a reason for her disappearance since she has a terminal illness. The physic believes Agnes did not commit suicide as suicidal thoughts create a “strong energy” that the psychic would have noticed.
The psychic asks if it is a possibility that Agnes didn’t know she had it, especially since she missed the doctor’s appointment. However, the investigator mentions the fact that Huntington’s is hereditary and that Agnes may have recognized it in herself based upon observations of another symptomatic individual.
“Her grandmother,” the psychic realizes. She explains that Agnes told her about a vision she had after falling down the stairs. Agnes noted that there was a white bird sitting on a wagon wheel and she knew that bird was her grandmother. Agnes adored her grandmother and witnessed the bird struggling to get away because her wing was broken. The bird was trapped and alone. Agnes knew there was nothing she could do to help.
The psychic explains to the investigator that a white bird means sorrow.
Later on, the investigators identify that Agnes’ father staged her abduction. The investigator tells him that Agnes has Huntington’s. The father was unaware. He agrees to bring his daughter to them so the investigators can ensure her safety.
The investigator tells Agnes that her father knows about the diagnosis. Stunned and angry, Agnes asks him if he has ever watched anyone die of Huntington’s disease.
Agnes: Their arms and legs, they jerk around like they’re trapped and trying to get away. No talking, no laughing and it takes a really long time. When I fell down the stairs I knew it; I couldn’t do this on my own. My family will stay with me. Who else would do that?
Investigator: No one.
The investigators allow her to leave with her family and drops all charges against her father.
This episode of Without a Trace follows a young woman’s disappearance shortly after realizing she had inherited the mutant Huntingtin gene. While the show does an effective job of explaining the disease verbally without ever showing a symptomatic person, it does bring up various ethical dilemmas.
Agnes’ doctor is concerned. He believes that someone is injuring her as she has multiple hairline fractures and bruises. However, Agnes refuses to share the true reason for her many injuries. At this point, the doctor has noticed a tremor in her hand and orders a neurological exam, to which she never shows up. Without her permission, the neurologist examines her scans to discover the true reason for all her mishap: Huntington’s disease. Usually, consent is required in the testing of Huntington’s disease, but due to the unusual circumstances of the criminal investigation, this action might be considered justifiable.
Another ethical issue arises when the investigator tries to convince Agnes’ father to bring Agnes to them. In order to convince him, the investigator reveals that his daughter has Huntington’s disease. This action is not fair to Agnes. HD is a devastating family disease and individuals diagnosed with the illness should have an opportunity to share their gene status with their family in a safe and secure environment. However, in this criminal investigation, Agnes is stripped of that ability and is horrified to realize what the investigator has done.
Similar to most people, the investigator had never heard of Huntington’s disease until this specific investigation. He is inclined to arrest Agnes’ father and family members complicit in the staged abduction. After Agnes explains that her family members are the only ones who will care for her, he decides to drop charges and let Agnes leave with her family. Despite the family’s criminal history, the investigator decides that it would be morally wrong to take away Agnes’ family.
Finally, the co-psychic revealed that Agnes’ grandmother had the disease. It is clear from the episode that Agnes’ father does not have the disease. Huntington’s disease does not skip generations, so it is safe to assume that Agnes’ mother had the disease as well.
Without a Trace maintains accuracy while staying true to its dramatic nature. Ethical questions arise throughout the episode. Should a doctor run a neurology exam without a patient’s permission? Did the investigator have the right to share Agnes’ diagnosis with her father in order to ensure her safety? Was it right to drop the criminal charges against the family so they could care for Agnes? The answers to these questions are hard to come by, but the discussion around these issues is what is continually important.
Revenge is a television drama that follows an upper class family in the Hamptons (N.Y.) as the family attempts to solve personal issues affecting one another. Over the course of several episodes, Huntington’s disease is used as a revenge tactic to dismantle seats of power between various stakeholders.
Unfortunately, Huntington’s disease is not accurately represented in these television drama, particularly concerning details of age of onset or inheritance.
During an unveiling of his portrait at a party, Governor Grayson feels unwell when he delivers his speech. In a matter of hours, his physician claims that after running a full scan on Governor Grayson, he discovered a CAG repeat of 48.
Doctor: I’m afraid you have Huntington’s disease, Governor.
Charlotte: What is that?
Doctor: It’s a neurological disease where your body slowly starts to lose motor skills and mental acuity. It’s progressing.”
Governor: …and it’s fatal.
Governor: You need to get tested, son. It’s genetic.
Emily: How rapid is the onset?
Doctor: Depends on the patient. You have a high stress job, Governor.
Governor: Nonsense. My grandfather worked until retirement with this disease.
Doctor: You need to consider your options.
Victoria: Say nothing, Conrad, until we know what to do, not even to your staff. Daniel, brief the press.
Daniel tells the press that the Governor suffered from severe dehydration. Victoria walks into the hospital on her phone.
Margaux: I do hope your father will be okay.
Daniel: My father’s nothing if not a survivor.
Margaux: I can see you’re worried. A colleague in Paris has Huntington’s and he’s doing well (Daniel looks up surprised and the press behind him suddenly goes into a frenzy) so I know Conrad can fight this.
Daniel: How, how do you know that my dad has…?
Margaux: Uh, well I received a newsletter as I walked up quoting a source close to the family, which I assumed was you.
Daniel: Excuse me. (walks away hurriedly as press tries to clamor towards him)
Victoria: Patrick’s left me, Conrad’s dying, Daniel may have it. It was almost good for a while and now it’s being torn away and I just have to sit here and take it.
Emily: Sometimes forces beyond our control can change everything. We’ll get through this…together.
(Daniel walks up)
Daniel: Dad’s diagnosis is out there.
Daniel: Apparently someone close to the family went to the press.
Emily: I hate to say it, but with Conrad’s condition being public knowledge…
Victoria: He has to step down.
Daniel: I’m going to go talk to him. (Walks away)
Emily: Who knew besides us?
Victoria: Only Dr. Valdez, but I can’t believe he would destroy his career over this.
Emily: Unless he seems a little too candid with someone he’s interested in. Since Ashley wants money, I’m sure she netted a handsome heyday by selling her story to the press.
In this episode, the characters reveal that the family has a history of Huntington’s disease. However, under the guise of a revenge plot, the doctor was persuaded by an unknown source to tell the family that in a few short hours, he has determined the CAG count of Governor Grayson. Even if the doctor had facilities on site to test samples of Governor Grayson’s DNA, the doctor did not follow the ethical guidelines of genetic testing, which should include a psychology exam, neurology exam and a genetic counseling session. Additionally, it does not appear that the doctor even received signed consent from Governor Grayson, a prerequisite to testing for the disease.
Furthermore, it is clear that Governor Grayson has never discussed his father’s diagnosis of Huntington’s disease with the family. In many HD families, the disease is stigmatized and family members may hide diagnoses of others from their children or spouses. It appears that Governor Grayson has never had any interest in testing for Huntington’s disease, nor has he discussed the possibility of inheritance with his son, Daniel.
For more information on genetic testing, visit our website here.
Episode 2: Sin
In this second episode featuring Huntington’s disease, Daniel, Governor Grayson’s son, has decided to undergo testing for Huntington’s disease and is waiting for his results.
Daniel: I shouldn’t have judged this magazine by its cover. It turns out they have significant political and cultural pieces too.
Emily: Why the sudden interest?
Daniel: Instead of going crazy waiting around for my Huntington’s test results, I’m grabbing the torro by the horns and having dinner with Margaux at The Muse tonight. I want to help her run Voulez.
Emily: You really think you can do this?
Daniel: Well, I’ve always dreamt of having a job where I could be more creative. Just have to bone up. I’m piping on Scoop next, less of course, my fashion-conscious fiancée wasn’t by my side.
During the waiting period for his test results, Daniel is finding healthy methods of coping. Many genetic counselors will recommend those testing to create a plan for the waiting period in between the blood draw and the results appointment. Many will decide to take on a personal project or go on a vacation during this 3-6 week waiting period.
There is a discrepancy in that Daniel must wait several weeks for his genetic testing results whereas his father received his in one day. This waiting period’s difference highlights the lack of consistent medically accurate information on this television drama.
Charlotte: That’s it! Three days of moping in the dark is the limit.
Governor: I am not moping. I am avoiding the telephoto lenses trying to document how they think the mighty have fallen when I most certainly have not.
Charlotte: Booze in the morning looks a lot like denial, Dad.
Governor: So does moving out at your father’s expense.
Charlotte: I might have to move in just to keep the drink out of your hand. I’m getting you through this whether you like it or not.
Governor: You know, I may have used up all my good luck on you and it was worth it.
Substance abuse is a serious issue for Huntington’s disease families. Occasionally, individuals who are recently diagnosed with the disease may experiment with alcohol, drugs or sexual activities. While this is not the norm, it is important to talk to your healthcare provider if you believe an individual affected by Huntington’s disease is engaging in behavior that is risky to one’s health.
For further information on addressing issues of substance abuse with a Huntington’s disease patient, please reach out to the Huntington’s Disease Society of America here.
In this episode, it is revealed to the viewer that Governor Grayson had his driving license revoked. However, it appears that there was no legitimate reason for this action as the doctors have never conducted a neurological exam and the Governor shows no signs of choreo or dance-like movements.
In this episode, we learn that Father Paul and Governor Grayson has been in a car crash. Governor Grayson was behind the wheel despite his revoked driving license.
Victoria: You better hope he survives because the doctors ordered you not to drive with Huntington’s.
Emily: Father Paul’s dead.
Governor: I knew it was a bad choice. He’s very persuasive. Look, I bought that Ferrari in ’86; it was a gift to myself after getting the Forbes 100. Anyway, Paul and I did a test drive together and he really showed me what that car could do.
Victoria: Are you rehearsing the sob story you’re going to tell at your manslaughter trial?
Governor: No, my dear, I merely want you to understand how Father Paul came to be behind the wheel at the time of the accident.
Governor: He wanted to relive the memory. Breaks my heart that I let him.
Victoria: I will not be complicit in your crazily obvious lie. And good luck getting the authorities to swallow this tripe.
Daniel: Hey Em, Em. You were first on the scene. What did you see?
Emily: The car was on fire. Father Paul’s body was thrown about 15 feet in front of it.
Governor: And where was I?
Emily: You came up from behind me.
Governor: I was nowhere near the driver’s side of the vehicle, correct?
Emily: Yes, nowhere near.
Governor: You are my guardian angel, Emily. The lord knows where I’d be without you.
Later on, Emily reveals that she has lied about the driving status of her father.
Emily: Conrad [the Governor] caused the accident. I don’t think he ever intended to confess [to causing the accident] and he made damn sure that Father Paul didn’t either.
Nolan: Yeah, I don’t know Em. Murder by auto accident is kind of psychotic. Why would he risk his own life?
Aidan: Well, he’s not afraid to die, that’s a side effect of convincing someone they have a terminal disease.
Nolan: Can we just talk about the elephant in the mansion? Maybe the crash was due to a fake Huntington’s episode?
Emily: I lowered his dosage yesterday so he’d be healthy enough to turn himself in.
At this point in the series, Emily reveals that she is behind the fake Huntington’s disease diagnosis. She is attempting to subvert the Governor’s power by not only leading to the fake diagnosis, but by also causing him to have a car accident that would lead to imprisonment. She lowers his medication dosage so that his side effects weren’t so severe and he’d be forced to turn himself in to the police.
Emily’s plan is evidenced by earlier dialogue between her and an accomplice:
“Give [Governor Grayson] these (hands a bottle of prescription pills to Aidan). Maybe he’ll confess if he thinks he’s at death’s door.”
Governor: I got a call from the hospital today asking me to come in for an MRI, which confirmed a shocking discovery. I’ve been misdiagnosed. I do not have nor ever suffered from Huntington’s disease.
Emily: How did they explain the symptoms?
Governor: Seems they were brought on from the stress and the Huntington’s disease medications themself. I realize now what Father Paul meant when he said he was brought back into my life by divine intervention. He was God’s vessel to show me that I’m meant to live a long and meaningful existence here on Earth. Father Paul is no doubt in Heaven and he has earned his wings.
Victoria: Or maybe he’s laughing at you because you had to step down as governor for naught. I know I certainly am.
Governor: Well being governor only distracted me from my true destiny: leading this family. And so the first step is reclaiming my rightful position as master of this house.
Emily speaking to Daniel: You must be happy. Your father’s misdiagnosis puts you in the clear now too.
In the end, Governor Grayson reveals that he has been misdiagnosed with Huntington’s disease as the MRI showed no degeneration in the brain. It is accurate to say that Daniel will never develop HD, as it is not possible for HD to skip a generation. Since Daniel’s father, Conrad the Governor does not have the disease, Daniel cannot inherit it. Unfortunately, however, Revenge does little else to accurately represent disease inheritance and symptoms throughout the series, using Huntington’s disease as a dramatic method of exacting revenge on a family member.
For more information on inheritance, visit our website here.
The Shortest Way Home is a novel that follows 44-year-old Sean as he returns to the United States after 20 years of serving as a nurse in war-torn and underdeveloped regions within South America and Africa. Upon his return, he discovers the extent to which his family has become dysfunctional. Sean’s family has never been normal, though. When he was young, Sean’s mother passed away from head trauma related to her Huntington’s disease, causing a chain reaction of disastrous events in his childhood. Now, back in Belham, Massachusetts, Sean finds his aging Aunt Vivian trying to take care of his orphaned nephew Kevin while his sister Deirdre itches to leave Belham to pursue her acting career in New York City.
Sean has no intention of staying permanently in Belham when he arrives. He desires to recuperate from his stressful job and then make his way down to Haiti to help with the lingering health repercussions caused by the 2010 earthquake. However, a series of events makes Sean realize that he needs to stay in Massachusetts.
When Sean was a child, his mother was diagnosed with Huntington’s disease at Tufts University’s Medical Center. Her sister, Aunt Vivian, never showed signs of the disease. The three children, Sean, Deirdre, and Hugh, moved in with Aunt Vivian along with their father when 15-year-old Sean’s mother died. However, unable to handle his loss and care for his three children, Sean’s father disappeared for over 30 years, leaving the children under the care of the harsh, unsympathetic Aunt Vivian.
While working at a medical clinic in Kenya, Sean discussed his mother’s disease with a doctor on staff. She has a difficult time understanding why Sean, who is 44 years old, has never been tested for the disease. None of the three children made the decision to test and Sean has difficulties explaining why he didn’t want to know. He told her to “Put yourself in my shoes. If I were to tell you that I could say for certain when and how’d you die, and that you could linger for years, becoming an enormous burden to your family…would you still jump at the chance?” (p. 16)
Sean takes every measure he can to prevent his DNA from passing on to the next generation, in case he does exhibit signs of the disease. He has a vasectomy and is still careful about using protection during intercourse.
