This documentary follows 18-year-old Kristen Powers as she undergoes the process of genetic testing for Huntington’s Disease. The documentary premiered at Stanford University on February 21, 2014. More information about the film and its screening schedule can be found at www.twitchdocumentary.com.
In the documentary Twitch, filmmaker Kristen Powers tells the story of her own journey with Huntington’s Disease and her decision to get tested for the HD gene. The documentary walks audiences step-by-step through the genetic testing process, starting with Kristen sharing her family’s history with HD and ending with her receiving the test results that will reveal whether or not she carries the gene for the disease that claimed her mother’s life at the age of 45.
The film, which has a run time of slightly under 45 minutes, contains a series of interviews with Kristen’s friends and family members, as well as a series of video diary entries from Kristen herself. These vignettes provide insight into some of the emotions experienced by individuals and families affected by HD. Twitch also contains many photographs and home videos of Kristen’s mother, Nicola, that provide viewers with a glimpse into her life before and after being diagnosed with HD. The footage reveals Nicola’s awkward gait, one of the first signs that led the family to realize something was wrong, and includes scenes from the nursing home where she spent her final days.
In addition to sharing the Powers family’s personal HD story, Twitch also features interviews with several others with family histories of HD, and is careful to provide examples of at-risk individuals who, like Kristen, have chosen to get tested alongside the stories of those who have chosen to refrain from testing. The documentary makes it clear that the decision to undergo genetic testing is a deeply personal choice, and that an at-risk individual’s autonomy and decision should be respected. Twitch also contains an interview with, and a look into the life of, an individual who has been diagnosed with HD, thereby providing audiences with an opportunity to see what it means to be symptomatic.
The documentary also does a fine job of maintaining medical accuracy throughout. Interviews with several medical professionals, including a neuroscientist who walks viewers through a series of graphics that discuss the science behind HD inheritance and the huntingtin protein, are present throughout the film and are an accurate depiction of our current understanding of HD.
The one thing that viewers should be aware of when watching the film is that Kristen’s genetic testing process was accelerated for the purposes of the documentary. Those who watch the film may notice that the time between her appointments seems to go by fairly quickly, so it is important to note that while specific procedures vary between testing centers, there can be a waiting period of several weeks in between pre-testing appointments. Other than this, however, Twitch does a good job of providing its viewers with a look into what it means to be a member of a HD family, and what the process of genetic testing is like. The documentary is factually accurate, and doesn’t make any exaggerated claims about HD.
Disclosure: Kristen Powers is a Stanford University student and a HOPES student researcher. However, Twitch is a completely independent project of Kristen’s that is not affiliated with HOPES, and Kristen played no role in the writing of this article.
R. Reddy 2014
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Malaysia
An Overview^
Malaysia is a multicultural country with three main ethnic populations. The indigenous Malaysians, Chinese and Indians make up approximately 62 percent, 29 percent and 8 percent of the population respectively. The prevalence of HD is 0.0024 per 10,000 people, based on seven reported cases.
History^
To test the hypothesis that HD in Asia has a Caucasian origin, a HD registry was established in Malaysia in 1995 at the University of Malaya Medical Centre, Kuala Lumpur. Within eighteen months, the registry had identified seven unrelated patients with HD. From these individuals, there were four Chinese, one Malaysian and two Indians. Despite the previous hypothesis set forth that HD in Asian countries originated from Europe; only one Chinese patient, out of selected seven patients, had possible Irish ancestry. Moreover, there are several social and cultural reasons that the hypothesis set forth is likely to be false. The remaining three Chinese participants did not have any relatives with Caucasian features. Culturally, Chinese women were forbidden to have close contact with foreigners. Women did not travel unless they were accompanying their husbands. Prostitution as a profession for women was deeply despised and extramarital sexual contact was strongly forbidden. Hence, it was highly unlikely that female ancestors of these patients would have sexual contact with asymptomatic Caucasian HD men and therefore result in the mixing of genes. In addition, other participants also did not have European origin, since one Malaysian patient was a local while the two Indian patients originated from Tamil Nadu and Punjab in India respectively.