Sean has never escaped the at-risk cloud hovering over his head. He never travelled for leisure, but he does have a plan in place if he ever becomes symptomatic. He intends to travel to Tierra del Fuego and commit suicide there as an exit route from the disease
As Sean settles in to his old hometown, he continues to run into his high school friends and acquaintances. Some of them are surprised to see him in such good shape, as they had assumed he would have the disease by now. One of his friends, Rebecca, becomes irritated by his presence at first because he told her in high school that he would be dead and gone by the time he reached this age. Other friends notice certain ailments of his, such as extreme back pain, and often attribute it to the beginning signs of the disease. However, Sean tells them that he believes he got lucky and did not inherit the mutant gene.
At this point, his Aunt Vivian, who is also at-risk for Huntington’s disease and never tested, is in her early 80’s. She is experiencing signs of dementia. His friends are concerned that it is late-onset HD, but Sean and his sister believe it is a form of Alzheimer’s. Aunt Vivian has no intention of visiting a doctor to determine the cause of her bouts of forgetfulness.
Kevin, Sean’s nephew, is at-risk for the disease as well. His father, Sean’s brother Hugh, passed away a few years prior from pneumonia and had never tested nor showed signs of the disease. However, Kevin deals with a sensitivity disorder and Sean doesn’t know the right time to discuss Kevin’s at-risk status with him. To further complicate matters, Kevin’s mother ran away before Hugh’s death, putting him under the care of Aunt Vivian. Sean realizes that he will probably be Kevin’s next caregiver.
Sean also decides to stay in order to commit to his new relationship with high school friend Rebecca. One of their arguments centers on the fact that Sean might need to become Kevin’s legal guardian, but has not found out if he will develop the disease. Sean accuses Rebecca of urging him to test because it is in her best interest for the relationship. Rebecca disagrees that this is not her intention. A diagnosis of the disease will devastate her as well and she is very scared and uncertain of his situation.
In the end, Sean decides to stay in Belham and mentions to Rebecca that he has started the process of genetic testing. He is ready to know.
The Shortest Way Home is a great read from Juliette Fay. Fay’s inspiration for the book came from a friend whose mother had Huntington’s disease. The friend had decided never to get tested and, in middle age, had not yet shown signs of the disease. Fay thought about what it must be like to be HD-negative yet grow up assuming you’ll develop the symptoms.
Fay does an excellent job of describing the hardships that Huntington’s disease families face, without misleading readers regarding scientific facts. The characters are very relatable, especially as they struggle to cope with Sean’s at-risk status as a middle-aged man. As the reader watches Sean struggle with his personal desires and the needs of his family, the storyline provides an excellent glimpse into the sacrifices, joys, and pains of living in a family affected by this disease.
This book is appropriate for young adults and older.
This review contains information regarding genetic testing and coercion as it relates to Huntington’s disease.
Breaking Bad is a popular U.S. crime drama television series that aired from 2008 to 2013. The main character, Walter White Jr., discovers that he has terminal lung cancer and decides to sell methamphetamine in order to secure the financial future of his family when he passes.
In an episode titled Salud, Walter’s son is celebrating his 16th birthday. Unfortunately, Walter is unable to celebrate with his son due to various drug-related medical problems. The next morning, he sits his son down to tell him about a childhood memory that has always haunted him.
Walter: My father died when I was six. You knew that right?
Walter: He had Huntington’s disease; it destroys portions of the brain, affects muscle control, leads to dementia, it’s just a nasty disease. It’s genetic. Terrified my mother that I might have it so they ran tests on me when I was a kid, but I came up clean.
Interruption for Side Comment
While it is important that Breaking Bad is introducing millions of viewers to Huntington’s disease, there is always a risk of misinformation or stereotyping in entertainment media. In this episode, the most glaring mistake is the comment Walter makes regarding his genetic testing for the disease.
Walter stated that his mother was so scared of his at-risk status that she had tests run on him when he was six years old. Although genetic testing is required to test for Huntington’s disease prior to symptom expression, the historical timeline in Breaking Bad is skewed. Genetic testing was not available until 1993 after Nancy Wexler’s team discovered the location of the gene that causes Huntington’s disease. As Walter is middle-age, it is not possible that he was expressing symptoms of Juvenile Huntington’s Disease as individuals with this disease often don’t live beyond their 20’s.
Continuation of the Dialogue
Walter: My father fell very ill when I was four or five. He spent a lot of time in hospitals. My mother would tell me so many stories about my father. She would talk about him all the time. I knew about his personality, how he treated people, I even knew how he liked his steaks cooked, medium rare, just like you. I knew things about my father. I had a lot of information. It’s because people would tell me these things. They would paint this picture of my father for me. And I always pretended that that was who I saw too, who I remembered. But it was a lie. In truth I only have one real actual memory of my father.
It must have been right before he died. My mother would take me to the hospital to visit him and I remember the smell in there. The chemicals: it was as if they used up every single cleaning product they could find in a 50 mile radius, like they didn’t want you smelling the sick people. Oh, there was this stench of Lysol and bleach, I mean, you could just feel it coating your lungs. Anyway, there lying on the bed, is my father. He’s all twisted up. My mom, she puts me on her lap, sitting on the bed next to him so I could get a good look at him, but really…he just scares me. And he’s looking right at me, but I can’t even be sure that he knows who I am. And your grandmother is talking, trying to be cheerful, you know, as she does. But the only thing I could remember is him breathing. This rattling sound like if you were shaking an empty spray paint can…like there was nothing in him.
Anyway, that is the only real memory that I have of my father. I don’t want you to think of me the way I was last night. I don’t want that to be the memory of me when I am gone.
Forgetting, for a moment, that genetic testing was not feasible when Walter was a child, coercive genetic testing is another topic that was glossed over quickly within the dialogue. In the United States, it is strongly recommended that genetic counselors only test individuals over 18 years old or legal adulthood. There are a variety of reasons why this recommendation is in place. In respect to Breaking Bad, it would prevent parents, such as Walter’s mother, from testing at-risk, non-symptomatic children without their legal consent. Children are thus protected from discrimination from their parents (intentionally or not) as a result of their test outcomes. Additionally, it is the affected individual’s right to decide if he or she wants to know their testing results, which is why parental coercion is highly discouraged.
In this episode, it is clear that Walt has traumatic memories of his father. Unfortunately, for many children in Huntington’s disease families, childhood can be filled with hardship as many parents become symptomatic at this time. While resources for children dealing with the issues associated with living in an HD family were limited to non-existent when Walt was a child, there are many resources today for children including the Huntington’s Disease Society of America (HDSA) National Youth Alliance and the Huntington’s Disease Youth Organisation (HDYO).
While this episode of Breaking Bad does contain major inaccuracies in terms of genetic testing, it does highlight the impact HD can have on children who watch their parents live with the disease.
Courtesy of Amazon.com
Following her great success with Still Alice and Alzheimer’s disease, neuroscientist and author Lisa Genova attempts to accurately portray the disease experience of a Huntington’s disease (HD) family in her latest novel, Inside the O’Briens.
Unlike most media outlets, Genova goes to great lengths to understand the disease, both medically and socially, through interviews with HD researchers, clinicians and family members. Whether it’s describing the deterioration of the disease or explaining job discrimination, Genova succeeds in portraying the real HD disease experience.
Inside the O’Briens follows the story of Joe O’Brien, a middle age Boston police officer. He is married to Rosie O’Brien, with whom he has four children: Patrick, JJ, Meghan and Katie, all of whom still reside in the same triple-decker house in Charlestown, Massachusetts. Joe lives a content life and has very little problems within his family, despite a stressful job as an active duty police officer.
However, Joe and his family begin to notice changes in his behavior and movements. Joe is quick to anger and begins to loose his coordination. His wife, Rosie, convinces Joe to seek medical help. Sadly, he is diagnosed with Huntington’s disease. This news comes to a shock for Joe, whose family never acknowledged a history of the disease, until he re-considered the symptoms of his mother’s “alcoholism” many decades ago.
The story outlines the challenges Joe’s family must face as they not only navigate the disease progression of their father, but the fact that all four siblings have a 50% chance of inheriting the disease. The book is a challenging read, accurately portraying the unique problems HD families all over the world face.
Genetic testing, in addition to reproductive strategies, is one of the most controversial aspects of the HD experience. Despite the presence of a gene test, estimates show only 5-10% of all at-risk individuals choose to undergo predictive genetic testing (Oster et al., 2011 ). These statistics sometimes frustrate clinicians, leading to rash or coerced genetic testing decisions between the patient and doctor.
Rosie, Joe’s wife, accompanies Joe on a consultation with neurologist Dr. Hagler. Rosie notes the various movement symptoms Joe does not notice due to a lack of proprioception, or the ability to detect one’s body position. Dr. Hagler requests information regarding Joe’s family history and discovers that his mother was hospitalized for “alcoholism.” She also has Joe perform several neurological tests without explaining the reasoning behind these tests. Despite Joe’s insistence that he is just having a knee problem, Dr. Hagler suddenly diagnoses Joe with Huntington’s disease, but admits they should get an MRI and genetic testing to confirm her diagnosis (76-108).
Without any consent or transparency, Dr. Hagler diagnoses Joe with a devastating neurological disease with no counseling or explanation, causing great psychological stress to the family. Joe is furious that a medical professional could be so irresponsible in her prognosis:
“Huntington’s. It’s pure malarkey, and Joe won’t give it any stock. Police officers deal in facts, not speculation, and the fact is, this doctor threw out this big, scary medical word without having done any real medical tests, without knowing a damn thing. It was an offhand, irresponsible remark. It’s practically malpractice, to put a word like that out there, into their innocent heads, with no facts to back it up. It’s complete bullshit is what it is” (84).
Genova does an excellent job of highlighting the ways in which professionals can negatively impact a diagnosis experience. For families unaware of a history of Huntington’s disease, an abrupt clinical diagnosis with little explanation or consent can be harmful.
Furthermore, a diagnosis of Huntington’s disease can be devastating because of the implications it can have for younger generations. In the case of Joe’s family, his diagnosis means that his four children also must acknowledge they each have a 50% chance of inheriting the disease.
Genova highlights the tensions this statistic can cause among family members, especially when it comes to making the decision to test. In one section of the book, Genova creates a dialogue between the four siblings regarding their decision to test. The brothers, JJ and Patrick, are frustrated by the fact that they must undergo a long genetic testing process to find out if they have inherited the disease. Patrick refuses to get tested as he does not want to do any of the counseling.
JJ decides to test as his wife, Colleen, is pregnant with their first child. Meghan, one of the sisters, asks JJ if he and Colleen would have an abortion if he tested positive for the disease and so did the baby. [For more information on fetal testing or family planning in general, click here.] The stress is palpable. JJ doesn’t have an answer to his sister’s question.
The siblings discuss the fear that they’ve already started exhibiting symptoms. Meg, a ballet dancer, believes she’s messing up more in her routines. It is not unusual for those at risk to self-identify or diagnose based off behaviors that may or may not be related to Huntington’s disease. Her siblings try to reassure her that it is nothing.
At the end of the conversation, JJ and Meg decide to pursue testing, Patrick will not, and the youngest, Kate, is undecided.
Kate decides to pursue the genetic counseling process. She meets with Eric Clarkson, a genetic counselor. She does so after an upsetting neurological exam by Dr. Hagler, the same woman that analyzed Kate’s father’s movements. At the end of the exam, Dr. Hagler tells Kate that everything looks normal, leaving Kate with mixed emotions. She’s spent the last few weeks studying herself, trying to identify signs of the disease. Now she can finally stop. In Kate’s words: “That neuro exam was like surviving fifteen rounds in a boxing ring. She’s been declared the winner, but she still got knocked around” (162).
Eric takes over for Dr. Hagler to discuss genetic testing with Kate, asking her about the uncertainty surrounding her decision to test. Katie admits to Eric that she believes she has the gene because she looks like her dad’s mother. Eric reassures her that physical resemblance has nothing to do with HD inheritance. He uses this misconception as an opportunity to go over basic genetics, explaining DNA, chromosomes, and genes.
Additionally, Eric asks Kate to articulate what life would be like if she tested negative (“biggest relief ever”) and if she tested positive, along with her siblings testing positive. Kate says she “wouldn’t jump off the Tobin [bridge]” (168). Kate is getting increasingly uncomfortable with the intensity of the conversation. She grows increasingly impatient and tries to ascertain the reason for this “interrogation.”
Eric explains to her that he will not deny her the test. However, he says, “we want you to understand what you’re getting into and have the tools to deal with it. We feel responsibility for how you’re going to react” (171). He says that Kate can come back in two weeks to get the test or continue to visit with each other until she feels ready. He emphasizes that he will deliver her results to her in-person, and not over the telephone, a common best practice of genetic testing.
Overall, Eric Clarkson does an excellent job explaining the disease to Kate, as well as the emotional implications of genetic testing.
Family Members with HD
Many children from Huntington’s disease families must reconcile the fact that they have watched a parent suffer from a long, debilitating illness. This experience can cause trauma and psychological stress, especially as many of these children must also face their own personal realities of the disease.
Joe is no exception:
“But while he’s been doing his best to avoid falling down the dark, muddy rabbit hole of Huntington’s disease, he has been thinking a lot about his mother. Joe stops turning the screwdriver and runs his index finger over the scar by the outside corner of his left eye…His mother threw a potato masher across the room…Joe likes to believe that the scar by his eye is the only thing he got from his mother, a single souvenir of her madness” (85).
The disease can often strip individuals of their identities as well:
“The woman in that bed would never be able to read or sing or smile at him again. The woman in that bed was nobody’s mother” (87).
Grappling with Huntington’s disease can be a taxing feat considering the fact that multiple generations often have to deal with its consequences simultaneously. This burden is particularly evident when Joe must tell his children that they all have a 50% chance of inheriting the disease, in addition to the risk it poses to any children they plan on having. As described on page 122, the four siblings have great difficulty comprehending the magnitude of the situation. For JJ and his wife Colleen, it is far too real, as they reveal that Colleen is pregnant.
As is revealed later in the text, JJ tests positive for the faulty gene, meaning his child is now also at-risk for the disease. He and Colleen decide to keep the baby, despite the risk. As stated on page 202, “Joe prays everyday that the baby is healthy.” Joe also acknowledges that once the baby is born, the child cannot be tested until he or she makes the decision to do so, which at minimum is 18 years away, meaning he may never know whether or not it passes on to the next generation.
Unemployment is perhaps one of the most difficult transitions for many HD patients living in their working prime. Joe, a police officer, must face this transition earlier than others due to the high intensity and dangers involved in his job. Before losing his position on the force, Joe is accused of directing traffic while drunk, a common misconception of individuals with HD. He had not yet revealed his diagnosis to anyone outside his closest circles. However, after several complaints and rumors, Joe must finally disclose his disease status to his boss. Joe must grapple with the fact that, at best, he may keep his job at a desk. Otherwise, his future on the force does not look promising (234).
Genova uses this crisis in Joe’s life to explain the Genetic Information Non-Discrimination Act (GINA). This piece of legislation “makes it illegal for employers to terminate an employee based on genetic information” (247). However, an employer retains the right to fire somebody if that individual poses a safety threat or cannot do his or her job effectively. This caveat means Joe cannot be protected by GINA, but perhaps this information can help other readers.
Suicidal ideation is one of the most pressing issues in the Huntington’s disease community. It is a difficult topic to discuss, but a matter that must be addressed in order to make progress and educate communities touched by the disease.
When Joe is accused of drunk policing, his co-worker mentions that “this time of year is brutal” (244). The community has seen three suicides in the month of January. Joe imagines the various ways these individuals may have killed themselves. The last one he imagines: “a cop eats his gun” (244). He then thinks this “last one is how he’d do it, if suicide were his plan.”
Joe spends several scenes of the book contemplating his death. Chapter 29 begins with the sentence, “The gun is still his plan.” Rosie dissuaded Joe from taking his own life before, but his ideation is still frequent. Joe finds himself obsessively checking his draw for the gun, just in case he decides he needs to use it. Katie, his youngest, is the one that has the most effective impact on Joe leaving his “perfect plan behind.”
The passage reads as follows:
“’We don’t know anyone else with HD. You’re the only example we have. We are going to learn how to live and die with HD from you, Dad’…
It’s the perfect plan. He’ll be teaching them the human thing to do, the victorious way out. The gun. He should check the gun” (273).
Through his conversation with Kate, Joe realizes the importance of his presence to his family. He decides that, personally, it would be better for him to not choose suicide.
While suicide and job loss often grab the headlines for HD communities, sometimes the everyday challenges are the hardest.
Joe describes his everyday encounter with strangers. Due to a lack of proprioception, or the ability to sense one’s body position, Joe can only perceive his movements “through the mirror of the guarded, unforgiving stares of strangers” (212). Otherwise, he cannot tell that his body is moving. Joe describes the feeling of having strangers stare at him, trying to pin him into categories like drunk, mentally impaired, harmless, violent, deranged. As Joe states, he is “horrifying, unacceptable, and then invisible” to these strangers.
Furthermore, Joe explains his symptoms by calling himself his own “stuntman.” With the combination of proprioception and anosognosia, he is unaware of the placement of his body. Not only does this cause him to move unexpectedly, but often with more force than intended. He also finds himself hard pressed to control extreme mood swings, often towards anger, which often makes him feel guilty as it can be extremely traumatizing for his family.
Joe also describes his challenges with the limited number of drugs on the market. While Tetrabenazine helps control his chorea, Joe must take less of it as it increases his suicidal ideation. The constant management of drugs to control for various symptoms of HD can be exhausting.
One of the greatest mechanisms for coping with the daily challenges with the disease is a support system. When Joe attends a baseball game with his friends, he must face the unforgiving glares of strangers bewildered by his movements. However, his friends and family are there to support him, melting away the attempts of others to judge him. As the Red Sox win the game, Joe “takes a moment, wanting to remember this, the joy of the win, the beers and pizza, the electric energy of the crowd, a night at Fenway with his best friends and his two sons. His seat ain’t empty yet. And tonight, he enjoyed every wicked awesome second of it” (330).
Lisa Genova provides readers with one of the most comprehensive looks into the lives of those affected by Huntington’s disease. She touches on issues like Juvenile Huntington’s disease, insurance, genetic testing, drugs, and more, all the while providing and engaging story for readers from all walks of life. Genova does an excellent job proving she did her research. Whether it was speaking with HD families, connecting with the Huntington’s Disease Society of America or grilling HD researchers, she makes every effort to accurately portray one potential disease experience at both the family and the individual level.
For Future Reading
Oster, Emily, Ira Shoulson, and E. Dorsey. Optimal expectations and limited medical testing: evidence from Huntington disease. No. w17629. National Bureau of Economic Research, 2011.
In the season 8 finale of Scrubs, a popular medical TV show, one of the doctors diagnoses a 70-year-old woman with Huntington’s disease. While manifestation of the disease is more common during middle age, presenting symptoms later on is possible. JD, the physician on the show, does his best to explain the disease in a manageable, understandable way without neglecting to mention that the patient’s son, Mr. Stonewater, is also at risk for this genetic disease. JD offers Mr. Stonewater the genetic test that would reveal whether or not he had inherited the same faulty gene as his mother. Mr. Stonewater asks for some time to consider his options.
JD goes through the rest of his day fazed, as he knows how devastating the disease is and how difficult a decision it is whether or not to pursue genetic testing. When Mr. Stonewater informs JD that he does not want to take the test, JD respects his wishes.
The son, Mr. Stonewater, had told JD that his mom wasn’t acting like herself. When JD tries to examine her she lashes out and accuses him of trying to attack her. JD comes back later with a diagnosis.
Stonewater: She has Huntington’s disease?
JD: It’s a degenerative brain disease, causes you to lose control of your movement and mental ability. It can also change your personality like with your mom.
Stonewater: So what do we do?
JD: Unfortunately, there’s no cure. Eventually it will take her.
Stonewater: Oh geez.
JD’s internal monologue: Sometimes, you just have to barrel through no matter how much it sucks.
JD: And Mr. Stonewater, Huntington’s is caused by a faulty gene. And since your mother has it, you have a 50/50 chance of having it too. We can test you for it if you want.
Stonewater: If we find out that I have it early on, are there any treatment options?
JD: Nothing substantial yet. I can only tell you if you have it, can’t even tell you when the disease would hit you if you do have it. Could be in your 70’s like your mom or…
Stonewater: Could be sooner.
JD: Could be sooner. I’m so sorry.
Stonewater: Can I have a few minutes?
JD internal monologue: I’m so bummed about Mrs. Stonewater that I totally spaced and forgot what was wrong with Benjamin here. Is he the one with broken ribs? Nope. Maybe he’s the guy with sinus polyps. I don’t think there’s any polyps but he definitely has some oily skin issues. I should turn him on to that awesome apricot scrub I stole from Elliott. Come on, focus!
In an argument with Elliott, a fellow hospital employee and JD’s girlfriend
JD: NO, Elliott. I’m upset because Huntington’s disease sucks, Dr. Cox is a jerk and I’m such a crappy doctor I just got dumped by a patient. And nobody but you and Turk care that I am leaving.
Later, JD encounters the patient in the hallway as he explores the challenges of offering the genetic test for Mr. Stonewater.
JD’s internal monologue: Sometimes it’s deciding that you don’t want to know if you have a fatal disease.
Stonewater: Dr. Dorian, I decided not to take that test.
(JD walks away from the patient in a haze of his own internal monologue)
In this case, it is unusual for a doctor to recommend the genetic test without explaining the formalities that accompany it—genetic counseling, psychiatric and neurological evaluations as well as a blood draw. These aspects of genetic testing, along with the risks—discrimination, insurance spikes, depression, etc.—were probably not included in this episode due to the nature of the show (entertainment versus documentary). We would like to clarify that doctors should always explain the full process of genetic testing before offering it, especially if someone has only been recently introduced to the disease. Other than the exemption of these facts, JD does not misinform Mr. Stonewater about his genetic risk or the fate of his mother and explains the facts clearly and succinctly.
However, as you can see from JD’s internal monologue, genetic testing can be a complicated decision even for the medical professionals. Genetic counselors, neurologists, and psychiatrists all work together to determine a patient’s ability to handle an HD genetic testing. They must consider the ramifications of the test and the results potential impact on the health of the patient, which might include risk of suicide or depression. These professionals often face great stress upon the reveal of the results, as they are all too aware of the implications of the test. We can see the type of strain this places on JD as he emphasizes with Mr. Stonewater’s tough predicament.
Within the context of a medical drama TV series, this episode overall accurately portrays the difficulties for the patient, the family, and the physician involved in dealing with the realities involved in dealing with the delivery of an HD diagnosis.
ER is a medical drama television series.
In the Season 9 Episode “Insurrection,” a late-stage Huntington’s disease (HD) patient is rushed into the Emergency Room (ER) of a hospital. The ER is in chaos during this episode, as doctors and nurses walkout to protest unsafe working conditions. Inside the hospital, the absence of staff makes it easy for the desperate mother of the patient to switch off the ventilator that is supporting her son’s breathing. To her, this action is probably one of mercy, as she knows her son’s Huntington’s disease will only continue to progress.
When Dr. Lewis discovers what the mother has done, she decides not to press murder charges in order to protect the mother from prison.
Background: The ER receives a patient with end stage Huntington’s disease. He fell out of bed and potentially broke his hip.
ER doctor: What do we know?
Another doctor: Huntington’s, starts in your early 30’s and 40’s starts with your emotional ability and depression, leads to a progressive loss of motor control and loss of cognitive function.
Later: The patient is having sudden troubles unrelated to his hip. His mother is there. She apologizes to him for the quality of the nursing home and says it was the best she could find. She doesn’t have much money to pay for quality care. The mother keeps pointing out how much her son is suffering and begs the doctors to help him. Later on, he chokes on vomit and they want to put in a tube despite the scars in his pathways from a ventilator a few months ago. The mom asks “That’s it right? When you put that tube in, it’s not coming out, right?”
At one point, tthe patient needs to go to the operating room. The mom asks Dr. Susan Lewis if she knows what it is like to watch someone die for 25 years.
Mother: It’s what I did with his father every day. I loved the man, but I hated what it did to him.
Doctor Susan Lewis: I can refer you to another nursing home. I don’t know what you are paying now.
Mother: He was a singer, didn’t you know? An opera singer, a tenor? When he sang, it was the most beautiful sound in the world. I prayed it would pass him over. When he got to be 29, I thought, my God maybe we got lucky. Then he started having trouble at work. Forget things and when he talked sometimes he was hard to understand. And of course…of course he couldn’t sing anymore. It just takes everything away. Everything.
Next scene: During the walk out in which many of the doctors are protesting unsafe working conditions, the mother turns off her son’s ventilator. Doctor Lewis comes back in and turns on the ventilator to prevent suspicion. She hides the patient’s true cause of death in order to protect the mother.
ER is intended to be a medical drama. In its effort to emotionally influence viewers, ER often neglects to explore the ethical implications of the characters’ actions. In this episode a distraught, desperate mother watches her son suffer as the doctors attempt, not to cure or treat his symptoms, but extend and hopefully improve his quality of life.
The mother has been a caregiver for a long time. She had to care for her husband until he passed away, and her son as well. She expresses the difficulty of watching a loved one lose the ability to do things he or she enjoys like opera singing, in her son’s case. This episode shows the challenges facing caregivers and the emotional burden resulting from decades of caring for those affected by the disease.
This episode highlights end-of-care controversies for HD patients such as death with dignity or assisted death. There are currently only four states that have Death With Dignity Laws–Washington, Vermont, California and Oregon. These laws allow mentally competent, terminally ill adult state residents to hasten death using prescribed euthanasia medication.1 This choice is complicated one for the HD community; Qualifications such as “mentally competent” might be defined in various ways among physicians, patients, and family members as HD does cause cognitive and psychiatric issues.
Suicide or assisted suicide are major issues in the Huntington’s disease community. In fact, suicide is often the leading cause of death among those who have inherited the mutant gene. Because of the gravitas of these actions, it is extremely important that health care providers do all they can to understand the psychological impacts the disease has on the individual as well as family members. In addition to health care providers, caregivers and family members should be well-educated on what to do if their loved one is experiencing suicidal ideation.
Dr. Lewis did not follow proper procedure upon discovering what the mother had done. She altered the cause of death to avoid focusing any suspicion on the mother. Dr. Lewis neglected to follow protocol in order to protect the mother from legal ramifications. While this might be an exception a doctor would make in a TV drama, it is not something that should be expected of any physician. Patients and caregivers should have an open dialogue with primary care doctors to discuss end-of-life options such as “Do not resuscitate” (DNR) or preventing the use of feeding tubes.
The subject matter in this episode of ER is heavy. It highlights the burden on caregivers and why family members might consider options such as assisted suicide. If you are a Huntington’s disease caregiver, you can find resources and support networks by visiting hdsa.org/living-with-huntingtons/family-care/caregivers.html
- “Defend Dignity. Take Action.” Death with Dignity National Center. N.p., n.d. Web. 11 Aug. 2014.
Length: 359 pages
Summary: The Troubled Helix compiles research from across the scientific spectrum to give a thorough account of how human genetics influence people in the modern age.
Ferris Wheel is a fictional story about a girl, Kathryn, whose life is changed when she meets the new neighbors and their son, Carson.
Inhibition of mitochondrial protein import by mutant huntingtin
Research has shown that mitochondrial dysfunction is associated with neuronal loss in Huntington’s disease (HD). However, it is unclear how mutant huntingtin (Htt) may cause such dysfunction. Researchers at University of Pittsburg and Washington University have discovered evidence of a direct relationship between mutant Htt and the mitochondrial protein import machinery1. This study has many implications for HD research including the development of mitochondrial protein import-based therapies.
Mitochondria are specialized subunits within a cell often referred to as the ‘energy powerhouse’ as they are responsible for conversion of nutrients into energy for the cell. Mitochondria can be found in every cell of the human body (with the exception of red blood cells) and they are also responsible for calcium homeostasis and the regulation of apoptosis (programmed cell death) 2.
Unfortunately, mitochondria may not function properly due to the obstruction of important pathways, which can compromise the energy production of the cell. When mitochondria in the brain malfunction, less energy is generated within the neuronal cells, which can lead to cell injury, and eventually cell death. Therefore, neuronal cells need healthy mitochondria to survive. There is evidence that mitochondrial dysfunction may be a critical driver of HD pathophysiology1.
The mitochondrial protein import pathway is crucial for healthy mitochondrial function since proteins are often created in the cytoplasm before traveling through several complexes to make their way to the mitochondria. To stress the importance of this pathway, mitochondria contain approximately 1,500 different proteins, yet 99% of which are encoded by the nuclear genome.