There is also evidence against the European migration hypothesis from the current genetic literature. Although the nature of the abnormal trinucleotide repeats of the HD gene in Chinese patients is similar to that in Caucasian HD patients, a majority of the tested Chinese patients have a small number of excess CAG repeats. Additional genetic evidence show that there are seven CCG repeats adjacent to IT15, or the Huntington Gene, in Asians but ten CCG repeats in Caucasians. The distribution of the CCG repeat adjacent to IT15 is of seven repeats in Asians and 10 repeats in Caucasians. The distribution of the CCG repeats differs among populations of low prevalence and the west. Therefore, mutation of the IT15 gene rather than the European migration hypothesis is likely to be the explanation for the variation in Malaysian prevalence of HD.
The interim results of the Malaysian HD registry have shown that HD exists in all major racial groups in Malaysia, with all cases exhibiting an excess of CCG repeats. The theory that Caucasian migration led to genetic mixing and a resulting low HD prevalence in Malaysia is less plausible according to the data collected by the registry; more likely, cases of HD in Malaysia arose due to a separate mutation of the HD gene. Nevertheless, because only seven HD patients were identified, these conclusions should be considered with caution to avoid errors in assumption and generalization.
The Global HD research and articles received partial support from the Bingham Fund for Innovation in the Program in Human Biology.
Resources in Malaysia^
University of Malaya Medical Centre in Kuala Lumpur
In 1995, a nationwide HD registry was established at the University of Malaya Medical Centre, Kuala Lumpur. The Medical Centre is one of the major public tertiary referral hospitals. It keeps reports of clinical and genetic studies of the patients seen since the setting up of the Registry.
For more information regarding the association, please visit: http://www.ummc.edu.my/view/index.php
N.J. 2014
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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.
Therapies
The last day of the conference focused on various therapies, life habits, and treatment options. Each talk was presented by a different scientist.
Management of Behavioral Problems in HD (David Craufurd, United Kingdom)
Behavioral problems have a large effect on the quality of life for an HD patient. They may include depression, suicide, anxiety, agitation, irritability, impulsive aggressive, apathy, perseveration, psychotic symptoms, disturbed sleep patterns, and OCD; the most common symptoms are fatigue and lack of initiative or perseverance. Often, these symptoms can become more distressing than the cognitive and motor symptoms. While cognitive and psychological symptoms have a far greater impact on Functional Capacity, both sets of symptoms respond to treatments and medications available now.
Dr. Craufurd explained that depression and irritability remain at relatively equal levels throughout different stages, but anxiety is often more prevalent in late-stage HD. Treatments vary from person to person. Depression in HD patients often responds well to conventional antidepressant medication. Selective serotonin reuptake inhibitors, at higher doses, can be helpful for irritability. Physicians and other medical professionals must be aware that relapse often occurs when treatment stops. In addition to medication, general psychiatric support is needed, making a great argument for beginning cognitive behavioral therapy during early stages of the disease.
Treatment of apathy is not always pharmological, but rather, it requires psychoeducation within structured environments such as adult day care and exercise programs. Physicians should avoid the use of dopamine blocking or depleting drugs in excess as neuroleptics and tetrabenazine might worsen apathy.
One should always consult their medical professional before beginning any course of medical treatment.
Deep Brain Stimulation in HD (Binit Shah, USA)
Many HD patients experience a symptom set known as chorea, a random, involuntary arrhythmic set of movements of the face, trunk, and limbs. Chorea is thought to be a loss of striatal GABAergic inhibitory projections to the Globus pallidus externa. While pharmalogical treatments such as tetrabenazine exist, surgical treatment for chorea has become available in recent years.
Surgery to treat chorea often involves making legions in the pallidum of the brain, known as a pallidotomy. During this procedure, an electrode is inserted into the brain, heated up, and then used to target specific nuclei. The other form of brains surgery, deep brain stimulation, uses electrical fields to attack its targets. Results essentially decrease inhibition of indirect pathways, which lead to the trademark excessive moments.
Deep Brain Stimulation (DBS) is a surgical implantation of electrodes into deep brain structures while patent is awake. Connection and implementation of a pulse generator occur under general anesthesia.