Initially, the scientists observed that mutant Htt protein, unlike normal Htt protein, was present within brain mitochondria of HD patients. They hypothesized the existence of an interaction between mHtt and some mitochondrial proteins. The researchers conducted a series of experiments using mice models and cell lines to determine what that interaction is exactly and if that interaction negatively affects the mitochondria function.
In order to further understand how this deficiency in mitochondrial protein import is occurring, the scientists further investigated the role of Htt protein using an in vitro protein import assay with a radiolabeled precursor matrix protein (pOTC) which allows the measurement of the import activity for many mitochondrial proteins. They performed this assay in normal mitochondria in the presence of either normal (23Q) or mutant (97Q) recombinant Htt fusion proteins (shorter N-terminal Htt fragments that have been tagged to allow for purification and increased expression3) and observed that, if the Htt fragment carries a polyQ expansion, it will inhibit the uptake of preproteins into the mitochondria through direct association with the TIM23 mitochondrial protein import complex1. (The TIM23 complex assists in the movements of certain proteins across the inner mitochondrial membrane into the mitochondrial matrix.) The mutant Htt does, in fact, cause mitochondrial dysfunction by interfering with the mitochondria’s protein import function.
To understand how to prevent such dysfunction, the scientists overexpressed the TIM23 complex of the mitochondria. This resulted in more pre-proteins being able to travel through the membrane and into the mitochondria, and consequently, successfully limited the problematic cell death caused by the mutant Htt. This observation confirms that the purposeful overexpression of the TIM23 complex may actually be a key therapeutic target as cell death could be avoided despite a presence of mutant Htt.
It is important to note that there is a brain-specific reduction in the activity of protein import in neuronal mitochondria, rather than an increased sensitivity to import dysfunction, as previously hypothesized. Because of the energetic demands of synaptic transmission, synaptosomal mitochondria might be more sensitive to changes in protein import.
Finally, since HD is an age-dependent progressive neurodegenerative disease, the researchers decide to investigate how age-related insults like oxidative stress (link to definition) might compound the progression of the disease. For this experiment, mitochondrial protein import activity was observed in the presence of a sub lethal dose of hydrogen peroxide. This dosage did not impact the wild type neurons. However, it did significantly decrease import activity in the 195CAG HD neurons.
These results suggest that mutant Htt inhibits mitochondrial protein import via a direct interaction with the import machinery and have important implications in respect to the development of future HD therapies. Scientists can now apply these findings to target mechanisms that prevent the mutant Htt from blocking mitochondrial protein import in an attempt to prevent or delay neuronal cell death due to mitochondrial dysfunction. Such therapeutic approach could have the potential to slow down the progression of the disease and reduce the need to focus on the more difficult task of neurogenesis and network repair.
For Further Reading
1.Yano, Hiroko, et al. “Inhibition of mitochondrial protein import by mutant huntingtin.” Nature neuroscience (2014).
2.Wiedemann, Nils, Ann E. Frazier, and Nikolaus Pfanner. “The protein import machinery of mitochondria.” Journal of Biological Chemistry 279.15 (2004): 14473-14476.
3. “GST-tagged Proteins – Production and Purification.” GST-tagged Proteins. N.p., n.d. Web. 02 July 2014.
4. . Johri, A. & Beal, M.F. Antioxidants in Huntington’s disease. Biochem. Biophys. Acta 1822, 664–674 (2012).
K. Powers 2014
It is well documented, as reviewed by Labuschagne et al. (2012), that Huntington’s disease (HD) patients often have difficulty recognizing facial cues and understanding emotions of other individuals1, especially regarding the emotion of disgust2. Such emotional deficits can greatly diminish their ability to communicate, which may result in aggravated tension and stress between patients and caregivers.
In order to understand the potential spectrum of emotional recognition deficits in HD and its relationship to certain medications, a recent study conducted as part of a multi-site international project (TRACK-HD) examined emotion recognition in relation to the use of neuroleptic and selective serotonin reuptake inhibitor (SSRI) medications1.
What are neuroleptic and SSRI medications?
Neuroleptic drugs are anti-psychotic medications that affect one’s cognition and behavior. These drugs have the potential to cause apathy, reduced range of emotion, confusion and agitation3. Physicians prescribe HD patients neuroleptics in order to treat chorea and behavioral disturbances such as irritability and anger outbursts, and less often for psychotic symptoms1.
SSRIs are anti-depressant medications, which, on top of being used for depression treatment, may also be used to subdue behavioral issues such as irritability and aggression3.
In clinical trials focusing on diseases other than HD, these medications have been found to reduce emotional capabilities and cause symptoms such as affective indifference, emotional blunting, reduced facial expressiveness, and reduced intensity and frequency of emotional experiences1. The aim of this study was to determine if these observations are applicable to the HD patients.
The researchers identified 344 participants that ranged from premanifest patients (individuals which have already been diagnosed as carriers of the HD mutation, but have yet to start displaying any signs of HD-related symptoms ; n=115), early HD patients (n=113), and controls (n=116). The participants were between 18 and 65 years of age with no history of other neurological illnesses. Using six emotional expressions and a neutral expression, the researchers examined how these three different groups would identify and respond to the emotions demonstrated. Additionally, the researchers focused on the subset of early HD patients who were taking neuroleptic or SSRI medications in order to compare the emotion recognition performance with that of early HD patients who were not taking these medications.
In order to gage emotional recognition, the researchers utilized a computer tablet to show facial stimuli from the Ekman and Friesen face stimulus set5. Each experimental trial included a single face showing one emotional expression (anger, disgust, fear, happiness, sadness, or surprise) or a neutral expression. Subsequently, participants were advised to press one of the seven emotional word response labels displayed below the facial stimuli, allowing them ample time to signify the emotion of the face. Each participant performed 70 experimental trials.
Overall, symptomatic participants were significantly impaired when it came to recognizing the following individual emotions: anger, fear, and surprise. This impairment is greater than that observed in the unaffected controls and the premanifest groups. Those in the early stage of HD who were taking the neuroleptics were significantly less accurate at recognizing the emotions of fear, happiness and sadness than the unmedicated group. However, members of the early HD group who were taking SSRI medication had results that correlated with improved facial recognition, particularly for disgust and sadness emotions.
This study showed that neuroleptic use by HD patients was associated with worse facial emotion recognition, whereas SSRI use was associated with better emotion recognition. These findings are of high significance for HD patient care since medications commonly prescribed to patients may difficult communication and affect social interactions. HD patients are more susceptible to misinterpret neutral events that are actually irrelevant as something that is significant, leading to issues such as depression. Prescribing medication-targeting symptoms such as depression seems to further alter the ability of those affected to communicate or read emotional cues from those around them. Therefore, a better understanding of the effects of neuroleptics and SSRIs is of great importance.
1. Labuschagne, Izelle, et al. “Emotional face recognition deficits and medication effects in pre-manifest through stage-II Huntington’s disease.” Psychiatry research 207.1 (2013): 118-126.
This scientific article is the primary article describing the experiment regarding emotional face recognition issues among different stages of Huntington’s disease.
2. Kipps, C. M., et al. “Disgust and happiness recognition correlate with anteroventral insula and amygdala volume respectively in preclinical Huntington’s disease.” Journal of cognitive neuroscience 19.7 (2007): 1206-1217.
This study by Kipps et al. focuses on some of the first research regarding emotional recognition in Huntington’s disease patients.
3. “Depression (major Depressive Disorder).” Selective Serotonin Reuptake Inhibitors (SSRIs). Mayo Clinic, n.d. Web. 02 July 2014.
The Mayo Clinic describes the use of SSRIs in the treatment of depression.
4. Cubeddu, Richard Finkel, Michelle A. Clark, Luigi X. (2009). Pharmacology (4th ed.). Philadelphia: Lippincott Williams & Wilkins. p. 151.ISBN 9780781771559
This resource profiles the function and use of psychiatric drugs such as neuroleptics and SSRI.
5. Ekman, Paul. “Facial expressions.” Handbook of cognition and emotion 16 (1999): 301-320.
This handbook covers various tools, techniques and practices for studying cognition and emotion.
K. Powers 2014
On Friday, July 19, HOPESters Natty, Preston and Kristen made the trip down to Santa Maria, California to attend the first ever Help4HD International Symposium. The mission of Help4HD International is to facilitate conversations in the research community by providing vital information regarding research and clinical trials to the Huntington’s disease community. For more information on the organization visit: www.help4hd-international.org
Below are the summaries of all the keynote speeches with attached video archives of the presentations:
Congresswoman Lois Capps, Representative, Santa Barbara County
Congresswoman Lois Capps, the US Representative, Santa Barbara County, made the opening address at the event. She commended the Huntington’s disease community for its resilience in the face of adversity and called for the community to continue to advance on three fronts: supporting caregivers, caring for the sick and bolstering research efforts. Rep. Capps also highlighted the policy advances in assisting Huntington’s disease afflicted individuals and their family such as the HD Parity Act which aims to waive the 24-month waiting period for Medicare eligibility for Huntington’s disease patients. In addition, as a member of the Rare Diseases Caucus, Rep. Capps pledged to push for the study of rare diseases and is positive that the research on rare diseases will produce a ripple effect that will benefit patients of other illnesses like Huntington’s disease.
Dr. Ira Shoulson, Founder HSF (Huntington Study Group) and PSG (Parkinson Study Group)
Dr. Ira Shoulson, the founder of the Huntington Study Group and Professor of Pharmacology, Neurology and Human Sciences in Georgetown University, was the first keynote speaker at the symposium. Dr. Shoulson focused on the different organizations involved in research, current state of clinical research, and explored the future of Huntington’s disease treatments. He highlights the concern of patients who register for clinical trials, as they are often worried that they might be assigned to receive the placebo treatment; he addresses this concern by emphasizing the documented benefits of the placebo effect. Furthermore, Dr. Shoulson talks about the measures put in place to protect patients undergoing clinical trials, such as informed consent measures and the regulatory processes of the FDA. He then concludes his presentation by discussing the current and future direction that Huntington’s disease research will move in. Dr. Shoulson mentions that current research can be divided into several areas: environmental factors, movement treatment, cognitive-enhancement, and gene expression modification. In the future, he believes that clinical trials may explore treating individuals possessing the dominant Huntington’s disease gene but have yet to develop the symptoms.
Ray Dorsey, MD, MBA, Professor of Neurology and Co-director, Center for Human Experimental Therapeutics
Dr. Ray Dorsey, who joined the symposium via a Skype Call, investigates new treatments for movement disorders. Using web-based conferencing, his work seeks to provide care to those with Parkinson’s disease and other diseases, regardless of their geographic location.
Dr. Dorsey began his talk by asking the community to consider what they could do to help the HD community advance research and what clinicians can do to relieve the burden of those affected by the disease.
He stated that the greatest accomplishment in recent medicine was the transformation of HIV/AIDS from a fatal disease to a chronic, manageable one in the past 30 years. Despite a lack of information about retroviruses and the immune system, researchers were able to develop and obtain FDA approval for an effective drug. Now, over the last generation, about ten drugs have been discovered to treat HIV. People can now live healthy, productive lives for decades.
He asks the audience if scientists can do something similar for Huntington’s disease. For example, Nancy Wexler came from a family affected by HD and was able to identify the gene that caused Huntington’s disease. This occurred at a time where genes were thought to cause these diseases, but it was unheard of to determine their location.
Dr. Dorsey then transitioned to how he is advancing the state of Huntington’s disease care through his work with the study, Connect. Huntington. Due to the lack of resources available to individuals in remote or rural regions, telemedicine has become increasingly important as a mechanism to provide these individuals with the care they need. These resources include consultations with neurologists and other doctors on various issues. Individuals should not be denied treatment due to their location.
The aim of the Connect.HD is to provide care to those affected by HD directly in the individual’s home via internet-connected devices like smartphones or computers. There are five states participating in this study, including California. Requirements include the presence of Huntington’s disease in the home as well as access to an internet-connected device. If you are interested in participating in this study, contact Ray Dorsey at firstname.lastname@example.org
Dr. Suzanne Pontow, Co-director, Umbilical Cord Blood Collection Program
Dr. Suzanne Pontow, Co-Director of the California Umbilical Cord Blood Collection Program at the UC Davis Health System and a Stem Cell Research Program Supervisor at the Institute for Regenerative Cures, discussed both research and clinical applications, specifically for HD patients, for neonatal stem cells and the California Umbilical Cord Blood Public Bank.
She explained that a major research tool for the Institute is the use of neonatal stem cells both in research and clinical applications. The neonatal stem cells are collected from placental tissues and cord blood. The stem cells are made up of mesenchymal and hematopoietic cells, which are multipotent cells. Multipotent cells can differentiate into many but not all types of cells. For instance, hematopoietic stem cells can differentiate into several types of blood cells and mesenchymal cells can differentiate into bone cells, cartilage cells or fat cells, but they are limited to differentiation into these areas. However, both hematopoietic and mesenchymal cells can be induced into a pluripotent state from which they can become any type of cell in the human body.
Dr. Pontow described one example, in which researchers worked with a group of at-risk newborns for autism spectrum disorders. Researchers isolated hematopoietic stem cells from the cord blood of newborns at risk for Huntington’s disease shortly after birth. The cells were cultured, induced into a pluripotent state and were differentiated into neurons. By studying these neurons, they could see if the neurons were developing normally and examine how the neurons responded to various drugs as a way to look for cures or to slow progression of the disease. This “disease in a dish” model is applicable across a wide range of disease types and allows researchers to conduct extensive research about a disease without invasive patient procedures.
Neonatal cell studies are of great importance when it comes to finding treatments for disease. These cells are readily available, easy to harvest and are “youthful”, which according to Dr. Pontow, means that they “last longer in culture and go through more successful divisions than adult derived stem cells.” These advantages allow easier assessment of immune system development and function, making neonatal cells an attractive research and therapeutic tool. With the creation of The California Umbilical Cord Blood Collection Program, there should be more of these cells available for different applications.
Dr. Peg Nopoulos, Professor of Psychiatry, Neurology, UI HD, Kids HD/Kids JHD
Dr. Peg Nopoulos, Professor of Psychiatry, Neurology and Pediatrics in the University of Iowa, focused her discussion on juvenile Huntington’s disease (JHD). Dr. Nopoulos explained the genetics behind JHD and the differences between the symptoms of adult onset HD and juvenile onset HD. She talked about the Kids-HD program, which is a specialized program where HD experts research on reducing the length of time for diagnosis of potential patients. Dr. Nopoulos explained there are difficulties diagnosing a non-specific symptom because current diagnostic tools cannot distinguish between children with and without the disease due to behavioral cues. Instead, she recommended the use of quantitative MRI as a more accurate tool, which measures the caudate volume of the brain.
Dr. Jan Nolta, Director UC Davis Stem Cell Program, Institute for Regenerative Medicine
Jan A. Nolta, director of the UC Davis stem cell program and the UC Davis Institute for Regenerative Cures, is moving forward with groundbreaking plans to use mesenchymal stem cells (MSCs) as delivery agents for two potential treatments for Huntington’s disease, BDNF (brain derived neurotrophic factor) and RNA interference. Her research goal is to slow down the striatal (responsible for movement control and communication) degeneration and coax new striatal neurons to be formed in HD patients. Her approach is to use MSC adult stem cells from the bone marrow to repair damaged tissues by responding to the scene of injury and producing healing factors.
A few years ago, she received a grant from the California Institute of Regenerative Medicine to prepare for a clinical trial, where they would implant into the brains of Huntington’s disease victims mesenchymal stem cells that have been engineered to secrete the BDNF needed to protect neurons and keep them healthy. She also has a separate multi-million dollar grant from the state stem cell agency to develop an RNAi delivery system using mesenchymal stem cells. If the trial of MSCs with BDNF is successful, it will provide proof of principle for MSCs as a delivery system for RNAi. “These grants are extremely important to California and to the field of regenerative medicine,” said Nolta. “They enable our teams of scientists and clinicians to plan stem cell clinical trials that will offer treatments to patients who currently have few if any other medical options.”
Patients with HD have much lower levels of BDNF than usual in their brain tissues and mutant protein blocks production of BDNF at RNA level. Nolta’s safe and effective strategy is to use mouse models to produce BDNF from MSC’s transplanted into the striatum as a way to delay progression and potentially recruit new neurons. Her initial data, in conjunction with previous reports, indicate that instriatal BDNF delivery, via MSCs, can prevent motor dysfunction and neuropathological abnormalities in rodent models of HD
Mr. Kevin McCormack, Communications Director, the California Institute for Regenerative Medicine
Mr. Kevin McCormack, Communications Director of the California Institute for Regenerative Medicine, emphasized the importance of the role of patient advocacy in making a difference for other Huntington’s disease patients and their families. Mr. McCormack explained that he and many others were working to connect patient advocates for Huntington’s disease to form a collective voice to impact policy decisions. He concluded his address by reinforcing the California Institute for Regenerative Medicine’s commitment to improve the lives of patients.
Kayla Horton, Graduate student, CIRM Bridges to Stem Cell Research
Kayla Horton is from a family both affected by Huntington’s disease and cystic fibrosis. Her familial connections motivated her to study medicine. Horton is studying the use of human fat tissue as a source of stem cells as she is trying to discover the difference between studying adipose cells versus bone marrow in the context of stem cell research.
Mesenchymal stem cells (MSCs) have many advantages. They are easily accessible, hypo-immunogenic, anti-inflammatory, capabilities for neurogenesis and angiogenesis.
However, there are some delivery disadvantages. This study is looking for non-invasive delivery of this treatment through intravenous administration. Currently, direct implementation means brain or spinal surgery, which implants the paramedic cells.
Horton is attempting to develop a safe, non-invasive method of delivering hMSCs overexpressing neurotropic factors in order to provide neurodegenerative and protective effects to a CNS injury. Her hypothesis is to use intranasal administration of genetically modified and preconditioned hMSCs that will efficiently migrate to cell injury.
A non-invasive chemotaxic model exploits the MSCs’ innate migratory ability. They move towards the chemicals released by an injury. The goal is to deliver it through the nose, which would be non-invasive and easily repeatable as the MSCs die off.
In a recent study, the team did observe migration of cells in mice from nasal injection to the striatum, which means that Kayla Horton’s research could maybe one day provide a mechanism through which MSCs can be safely delivered to the brain without invasive surgery.
Ms. Teresa Tempkin, RNC, MSN, ANP, UC Davis HDSA Center of Excellence
Ms. Tempkin’s primary focus is to be a part of the effort to find meaningful treatment for HD and to help families navigate their HD journey. She works with Dr. Jan Nolta and their objective is to obtain FDA approval in order to successfully complete a 2 year phase I trial of cellular therapy in patients with early stage HD. The gene therapy development candidate is donor-derived human MSCs that have been engineered to secrete brain derived neurotrophic factor (MSC/BDNF). Via recruitment from the membership of the Huntington Study Group, her team has enrolled over 325 patients in more than 14 observational studies and clinical trials since 1997. Despite extensive knowledge of the genetics and neuropathology of HD, only palliative treatments exist.
She explained that the study has two phases: Pre-cell and HD-cell. Pre-cell study is a longitudinal observational study to enroll a cohort of early stage HD patients who are potential candidates for planned cellular therapy trial. HD cell phase is the phase 1 clinical trial of MSC/BDNF neurosurgical implanted into striatum using techniques similar to deep brain simulator implantation. In conclusion, she stated that managing expectations and burden of study for participants and caregivers is paramount and that the biggest obstacle in clinical research is time, money and FDA approval.
Dr. Ellen Feigal, Senior Vice President, Research and Development, California Institute for Regenerative Medicine
Dr. Ellen Feigal, Senior Vice President, Research and Development, California Institute for Regenerative Medicine (CIRM), focused on the CIRM’s experience and future developments. Dr. Feigal explained the research development model used by the CIRM in managing the research projects under its charge. She also highlighted the challenges faced by research organizations in obtaining funding for conducting research.
Lavonne Goodman, MD
Dr. Goodman began with a question: How do we reach people and get them to see the importance of clinical trials and find the energy to participate when their families are struggling with the disease? There are plenty of families that are passionate about research, but how can they garner that passion to help buoy others into participating?
It’s very hard to find treatment resources that are evidence-based. There isn’t a lot of research that has been done in this respect so the challenge for clinicians is to figure out how to manage Huntington’s disease in a way that is safe and effective.
Goodman facilitated a panel of expert physicians worldwide to figure out best practices for caring for a patient with HD. They discussed drug treatment and approached it pharmalogically, but realized the need to educate family members about the disease and teach them how to promote the health and well being of Huntington’s disease patients. One can print out the documents and take them to one’s physician in order to provide a resource of care.
Goodman studied chorea, obsessive compulsion, behavior issues and is now presently looking at psychosis, apathy, anxiety, agitation and sleep disorder. There is currently no evidence-based treatment for these symptoms. The goal is to give some guidance to patients, families, generalists on how to properly manage these specific symptoms.
For more information on the algorithm and Dr. Goodman’s work, visit http://hddrugworks.org/
Dr. Nathan Goodman, PhD, Systems for HD
Dr. Nathan Goodman is a senior scientist at The Institute for Systems Biology in Seattle. A PhD computer scientist, he has expertise and extensive history in the building and management of large databases in biologic systems. He, with support from the Hereditary Disease Foundation, is the primary author of HDBase, a web site which assembles datasets of interest to HD researchers, including reported drug studies in HD mouse models. He is in charge of web-based data acquisition and storage. His presentation was on technology-driven research for HD treatments. To find drugs, he stated that we should start at the start and fix the “bad gene”. The second idea is to shut down the “bad gene” via ISIS RNA drugs. The third idea is to find earliest effects via human observation trials or study of HD mice. He talked about methods to find genetic modifies to slow down HD. One method he mentioned is the ISB method, which is a whole genome sequencing of HD families and individuals.
The first ever Help4HD Symposium ended with two powerful advocate stories by Francis Saldaña and Margaret Gallardo.
KP, PL & NJ 2014
Sudamérica es una región rica en la historia de la Enfermedad de Huntington (EH en español o HD en inglés). Dentro de este continente, la investigación ha sido muy importante y necesaria para descubrir el gen que causa la EH. Esta investigación se puede atribuir principalmente a que la concentración más grande de las familias afectadas en el mundo vive en esa área. A pesar de la importancia que representan las poblaciones de Sudamérica para la investigación de la enfermedad, se carece de recursos suficientes para los pacientes de dicha región.
Esta sección de Global HD tiene como objetivo destacar a aquellos países en Sudamérica que tienen una historia y una significancia en relación al contexto de la Enfermedad de Huntington.
La visión de conjunto
La enfermedad Huntington (EH) es el trastorno poli nucleótido más prevalente en Sudamérica. En Venezuela, la prevalencia de la enfermedad es 1 en 20,000 personas. Sin embargo, Maracaibo, uno de los regiones de los lagos más al norte del país, tiene una prevalencia de 7 casos entre 100 personas. Como resultado de esto, Venezuela es un país muy importante porque hay muchas personas en Maracaibo que pueden avanzar la investigación en relación a esta enfermedad.
Americo Negrette nació en Venezuela en 1923 y estudió medicina en la Universidad Central de Venezuela. En 1942, mientras instruía en la región San Francisco de Maracaibo, Negrette se percató de pacientes caminando entre las calles con andares extraños, a quienes las personas de la localidad se refieren como “Santiveros.” Negrette identificó así la enfermedad hereditaria de Huntington, también conocida como “el mal de San Vito.” En 1955, Negrette presentó sus observaciones clínicas al VI Congreso de las Ciencias Médicas en Venezuela. En 1963, dedicó dos secciones de su libro a la enfermedad y su expresión en sus pacientes.
Años más tarde, Nancy Wexler, una científica americana, y su equipo empezaron a colaborar con las familias afectadas de Maracaibo. Como resultado de los avances en la investigación del ADN recombinante, el “equipo de Gene Hunter,” como se les llamaba, fueron capaces de iniciar un estudio en el que se crearon las genealogías de las familias de la vasta red de los pacientes de la región.
Debido a que el registro de la genealogía fue tan completa, los investigadores fueron capaces de descubrir que todos los residentes del Lago Maracaibo tienen un antepasado común, María Concepción Soto, quien llegó en la región durante el siglo XIX Ella es considerada la “fundadora” de aproximadamente 20,000 descendientes en riesgo de contraer la enfermedad que se pueden remontar de ella.
Con estos datos, el equipo fue capaz de reducir el lugar específico del gen de la enfermedad de Huntington en 1983. Este descubrimiento fue muy importante, no sólo para buscar una cura, sino que, además, para comprender de la herencia genética.
Casa Hogar Amor y Fe
La Casa Hogar Amor y Fe fundada en 1999 gracias a las familias de Maracaibo quienes han contribuido a los avances científicos en la investigación de la enfermedad Huntington. Como resultado de la pobreza y la falta de los recursos en el región, Casa Hogar sirve como un sistema de apoyo para las personas afectadas por la enfermedad.
Para más información sobre la casa, visita http://hdfoundation.org/casa-hogar-house-of-love-and-hope/
Asociación Venezolana de Huntington
La Asociación Venezolana de Huntington tiene muchos recursos e información en relación a la enfermedad Huntington. El sitio es en español y su enfoque es sobre los tratamientos, las conexiones médicas y las clínicas para los venezolanos.
Para más información, visita avehun-venezuela.webnode.com.ve
La visión de conjunto
Perú tiene la segunda población más grande de pacientes con la enfermedad de Huntington en Sudamérica. Este país cerca del océano pacifico tiene un significante potencial para la investigación epidemiológica, pero no han habido muchas inversiones en el pasado. Similar a otras regiones afectadas en Sudamérica, Perú lucha con la provisión de los recursos básicos a las personas afectados por la Enfermedad de Huntington. Mientras que han sido pocos los investigadores que han iniciado la investigación en esta región, el desarrollo se encuentra en las etapas iniciales.
La primera familia identificada con la enfermedad fue descubierta en 1952 en la zona norte del Perú. En 1980, se identificaron los primeros casos de la EH en Cañete. Este poblado, al sur de la capital del Lima, Perú tiene una prevalencia de 45 casos en cada 100,000 personas. Es la segunda concentración de población más grande en Sudamérica. Los científicos han descubierto que la prevalencia se debilita a medida que se va alejando de Cañete. Por lo tanto, mientras más lejos se encuentre de Cañete, encontramos menos casos de pacientes con EH.
Dr. Carlos Cosentino
Dr. Carlos Consentino es un investigador peruano que está estudiando la región de Cañete ha investigado su prevalencia y comenzó con una pequeña cantidad de pruebas clínicas y proyectos de investigación para la enfermedad en el país entero. Mientras los recursos en el Perú son escasos para las personas con la enfermedad, el Dr. Cosentino hace su mejor esfuerzo para proporcionar servicios tales como el asesoramiento genético y el apoyo a familias con personas afectadas por la enfermedad.
La sociedad Huntington de Perú
Este sociedad no tiene un sitio, pero puede enviar las preguntas a María Begazo Viza cuyo , e-mail es mbegazo8@LatinMail.com
La visión de conjunto
En un país con más de 15 millones de personas, hay sólo 300 casos reportados con la enfermedad de Huntington, la mayoría se encuentran en las ciudades grandes como Santiago. La Agrupación Huntington de Chile cree que hay una prevalencia más alta, pero hay pocos esfuerzos o recursos disponibles para recopilar datos precisos dentro Chile, específicamente en las regiones rurales, en donde el 15% de la población vive. Por lo tanto, se necesita mayor análisis de datos para evaluar la población afectada por la enfermedad en Chile.
Las personas importantes
Dr. Claudio Hetz
Dr. Hetz, un profesor de inmunología y enfermedades infecciosas de Harvard, sirve como un co-director del Instituto de Neurociencia Biomédica de la Universidad de Chile. Con un equipo de científicos chilenos, el Dr. Hetz desarrolló un virus terapéutico que al ser examinado con ratones, se encontró ser muy efectivo en el control e incluso en la reducción de los síntomas de la EH. Este tratamiento se aplicó directamente al cerebro para revertir el daño del nervio en la región. Pese a que este tratamiento no está disponible en humanos, los resultados indican un futuro prometedor para futuras pruebas clínicas. (Si desea leer el artículo científico completo se puede acceder aquí).
Rodrigo Osorio es un emprendedor chileno, presidente de la Fundación Chilena de Huntington y fundador de la Red Latinoamericana de Huntington, un recurso, este sitio está en Español que proporciona información sobre la enfermedad, con recursos específicos de las regiones de Latinoamérica. Con el apoyo de Osorio, fue posible la construcción del primer Centro Diurno para enfermos con Huntington que viven en Santiago. Con el apoyo de los proyectos como Factor-H (Ver: Los Recursos en Sudamérica), Osorio y sus organizaciones varias tratan de proporcionar más recursos básicos para mejorar la calidad de vida para las personas afectadas por la enfermedad de Huntington en Latinoamérica.