As with any brain surgery, there are certainly risks, as well as candidacy factors. While DBS and pallidotomies can have immediate results, a “honeymoon effect” can occur, in which results are not long lasting. To be a candidate for this type of surgery, one must express appropriate motor symptoms that are less prominent than ataxia or dystonia. The patient cannot have severe impairments to cognitive or physiological functions as the patient must be actively engaged in the operating room and programming period. It is unclear whether these procedures are associated with adverse cognitive effects. While DBS and pallidotomy can provide some relief, it has no impact on the slowing or stopping of the progression of Huntington’s disease. Other motor features will still express and cognitive/psychological symptoms can predominate. Unfortunately, it is costly as well and is not covered by many insurance plans.
Swallowing and Nutrition (Francis Walker,US)
Huntington’s disease creates a metabolic inefficiency within an individual’s body. While appetite, food consumption and energy consumption increase in HD, weight loss is often present. Weight loss, especially in late stages, is often due to swallowing and increased movements. As for earlier stages, the causes are unclear. However, increased CAG length is associated with lower weight in HD patients.
Many problems arise with swallowing. Mylohyoid and geniohyoid muscle contractions within the throat are erratic and uncontrollable. This can lead to a delay in swallowing, retention of food in the mouth, incomplete or repeated swallows, and a lack of coordination between speaking, swallowing, and breathing. Additionally, impulsivity and eating too fast cause choking hazards. Chorea and impersistence of the tongue and pharynx result in a spillage of food.
Signs of trouble swallowing include repeated throat clearing, coughing, “wet mouth” speaking tones, progressive slowing of feeding, regurgitation, and congestion.
There are certain methodologies that can be used to ease difficulties associated with eating. In the early stages of the disease, avoid excessive eating. If weight loss is prominent, physicians should look for signs of gastritis or depression. During mid-stages, develop strategies to slow down and create smaller portions. Increased calories within meals as well as regular meal routines can help. In late stages, high-fat meals are essential for calories.
Below is a list of other tips and hints for caregivers responsible for HD patients’ meals:
• Use gravy sauces or condiments with dry foods.
• Crush medications in apple sauce.
• Avoid distractions and talking while eating.
• Learn the Heimlich maneuver.
• Place food on the back of the molars if the patient has trouble maneuvering food within the mouth.
• Use thickened liquids.
• If gurgling or wet sounds occur, ask the patient to cough.
• Make sure food is swallowed. Try swallowing twice, if needed.
Late stage treatment options and wishes in relation to quality of life (Raymund Roos, Netherlands)
End-of-life treatments and plans can be difficult for families to think about, let alone plan. HD patients face a variety of dilemmas such as pneumonia, the decision to insert a feeding tube, use of deep sedation, and even, at times, physician assisted suicide or euthanasia.
The most common causes of death for HD patients include pneumonia, choking, suicide and euthanasia. It is important for medical professionals to understand the challenges their patients face and, if applicable, in their state or country, know the options and procedures if the patient requests death with dignity. The criteria for ending life include 1) voluntary participation, 2) suffering unbearably without relief, 3) a physician must have informed knowledge of the situation, 4) no reasonable or alternative solution exists, and 5) the procedure is performed professionally and carefully.
Dr. Raymund Ross conducted a survey study in the Netherlands, where the Termination of Life and Request and Assisted Suicide Act legalizes euthanasia under strict conditions. The aim of the study was to determine whether there were any end-of-life wishes present in Dutch HD patients. Furthermore, he attempted to understand if certain disease characteristics contributed to these wishes.
75% of survey participants indicated that they had thoughts about end-of-life alternatives due to the loss of their personal dignity. Often these patients had been exposed to family members who had suffered an earlier fate, which influences the patient’s decision as he/she understands the disease progression.
Dr. Raymund Ross explored the results of discussion of euthanasia with patients, which often decreased the amount of follow-through from the patient. He also encouraged physicians to take initiative to talk to patients about end-of-life matters early on, as to not complicate matters for their caregivers when the patient can no longer make decisions for his or herself.
Further Reading
1. “Hereditary Disease Foundation – Predictive Test Guidelines.” Hereditary Disease Foundation. N.p., n.d. Web. 17 Jan. 2014. .
2. Semaka, A., L. Balneaves, and M. Hayden. “”Grasping the Grey”: Patient Understanding and Interpretation of an Intermediate Allele Predictive Test Result for Huntington Disease.” Journal of Genetic Testing (2013): 200-17. Print.