La mayoría de chilenos viven en las ciudades (85%), de los cuales un 40% de los habitantes urbanos viven en la capital, Santiago. Muchas familias con la enfermedad, que han sido identificadas viven en esta región. Para apoyar a estas familias, Rodrigo Osorio recientemente creó el Centro Diurno Huntington para los pacientes afectados por la enfermedad, construyendo esto con el apoyo de muchas organizaciones de Huntington como CETRAM, la Agrupación Chilena y dos organizaciones gubernamentales. Después de cinco meses en ejecución, la calidad de vida de los pacientes que asistieron al centro mejoraron cerca de un 32% (en general, como la medida del índice de la calidad de vida). (Para ver la presentación de Rodrigo al Congreso Mundial de la enfermedad Huntington en 2013, haga clic aquí). Sin embargo, muchas regiones en Chile carecen de este tipo de recursos básicos para las familias, específicamente fuera de las áreas urbanas. Sin embargo, es complejo ayudar o acceder a estas poblaciones porque no han sido bien identificados o localizadas en Chile. Por lo tanto, se debe desarrollar un trabajo más exhaustivo en esta área para así poder asignar los recursos que correspondan.
Esta organización tiene como objetivo el suministrar información de calidad sobre los tratamientos psicológicos, medicamentos y tratamientos y la mejora de prácticas así como el prestar del red de apoyo para los chilenos afectados por esta enfermedad.
Aplicando una estrategia integrada y multidisciplinaria el BNI tiene por objetivos: (i) explorar la organización estructural y funcional del cerebro en condiciones normales y patológicas, tanto a nivel de organismos completos como a nivel celular, (ii) capacitar y organizar a una nueva generación de investigadores y clínicos en un entorno transdisciplinario único, (iii) producir investigación clínica de alto nivel y transferir sus resultados a la sociedad mediante el descubrimiento de nuevos enfoques diagnósticos y terapéuticos para mejorar la calidad de vida de los pacientes neurológicos o con trastornos psiquiátricos, y (iv) convertirse en un centro de recursos para profesionales clínicos especializados y el público en general.
“Chile.” Wikipedia. Wikimedia Foundation, n.d. Web. 18 Jan. 2014. <http://en.wikipedia.org/wiki/Chile>.
“Estudio: Cómo Es Vivir Con Huntington.” LaSegunda.com. N.p., 16 Mar. 2012. Web. 20 Jan. 2014. <http://www.lasegunda.com/Noticias/Buena-Vida/2012/03/730292/Estudio-Como-es-vivir-con-Huntington>.
La visión de conjunto
Como resultado de un país de tan grande extensión como Brasil, no hay números definitivos en relación a la prevalencia de la enfermedad en el país. Sin embargo, hay regiones específicas donde la enfermedad de Huntington ha sido localizada en el sector de Feira Grande en el norte de Brasil. Los investigadores identificaron 22 casos de HD adentro de la población de 22,000 este país. Este número indica una prevalencia de 1 entre 1000 individuos que desarrollará la EH. La prevalencia de EH es resultado del alto número de matrimonios entre hermanos en esta región.
No hay un gran registro sobre la historia de Brasil respecto a la enfermedad de Huntington. Las normas culturales y sociales dentro de este país han sido enfáticas a la hora de mantener el secreto dentro de las familias cuando se refiere a la EH. Debido a este estigma, los científicos sólo han comenzado a estudiar las poblaciones como un resultado del lento proceso de desmantelamiento de dicho estigma.
Los investigadores, sin embargo, ahora han determinado – tentativamente- el origen de la enfermedad en Brasil. Muchas de las genealogías muestran rastros de África, dado que muchos brasileros tienen ancestros de negros africanos que fueron forzados a venirse a Sudamérica durante el periodo de esclavitud. Sin embargo, sí parece haber una leve variación dentro de estas poblaciones, especialmente debido a la mezcla entre familias. Ahora bien, pese a que la forma genética de la enfermedad existe aquí in Brasil y pareciera que fueron los descendientes africanos quienes trajeron consigo un fenotipo similar a la EH (HDL). Se requiere de mayor investigación para lograr determinar la prevalencia y la historia de la EH en Brasil.
En Septiembre del 2013, Brasil organizó el congreso mundial de la enfermedad Huntington. Este congreso fue un hito importante para los brasileros afectados, debido principalmente al estigma que rodea la enfermedad que ha obstaculizado el desarrollo social en la región por décadas. Sin embargo, los anfitriones del congreso destacaron constantemente su emoción al llevar a cabo el congreso en Brasil como una etapa importante en vías de la eliminación del estigma social.
Las personas importantes
Dr. Monica Santoro Haddad
Dr. Haddad, director de la Academia Brasileña de Neurología, ha estado apoyando activamente las familias afectadas durante 25 años de su carrera. Ha trabajado con más de 400 familias en el Hospital das Clínicas de la Universidad Sao Paulo y tratando a un menor porcentaje de éstas en su práctica privada (Serbin, 2013).
En una entrevista que se llevó a cabo para Serbin, Dr. Haddad explica como la discriminación en Brasil ha generado grandes obstáculos para ayudar a las personas afectadas por la EH. Como ya mencionamos anteriormente, el estigma tiene un gran peso en lo que previene a las personas afectadas por la enfermedad a hablar de ésta con personas que no son parte de sus familias. Ahora, si una persona afectada no muestra síntomas o si no han confirmado su estatus genético con un examen, ignoran su existencia. Esta repuesta afecta a la población entera con EH en Brasil porque sólo hay un grupo pequeño de personas que están dispuestas a participar en los estudios clínicos, que puede ayudar a conducir a tratamientos y finalmente, una cura para la enfermedad. También, y a diferencia de lo que sucede en los E.E.U.U., los brasileños no participan activamente por la causa ni donan dinero a las organizaciones sin lucro, causando una gran escasez en el financiamiento.
El Dr. Haddad espera que el Congreso mundial 2013, que se celebró en Rio de Janeiro, promueva la idea de la participación al interior de la comunidad Brasileña afectada así como que aumenten los números de participación para las pruebas clínicas, específicamente ENROLL-HD.
La misión de esta Asociación es la de proporcionar apoyo directo a las familias afectadas, así como educar a los profesionales sobre las peculiaridades de la enfermedad que deben tomarse en consideración.
Alencar, Lopez, Figueiredo, and Monileó. “Prevalence of Huntington’s Disease in Feira Grande, a Small City in Northeastern Brazil.” Journal of Neurology, Neurosurgery, and Psychiatry (2010): 81. Print.
Burton, Adrian. “Hope, Humanity, and Huntington’s Disease in Latin America.” The Lancet Neurology12.2 (2013): 133-34. Print.
Serbin, Ken. “At Risk for Huntington’s Disease.” : Brazil’s Big Place on the Huntington’s Disease Map. Cure HD, 2 Apr. 2013. Web. 19 Jan. 2014. <http://curehd.blogspot.com/2013/04/brazils-big-place-on-huntingtons.html>.
Teive, Hélio. “Huntington’s Disease like Phenotype: New Date from Brazil and What We Knew between Heaven and Earth.” Arquivos De Neuro-Psiquiatria 69.3 (2011): 417-18. Web.
La visión de conjunto
Colombia no refleja la prevalencia astronómica de la enfermedad como es el caso de su país vecino, Venezuela. Sin embargo, hay varias comunidades claves donde se han experimentando los efectos devastadores de la enfermedad: Magdalena, Juan de Acosta, Antioquía, Chocó, Medellín y Bogotá. Estas regiones difieren de muchas otras regiones en el mundo, debido a que los afectados a menudo viven en extrema pobreza, que no sólo afecta el bienestar del paciente, sino que a esto se suma la tensión financiera, física y emocionalmente, para los miembros de las familias y los cuidadores. Así, una de las principales problemáticas de las familias en estas regiones es la falta de los recursos básicos.
El significado cultural
La escasez de los recursos básicos se torna en un gran problema para las personas que viven con la enfermedad en Colombia. Muchas de las familias viven en extrema pobreza y con malas condiciones de vida. Estas condiciones pueden afectar la calidad de vida, tales como la escasez de alimentos, de agua potable y la dificultad de acceso y salida de sus viviendas.
Factor-H es un organización que busca mejorar la calidad de vida de los pacientes enfocándose principalmente en regiones como Medellín, una gran cuidad urbana en la parte central de Colombia. Medellín se caracteriza por sus vastas redes de tugurios y viviendas de bajos ingresos. Debido a la presión financiera sobre las familias de Huntington, la mayoría de aquellos que experimentan los síntomas motores a menudo terminan en barrios marginales. Estas condiciones habitacionales pueden ser muy peligrosas para aquellos con estas condiciones motores, por ejemplo, la extensa cantidad de callejones, niveles y escaleras que una persona necesita atravesar para hacer su propio camino.
Las familias con la EH en Colombia, así como en otros países similares en América del Sur, enfrentan diversos retos diferentes a los de las familias en otros países del mundo dada las condiciones de extrema pobreza. Si esto dificulta la capacidad para proporcionar la ayuda necesaria para una familia promedio, mucho menos en aquellas familias con varias personas que presentan síntomas de la EH. Por lo tanto, se hace imperativo destacar la importancia de los sistemas de soporte estructural que son necesarios para una adecuada atención médica en este país.
Esta fundación busca mejorar la calidad de vida para las familias con Huntington en Colombia. Este blog sirve como un recurso para la comunidad.
Esta asociación sirve como un recurso primario para las familias e individuos afectados para la enfermedad en Colombia.
1. Factor-H (factor-h.org)
Un proyecto social sin ánimo de lucro que persigue aumentar la conciencia sobre las personas que conviven con la enfermedad de Huntington o están afectadas por la misma, así como facilitar ayuda humanitaria y médica para disminuir el sufrimiento de las comunidades locales en América Latina.
2. Moscovich, Mariana, Renato P. Munhoz, Nilson Becker, Egberto Reis Barbosa, Alberto J. Espay, Roberto Weiser, and Hélio A.G. Teive. “Américo Negrette and Huntington’s Disease.” Arquivos De Neuro-Psiquiatria 69.4 (2011): 711-13. Print.
Una entrada de diario que relata la obra de Américo Negrette, una figure hisórica importante en la investgacion de la enfermedad Huntingon.
3. Red Latinoamerica de Huntington (rlah.net)
Un grupo de profesionales de la salud, científicos y familiares que aportamos a la investigación en búsqueda de tratamientos efectivos para la Enfermedad de Huntington
Muchas gracias a los editores por su ayuda: María Jesús Osorio Lafontaine y Erica Fernandez Zamora
Si tiene algunas recomendaciones, visita nuestra página de contacto aquí.
K. Powers 2014
The part of the brain most affected by Huntington’s disease, the basal ganglia, are groups of nerve cells (neurons) at the base of the brain. Basal ganglia are responsible for the motor movements of the muscles in the body. When cells in basal ganglia die, a common pathological symptom of HD, a person experiences uncontrollable muscular movements similar to that of fidgetiness. Another disease that produces similar uncontrollable movements symptom is the Parkinson’s disease due to the disease’s effects on a specific area of the basal ganglia called the substantia nigra.
A new app for intelligent glasses, such as Google Glass, might make it possible to improve the gait of patients suffering from Parkinson’s disease.
Australia is a part of world where extensive research regarding Huntington’s Disease has been done on a variety of different subtopics. Researchers have been able to draw conclusions about reproduction, age of onset, and the origins of the disease. They have also come to realize that prevalence varies throughout the continent, reaching as high as 12.1 individuals per every 100,000 in some areas. In an attempt to support individuals affected by HD, Australia appears to have developed a large and supportive HD community spread throughout the continent. In fact, the 2011 World Congress on Huntington’s Disease was hosted in Melbourne, Australia.
This section of Global HD aims to highlight regions within Australia in which the HD populations have been studied, and where history and significance within the HD context have been demonstrated.
Tasmania, an island state located 150 miles off the southern coast of Australia, is the region within the Australian Commonwealth that has been shown to have the highest prevalence of HD, with 12.1 cases per 100,000 people. This is a unique and somewhat surprising finding considering that, in most Western countries, it is predicted that the prevalence of HD is 5 to 7 cases per 100,000 individuals, which is a statistic that is more on par with the rest of the Australian continent. The unusually high prevalence that has been noted in Tasmania has prompted researchers to conduct a variety of studies regarding the region’s HD population, making it a well-studied and important area in the context of global HD.
In 1949, Dr. Charles Brothers came across a large Tasmanian family that was presenting symptoms of HD. This family has continued to be studied over the years, but for medical confidentiality purposes, they are known in research literature only as “the Brothers family.”
It is believed that HD was first brought to Tasmania in 1842 by an English woman identified as “Mary.” Mary was born in Long Sutton, Somerset, England in 1806, and appears to have inherited the disease from her father, “Robert,” who was born in 1776 in Somerset. Researchers have named “Robert” the originator of HD in Tasmania, and he is considered to be the first generation of the Brothers family.
Mary married several times before leaving England for Launceston, Tasmania with her husband, “Charles,” and her seven children in 1842. Mary proceeded to give birth to seven more children in Tasmania. Of her 14 children, nine developed HD. All nine children later went on to have children of their own. As of 1990, seven of these nine lineages still had living descendants, with six branches containing descendants that were either at risk or affected by HD.
Nine generations of the Brothers family have been studied, and more than a century after Mary’s death, there have been 765 identified family members living at risk. The average age of onset for affected Brothers family members was found to be 48.6 years old, and the average age of death was 61.8 years. Fertility studies showed that there was no evidence that suggests that the ability to reproduce was negatively impacted in any of the affected individuals. In fact, the disease appeared to correlate with greater fertility amongst Brothers family members, while led to past (and now out-dated) medical recommendations that at risk individuals be sterilized once they had achieved their desired family size.
Studying the Brothers family lineage provided researchers with a better understanding of HD and helped explain the higher than expected prevalence of HD in Tasmania by allowing them to trace the disease back to a single common ancestor.
The fact that Tasmanians with HD can be traced back to a common ancestor appears to explain the higher than expected prevalence of HD in Tasmania.
The Global HD research and articles received partial support from the Bingham Fund for Innovation in the Program in Human Biology.
Resources in Tasmania
Huntington’s Disease Association within the Tasmanian Department of Health and Human Services
The Huntington’s Disease Association provides support for Tasmanians affected by HD. The Association supports Tasmanian people of any age, including those living with HD, families of those affected, caregivers, and anyone at-risk of developing HD. The association can provide financial and moral support, special equipment, food supplements, information booklets, and introductions to others affected by HD.
For more information regarding the association, please visit: dhhs.tas.gov/au/service_information/service_files/huntingtons_disease_association
Australian Huntington’s Disease Association Tasmania Inc.
The Association was established to develop educational programs and provide support for Tasmanians affected by HD. It aims to assist families with coping with and understanding the disease, all while helping these families develop a strong unified voice.
For more information regarding the association, please visit: huntingtonsaustralia.asn.au
R. Reddy 2014
In September 2013, several HOPES student researchers attended the Huntington’s Disease World Congress, held in Rio de Janeiro, Brazil. Summaries of the all the sessions attended can be found in the Conferences and Conventions section of our site.
The HOPES trip to the 2013 World Congress received partial support from the Bingham Fund for Innovation in the Program in Human Biology.
Coping Skills Session
One of the most difficult ideas to accept about Huntington’s Disease is that (currently) there is no cure or treatment: it is fatal and devastating. Given this harsh reality, some of the most important skills for patients and their loved ones to acquire involve those associated with coping. On the second day of the HD World Congress in Rio de Janeiro, three lecturers shared their research and personal experiences about how to cope in a world with HD.
Suicidality in Huntington’s Disease
The first lecture entitled “Suicidality in Huntington’s Disease” was given by the researcher Aam Hubers from the Netherlands. Hubers explained that HD patients are between two and eight times more likely to commit suicide, amount to 5.7% of HD deaths coming from suicide. Five to ten percent of HD patients attempt to commit suicide, and on average at least 11% of patients admit to having had suicidal ideation within the most recent month. Suicidal ideation occurs most when patients begin having possible symptoms of HD, meaning that 20% of newly premotor symptomatic patients and newly motor symptomatic begin having suicidal ideation. These patients are more likely to use antidepressants, have a depressed mood, and tend to be more aggressive and anxious. Given these disturbing statistics, Hubers explained how her future research was aimed at discovering how HD patients who experienced suicidal ideation coped and resisted making a suicide attempt. Her data collection revealed the pressing necessity for a deeper exploration of how HD specifically can cause psychological problems and how those problems can be addressed with and without medication.
The second lecture, “Gene Veritas”, was presented by Kenneth Serbin from the United States. Serbin explained that his mother and himself had both tested positive for the HD gene, and after her death he began to search for ways to cope with what seemed like a death sentence. Serbin mentioned twelve of the coping strategies that he had written about on his blog so far at cureHD.blogspot.com. These included:
-Learning about the disease
-Gaining discipline from exercise
-Having a healthy diet
-Studying available supplements (creatine, CoQ, Omega 3, blueberry concentrate, etc)
-Taking psychiatric medications, as they have been show to have a neuroprotective effect
-Going to support groups and psychotherapy
-Finding a passion in life
-Doing “neurobics” (mental aerobics) to increase BDNF in the brain
-Going public about having HD to overcome denial and stigma
– Becoming an advocate to connect with people
-Assisting with research studies
Serbin uses these coping skills and more, he explained, to be proactive in his own health and the HD community. With the current state of scientific research, Serbin genuinely believes that testing positive for HD is no longer a death sentence if one takes control of their HD diagnosis now.
Living with HD
The third and final lecture in this session was entitled “Living with HD – Then and Now” and was given by Charles Sabine from the United Kingdom. Structured mostly as a motivational presentation, Sabine told his story about HD in his family. His father was diagnosed with HD in 1984, and surrounding that diagnosis were fear, shame, and ignorance. In 2005, Sabine and his brother both tested positive for the gene, but Sabine used his own diagnosis as a platform to emphasize the power of patient organizations in the HD community. He utilized his position as a public figure to support the passage of the Genetic Information Nondiscrimination Act (GINA) in 2008 in the United States, which protects Americans from discrimination against employers and insurance companies based on genetic information, and gave media coverage in Britain of HD organizations, events, and bills, which he continues to do today. Sabine closed his lecture noting that testing positive for HD in the present is a much less negative experience than in the past specifically because of amazing outreach done by patients and their families.
These three lectures shared one common, inspiring theme: though there is not currently a cure for HD, there is still hope! Whether it is hope for a treatment, for personal longevity of life, or even just hope for support from the HD community, there are always ways to maintain a positive outlook on living with HD if one manages to realize the exciting possibilities the future holds for curing this disease.
C. Bartlett 2013
Para una versión en Español, haga clic aquí
South America is a region rich with the history of Huntington’s disease. Within this continent, important and necessary research for the discovery of the HD gene has taken place. This research can be attributed to the fact that the largest concentration of families in the world affected by HD lives here. Despite the importance of South American populations to HD research, resources for HD patients in this region are few and far between.
This section of Global HD aims to highlight countries in South America that have history and significance within the HD context.
Please stay tuned as we update this site with more country-specific information.
The Global HD research and articles received partial support from the Bingham Fund for Innovation in the Program in Human Biology.
Huntington’s disease is the most prevalent polynucleotide disorder in South America. In Venezuela, the overall prevalence of HD is 1 in 20,000 people. However, Maracaibo, one of the most northern lake regions in the country, has a prevalence of 7 cases per 100 people. As a result, Venezuela is an extremely important country in the context of global HD.
Americo Negrette was born in Venezuela in 1923 and studied medicine at the Central University of Venezuela. In 1942, while instructing in the San Francisco region of Maracaibo, Negrette noticed patients walking throughout the streets with strange gaits, referred to by the local people as “Sanviteros.” The hereditary disease, which Negrette accurately identified as HD, was called “el mal de San Vito” (the illness of San Vito). In 1955, Negrette presented his clinical observations at the Sixth Medical Sciences Congress in Venezuela. In 1963, he devoted two sections of his book to HD and its expression in his patients.
Years later, after the death of Dr. Negrette, a student trained under his direction published information on cases of HD in the Maracaibo region. Negrette’s student had unknowingly located the population that would lead to many discoveries concerning the genetic origins of HD.
In 1979, Nancy Wexler, an American scientist, and her team began a collaboration with the affected families of Maracaibo. Due to breakthroughs in recombinant DNA research, the “Gene Hunter team”, as they were called, were able to initiate a study in which they created pedigrees, or family trees, of the vast network of HD patients in the region. Because the genealogy record was so thorough, the researchers were able to discover that all the residents of Lake Maracaibo had a common ancestor, Maria Concepcion Soto, who first arrived in the region sometime in the 19th century. She is considered the “founder” since approximately 20,000 descendants at risk for HD could be traced back to her.
With this wealth of data, the team was able to narrow down the location of the HD gene in 1983. This discovery was a huge scientific breakthrough, not only in the search for a HD cure, but also for understanding genetic inheritance.
Casa Hogar Amor y Fe (House of Love and Hope)
Casa Hogar Amore y Fe, The House of Love and Hope, was created in 1999 as a thank you to the families of Maracaibo who had contributed to the scientific advancements in HD research. Due to the immense poverty and lack of resource in the area, Casa Hogar serves as a support system for those suffering from Huntington’s disease.
Asociacion Venezolana de Huntington
The Venezuelan Association for Huntington’s offers resources and information relating to Huntington’s disease. The website is in Spanish and focuses on treatments, medical connections, and clinics available to Venezuelans.
Peru contains the second largest population of HD patients in South America. This country bordering the Pacific Ocean contains significant potential for epidemiology research, but so little has been invested in it to date. Similarly to other affected regions within South America, Peru still struggles with providing basic resources to those affected by Huntington’s disease. While some researchers have initiated research in the region, progress is still its beginning stages.
The first family identified with Huntington’s disease was discovered in 1952 in the northern region of Peru. In 1980, the first cases of HD were identified in Cañete. This region, south of the capital of Peru, Lima, has a prevalence of 45 cases per 100,000 individuals. It is the second largest concentration of Huntington’s disease in Latin America. Scientists have discovered that the prevalence weakens the further the distance from Cañete, meaning the further one travels from Cañete, the smaller the population of HD patients becomes.
Dr. Carlos Cosentino
Dr. Carlos Cosentino is a Peruvian researcher studying the region of Cañete. He has researched its prevalence, as well as created some of the first clinical trials and research projects for the disease in the entire country. While resources in Peru are vastly underfunded for those with Huntington’s disease, Dr. Cosentino is doing his best to provide services such as genetic counseling and family support to those affected.
Huntington Society of Peru
This society does not have a website, but inquiries can be sent to Maria Begazo Viza. To contact her, e-mail mbegazo8@LatinMail.com
Update: Huntington’s Disease in Peru
Author: Amanda Szerdi
The National Institute of Neurological Sciences, located in Lima, is the primary medical facility in Peru that can provide patients with a definitive Huntington’s Disease diagnosis. In June of 2011, Peru passed La Ley de Enfermedades Huérfanas or the “Rare and Orphan Illness Act.” This law provides funding for additional medical treatment and awareness initiatives for individuals affected by diseases, such as Huntington’s, that result in death or chronic disability. Federal programs and the Seguro Integral de Salud (SIS) cover the costs of appointments, transportation to clinics, treatments, and hospitalizations. Additionally, the Ministry of Health established the last day in February of each year as a “Dia Nacional de Enfermedades Huérfanas o Raras en el Peru” or a “National Rare Diseases Day in Peru.” These policies have helped to raise awareness of Huntington’s disease in Peru while striving to provide better care for patients.
Dr. Miriam Velez works at the National Institute of Neurological Sciences in Lima. She is one of the primary neurologists on staff who specializes in treating Huntington’s disease and neurodegenerative disorders. She, in addition to Dr. Carlos Consentino, are doing their best to offer genetic testing as well as education about Huntington’s disease to HD patients and their family members.
Dr. Pilar Mazzetti became interested in neurology while studying to become a medical doctor at the National University of San Marcos. She has served as the Minister of Health and the Minister of the Interior in Peru. She currently works at the National Institute of Neurological Sciences in Lima, the primary facility in Peru where Huntington’s disease is diagnosed and treated. Dr. Mazzetti has worked to introduce and develop the practice of genetic testing for neurological diseases in Peru. Relatively little research had been conducted in Peru in relation to genetic diseases, and researchers such as Dr. Mazzetti face many challenges while completing their work. Research typically does not receive sufficient funding and must be completed by doctors after caring for their regular patients at the clinic. Dr. Mazzetti’s recent work has focused on the psychiatric symptoms of HD patients in Peru as well as the genetic origins of HD in Peruvian populations.
Dr. Cornejo is the director of neurogenetics at the National Institute of Neurological Sciences in Lima. He has studied neurology and genetics in both Peru and at the University of Washington, located in Seattle. Dr. Cornejo has worked on neurogenetic studies for a variety of neurodegenerative diseases including Huntington’s Disease. He has worked with Dr. Pilar Mazzetti researching the genetic origins of Huntington’s Disease in Peruvian populations.
Source: National Institute of Neurological Sciences website < http://incngen.org.pe/>
Web pages with information regarding health insurance and care provided by the National Institute of Neurological Sciences can be found below:
National register for individuals with rare diseases:
Registro Peruano de enfermedades raras y huerfanas: <http://www.minsa.gob.pe/erh/normas.html>
Peruvian Ministry of Health:
Ministerio de Salud de Peru, pagina de seguros medicos: <http://www.sis.gob.pe/nuevoPortal/>
National Institute for the Neurological Sciences website:
Sitio web para el Instituto Nacional de Ciencias Neurologicas:
A huge thanks goes out to Doctor Miriam Velez for her help in acquiring additional information regarding how patients in Canete, Peru and surrounding areas receive care for Huntington’s Disease. While living in Peru during the summer, I contacted Dr. Velez as a HOPES student researcher. She agreed to meet with me in person at the National Institute of Neurological Sciences in Lima so that I could better understand treatment options for Huntington’s Disease patients in Peru. The hospital where patients with neurodegenerative diseases are treated is not far from popular sites such as the Monastery of San Francisco and the historical district of Lima. I was accompanied by a close friend, Cindy Maximiliano, who also lives in Lima. Her help was also essential in locating the hospital and interviewing Dr. Velez.
We were extremely fortunate to briefly visit with Dr. Velez between patient visits. She described to us how her interest in neurological disorders developed as she began to study medicine. She also informed us that the Instituto Nacional de Ciencias Neurologicas is the only clinic in all of Peru that can provide the necessary genetic tests to provide a formal Huntington’s diagnosis to any individual. Similarly, she described to us the different national health insurance programs that provide transportation to the clinic and pay for the healthcare of those with Huntington’s Disease in Peru. While many policies have been developed to improve care for patients, receiving funds is often a long process that takes time. Furthermore, loosely enforced medical regulations can make it difficult to standardize care. The visit was one of the most impactful experiences during my tim
In a country of over 15 million people, there are currently only 300 reported cases of Huntington’s disease, many of them recorded in major cities such as Santiago. The Chilean Huntington Society believes there to be a higher prevalence, but there have been few efforts or resources available to collect accurate data within Chile, especially in the rural regions, in which 15% of the population resides. Further data analysis is necessary in order to assess the population affected by Huntington’s disease in Chile.
Dr. Claudio Hetz
Dr. Hetz, adjunct professor of immunology and infectious disease at Harvard, serves as co-director of the Instituto de Neurociencia Biomédica de la Universidad de Chile. With a team of scientists in Chile, Dr. Hetz developed a therapeutic virus that, when tested with mice, was found to be highly effective in controlling, even reducing, symptoms of HD. This treatment was applied directly to the brain, reversing nerve damage within the region. While this treatment is not available to humans, the results do indicate promise for future clinical trials (The full scientific article can be accessed here.)
Rodrigo Osorio is a Chilean businessman who serves as the president of the Fundación Chilena de Huntington. Osorio founded Red Latinoamericana de Huntington, an online resource in Spanish that provides information about Huntington’s disease, with resources specific to regions of Latin America. With Osorio’s support, the first day center for Huntington’s disease patients was built last year for those living in Santiago. With the support of projects like Factor-H (see Resources in South America), Osorio and his various organizations seek to provide more basic resources to improve the quality of life for those affected by Huntington’s disease in Latin America.
The majority of Chileans reside in cities (85%), with 40% of urban dwellers living in the capital city, Santiago. Many Huntington’s disease families, that have been identified, reside in this region. In order to support these families, Rodrigo Osorio, the president of the Fundación Chilena de Huntington, recently created a day care center (El Centro Diurno Huntington) for Huntington’s disease patients, built with the support of several Huntington’s disease organizations such as CETRAM, the Agrupacion Chilena de Huntington, and two governmental organizations. After five months in operation, the quality of life for patients who attended the center improved by about 32% overall (as measured on a quality of life index). (To view Odrigo’s presentation at the 2013 World Congress on Huntington’s Disease, click here.) Many regions in Chile lack these type of basic resources for HD families, especially outside urban areas. However, it is often difficult to help these populations because they have not been thoroughly identified or located in Chile. More work in this area must be done in order to allocate resources accordingly.
Agrupacion Chilena de Huntington
This organization has multiple objectives that include providing quality information on psychological treatment, drugs, best care practices, as well as a support network of Chileans affected by this disease.
Biomedical Neuroscience Institute
BNI brings together basic and clinical neuroscientists to 1) explore the structural and functional organization of the brain, 2)produce high-level clinical research, discover new diagnostic and therapeutic approves to improve quality of life for patients with neurological/psychiatric disorders, 3) train a new generation of researchers, and 4)serve as a resource center for specialized medical professionals and the general public. (This description is a rough translation of the website description from Spanish to English)
“Chile.” Wikipedia. Wikimedia Foundation, n.d. Web. 18 Jan. 2014. <http://en.wikipedia.org/wiki/Chile>.
“Estudio: Cómo Es Vivir Con Huntington.” LaSegunda.com. N.p., 16 Mar. 2012. Web. 20 Jan. 2014. <http://www.lasegunda.com/Noticias/Buena-Vida/2012/03/730292/Estudio-Como-es-vivir-con-Huntington>.
Due to the size of a country like Brazil, there are no definite figures of prevalence across the entire country. However, there are specific regions where Huntington’s disease has been located such as Feira Grande in Northern Brazil. Researchers identified 22 cases of HD within the population of 22,000 here. This statistic indicates a prevalence of 1 in 1,000 individuals will develop HD. This rate is due to the high amount of sibling marriages in the region.
There is very little recorded history in Brazil in respect to Huntington’s disease. The social and cultural norms within this country have emphasized secrecy when it comes to families affected by disease. Because of this stigma, scientists have only recently begun studying HD populations due to the slow process of dismantling this stigma.
Researchers, however, now have tentatively determined the origin of the disease in Brazil. Many of the genealogies show traces to Africa, as many Brazilians have Black African ancestors that were forced to South America during the slave trade. However, there does appear to be some variation within these populations, especially as families have interbred. While the genetic form of Huntington’s disease does exist here in Brazil, it appears that African descendants brought with them a Huntington’s disease-like phenotype (HDL). More research is needed to determine the prevalence and history of HD in Brazil.
In September 2013, Brazil hosted the World Congress on Huntington’s disease. This Congress was a significant milestone for Brazilians affected by HD, as the stigma surrounding the disease has hindered social progress here for decades. The disease is often kept a secret by family members; there are no exact estimates on the population count for those affected by HD in Brazil. However, the hosts of the Congress frequently emphasized their excitement of having the Congress in Brazil, as it is a major first step in removing the social stigma.
Dr. Monica Santoro Haddad
Dr. Haddad, director of the Brazilian Academy of Neurology, has actively been supporting Huntington’s disease families during her 25-year career. She has worked with over 400 families at her clinic in the Hospital das Clínicas of the University of Sao Paulo and has even treated some of these families through her private practice (Serbin, 2013).
In an interview conducted by Ken Serbin, Dr. Haddad explains how discrimination in Brazil has created major obstacles in respect to aiding those affected by HD. The stigma carries great weight and prevents people from talking about it with non-family members. Currently, if people affected by the disease do not show symptoms or have not confirmed their genetic status with the test, they often ignore its existence. This response affects the entire HD population in Brazil because very few people are willing to participate in clinical studies, which could help lead to treatments, or ultimately, a cure. Additionally, unlike Americans, Brazilians do not often participate in causes or donate their money to non-profit organizations, causing a major shortage in funding.
Dr. Haddad hopes that the 2013 World Congress, which was held in Rio de Janeiro, promotes the idea of active participation within the Brazilian HD community, as well as increases participation numbers for clinical trials, especially Enroll-HD.
Asosociacao Brasil Huntington
The mission of the association is to provide support and guidance to families affected by the disease, as well as educates professionals about the peculiarities of the disease that should be taken into consideration.
For Further Reading
Alencar, Lopez, Figueiredo, and Monileó. “Prevalence of Huntington’s Disease in Feira Grande, a Small City in Northeastern Brazil.” Journal of Neurology, Neurosurgery, and Psychiatry (2010): 81. Print.
Burton, Adrian. “Hope, Humanity, and Huntington’s Disease in Latin America.” The Lancet Neurology 12.2 (2013): 133-34. Print.
Serbin, Ken. “At Risk for Huntington’s Disease.” : Brazil’s Big Place on the Huntington’s Disease Map. Cure HD, 2 Apr. 2013. Web. 19 Jan. 2014. <http://curehd.blogspot.com/2013/04/brazils-big-place-on-huntingtons.html>.
Teive, Hélio. “Huntington’s Disease like Phenotype: New Date from Brazil and What We Knew between Heaven and Earth.” Arquivos De Neuro-Psiquiatria 69.3 (2011): 417-18. Web.
Columbia, the neighbor of Venezuela, does not reflect the astronomical prevalence of Huntington’s disease, as in Venezuela. However, there are several key communities experiencing the devastating effects of the disease: Magdalena, Juan de Acosta, Antioquía, Chocó, Medellín, and Bogotá. These regions differ from many other HD regions worldwide, as those affected often live in extreme poverty, which not only affects the well-being of the HD patient, but also adds to the financial, physical, and emotional strain of the family members and caregivers. One of the greatest issues with HD families in these regions is the lack of basic resources.
A lack of everyday resources is often a huge issues for those living with Huntington’s disease in Columbia. Many of these families live in extreme poverty with poorly suited living conditions. These conditions can affect quality of life as food is often scarce, water may not be suitable for drinking, and moving in and out of the home might be impossible.
Factor-H, an organization working to enhance quality of life for this living with HD in South America, is focusing on regions such as Medellín, a large urban dwelling in the central part of Columbia. Medellín is infamous for its vast network of slums and low-income dwellings. Due to financial strain on Huntington’s disease families, many of these individuals experiencing motor symptoms end up in slums. These living conditions can be extremely dangerous for those with motor symptoms as there are often many levels of stairs and alleyways one must navigate in order to make his or her way.
Families with HD in Columbia, and other similar South American countries, face different challenges than families in other countries as they are often dealing with overwhelming poverty. This makes it difficult to provide for an average family, let alone one with multiple people exhibiting signs of HD. Columbia is important in that it highlights the structural support systems required for proper medical care in this region.
Fundacion Huntington de Columbia
This foundation aims to improve the quality of life for those suffering with Huntington’s disease in Columbia. The blog serves as a resource guide and community.
Asociación Colombianos por la Enfermedad de Huntington
The Association serves as a primary resource for families and individuals affected by the disease in Columbia.
Additional Resources in South America
1. Factor-H (factor-h.org)
A not-for-profit social project to increase awareness about people living with and affected by Huntington’s disease, and to facilitate humanitarian and medical aid to diminish the suffering of local communities in Latin America.
2. Moscovich, Mariana, Renato P. Munhoz, Nilson Becker, Egberto Reis Barbosa, Alberto J. Espay, Roberto Weiser, and Hélio A.G. Teive. “Américo Negrette and Huntington’s Disease.” Arquivos De Neuro-Psiquiatria 69.4 (2011): 711-13. Print.
A journal entry chronicling the work of Américo Negrette, an important historical figure in Huntington’s disease research.
3. Red Latinoamerica de Huntington (rlah.net)
Un grupo de profesionales de la salud, científicos y familiares que aportamos a la investigación en búsqueda de tratamientos efectivos para la Enfermedad de Huntington.
K. Powers 2014
The blood-brain barrier (BBB) is a layer of cells that block most molecules from entering the brain in order to protect this sensitive organ from external invaders. It does its job so well that delivering treatments to the brain is extremely difficult and poses a great challenge to drug development.
Researchers from the University of Nebraska Medical Center, the University of North Carolina, and Lomonosov Moscow State University in Russia have found a potential solution. In early 2013, these collaborators announced that they were successful in delivering an enzyme to the site of cell death within the brain of a mouse experiencing poor motor function characteristic of Parkinson’s disease. The researchers accomplished targeted delivery through a method called Trojan therapy. This article will explain the concept of Trojan therapy, as well as its potential application for Huntington’s disease.
What is Trojan Therapy?
The method for drug delivery is named for the Trojan War tale, during which one army snuck past the defenses of their enemy by disguising themselves within large wooden horses. The horse was presented as a gift and when it was brought behind the city’s defenses the army used the element of surprise to defeat the enemy forces.
Trojan therapy works in a similar fashion. The blood-brain barrier serves as a fortress wall for the brain. In this case, researchers disguised potential treatments within macrophages, immune cells that are allowed entry past the blood-brain barrier, making it possible to deliver the targeted therapy straight to the cells that need it.
The scientists utilized an antioxidant enzyme (proteins that combat oxidative free radicals within the body) known as catalase, to prevent cell death within the mouse brain affected by Parkinson’s disease. They engineered macrophages to carry the genetic material for catalase past the blood-brain barrier and into the brain. Once inside the brain, the macrophages attached to dying neurons, stimulating signals that called for backup to repair these neurons.
The Science behind Trojan Therapy
Oxidative stress can lead to cell damage by producing free radicals, highly reactive molecules that can indiscriminately react with and damage cellular components. Reducing excess free radicals with antioxidants is an attractive possible method to reducing inflammation caused by cell damage in Parkinson’s brains. In the past, introducing antioxidant therapies has proven unsuccessful because the treatments were not able to overcome the blood-brain barrier.
In order for this type of therapy to function properly, blood-borne macrophages must be able to carry antioxidant proteins across the blood-brain barrier to affected areas of the brain. In this study, the scientists loaded the macrophages with nanozymes, a type of enzyme that was used to clear out free radicals from the brain.
Once the macrophage finds its way into the brain, there are three options for the nanozyme to reach its specific target in the brain:
1) Transient fusion of cellular membranes
2) Formation of macrophage bridges (physical structures that repair cellular gaps) and cellular movement mechanisms and,
3) Release of exosomes – large vesicles or storage pockets in the cell – containing the nanozyme. 1
Exosomes appear to be most promising for targeting cell death as research has shown they are excellent long-distance cellular transporters. They effectively transport many biological molecules involved in making proteins from the information contained in genetic material, including proteins, mRNA, and microRNA (Zomer et al, 2010). Researchers engineered macrophages to release exosomes containing DNA, mRNA, transcription factors (proteins that attach to DNA and control transcription of genetic information to messenger RNA) and an encoded catalase protein to assist in reducing inflammation of the brain. In Parkinson’s disease mouse models, the researchers discovered that sustained production of catalase resulted in inflammatory and neuroprotective outcomes, meaning cell death and brain atrophy was not as likely in those mouse models treated by the macrophage Trojan therapy.
The expression of the encoded catalase included within the macrophage increased over time, while DNA levels remained constant, which has implications for the therapeutic efficacy. An antioxidant with greater positive outcomes might be able to be transferred to needy neurons through this mechanism of delivery.
Conclusion of Findings
The control group for this experiment utilized mouse models without inflammation. The experimental group included mice exhibiting motor signs of PD. After injecting the PD mice with the macrophages, noticeable changes occurred. The fluorescent markers used to tag the progress of the materials packaged within the macrophage showed thorough coverage of the brain, especially to regions of inflammation where cell repair support was needed. These mice were able to perform just as well as the control mice on balance tests after receiving the Trojan therapy.
Oxidative stress can lead to cell damage. Reducing excess free radicals is an attractive method of reducing inflammation in PD brains. In the past, these methods have proven unsuccessful due a lack of mechanisms to deliver therapeutic drugs across the blood-brain barrier. The research conducted by this collaboration of scientists is the first to find a potential route for overcoming these obstacles. In fact, this method might be more effective than traditional viral vector gene therapy used for these purposes.
The research by the University of North Carolina and Lomonosov Moscow State University highlights various issues faced by clinical researchers. As outlined in this article, ability to cross the blood-brain barrier plays a major role in therapy design. Additionally, as the brain is a very sensitive organ, it is difficult to gauge the toxicity thresholds for various treatments and medications. Exosomes, unfortunately, are not a silver bullet either. The efficiency of loading drugs into exosomes is a challenge, as well as the difficulty in targeting the exosome to a particular cell type or organ.
Scientist Andrew Feigin of Hofstra North Shore-LIJ School of Medicine is currently leading a human-based clinical trial in which he is trying to use virus-delivered gene therapy for PD. This method has more sustained impacts than macrophages, but is much harder to get through the brain as the immune system fights these foreign viruses trying to pass the blood-brain barrier.
Researcher Elena Batrakova of University of North Carolina aims to deliver growth factors into the brain utilizing macrophages, in order to stimulate the growth of neurons. She believes that macrophages are the solution to reversing neuronal death in patients with PD. To-date this research has only been conducted in mouse models. In order to start human trials, scientists need to prove the safety of this therapy, as well as assure this therapy can be repeated successfully. This process could take several more years before human trials begin.
What does this research means for HD?
While this study focuses on Parkinson’s disease, overcoming the challenge of effectively delivering medicine across the blood-brain barrier could be useful in preventing damage or repairing brain cells in any of the neurodegenerative disorders, including Huntington’s disease. If HD scientists develop drugs or treatments that could slow down or reverse neuronal death in Huntington’s disease patients, macrophage-based delivery, as pioneered in this research, could be a method for getting that medication across the blood brain barrier and into regions of the brain where the medication is needed. If a method of drug delivery, such as Trojan therapy, could be proven safe, effective, and broadly applicable, it would allow scientists to concentrate on drug development.
For Further Reading
1. Haney, M. J., Zhao, Y., Harrison, E. B., Mahajan, V., Ahmed, S., He, Z., … & Batrakova, E. V. (2013). Specific Transfection of Inflamed Brain by Macrophages: A New Therapeutic Strategy for Neurodegenerative Diseases. PloS one, 8(4), e61852.
2. Ahmed, Abdul-Kareem. “A Trojan Treatment for Parkinson’s Disease.” MIT Technology Review. MIT, 14 Oct. 2013. Web. 04 Nov. 2013.
3. Zomer A, Vendrig T, Hopmans ES, van Eijndhoven M, Middeldorp JM, et al. (2010) Exosomes: Fit to deliver small RNA. Commun Integr Biol 3: 447–450.