3. HSG Pharos Investigators. “At Risk for Huntington Disease: The PHAROS (Prospective Huntington At Risk Observational Study) Cohort Enrolled.” JAMA Neurology63.7 (2006): 991-96. Print.
4. Tabrizi Et Al. “Potential Endpoints for Clinical Trials in Premanifest and Early Huntington’s Disease in the TRACK-HD Study: Analysis of 24 Month Observational Data.” The Lancet 11.1 (2012): 42-53. Print.
KP 2014
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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.
On the first day of the HD World Congress in Rio de Janeiro, four speakers each gave a lecture on the basic science behind current research on the search for a treatment and cure for Huntington’s disease. The speakers were Elena Cattaneo from Italy, Tiago Fleming Outeiro from Germany, Marcy E. MacDonald from the United States, and Ignacio Munoz-SanJuan from the United States.
The lecture given by Elena Cattaneo was entitled “What Do We Really Know About Huntington Function in HD?” She explained that huntingtin is an important protein during embryonic development, such as during gastrulation, and has key functions in the living brain. The number of CAG repeats has grown in a linear progression in animals, beginning with just one repeat in sea urchins 800,000,000 years ago and increasing as multi-cellular organisms evolved into more complex beings. One example of the importance of CAG repeats is in the formation of rosettes, a special kind of grouping of cells that give structural support to neurons, during neural tube creation in the nervous system. If there are too many or too few CAG repeats in the huntingtin protein in the nervous system, rosettes will not form. Cattaneo also gave a similar example about ADAM10, which is critically important for use in the brain but is overproduced in the caudate of HD brains. Her overarching message emphasized the dynamic nature of huntingtin, a subtle point often lost in studies of the mutated version of the protein.
The next lecture by Taigo Fleming Outeiro was entitled “Molecular Chaperones in HD.” Molecular chaperones are quality-control mechanisms that monitor and regulate protein folding and degradation. Outeiro’s talk focused on the big research questions concerning the involvement of these molecular chaperones in what causes proteins to misfold, as well as when and why neurons become dysfunctional and die as a result of this misfolding. The example chaperone discussed was DJ-1, which is associated with familial Parkinson’s disease and has an increased presence in the cortex and cerebellum of HD brains. Some of its roles as a chaperone include preventing apoptosis (or breakdown) of misfolded proteins that still function and sensing oxidative stress in cells. In mouse, fruit fly, and yeast models, DJ-1 and other similar molecular chaperones (also known as orthologues) have been shown to alleviate mutant HD toxicity by refolding or rescuing misfolded proteins. Outeiro concluded that because of this research, there is hope that molecular chaperones could be used to regulate protein-misfolding disorders in the future.
Marcy MacDonald gave the next lecture, which was entitled “Is HD also a prion disease?” She immediately clarified that HD is NOT a prion disease because it does not involve Prion Proteins (or PRNPs) and it is much more common than prion diseases, such as Creutzfeldt-Jakob disease. Given that context, MacDonald emphasized that there is much more hope for finding a cure for HD than for various prion diseases because the research could take so many more routes. For example, MacDonald noted that while HD is predominantly known for being a neurodegenerative disorder that attacks medium spiny neurons in the striatum in the brain, the mutant protein is indeed in all cells and tissues of the body. She suggested that perhaps this means that the HD protein triggers an effect in all cells and tissues instead of just in the brain. For instance, the amount of energy being produced in lymphoblastoid and neuronal progenitor cells decreases as the amount of HD repeats increase in an organism. This could impact the affected organism throughout the entire span of its existence, not just after symptoms have begun. MacDonald hoped that key insights into new ways of looking at HD, such as how the entire HD process works from beginning to end in the whole body, could stimulate a variety of fresh ideas for research.
The final lecture, given by Ignacio Munoz-San Juan, was about “Synaptic Mechanisms in Huntington’s disease – Understanding the HD Brain to Develop Novel Therapeutics.” Typical therapeutic approaches include attempting to modulate mutant HD expression, modulating chemicals that decrease toxicity in the brain, and modulating mechanisms such as energy-production and protein death, which affect the organism overall. To find new therapeutic approaches, studies are being conducted observe HD as it progresses in people, in various animal models, and in specific cell-types in the body. For example, PDE10 is a powerful activator of striatal transcription and it enriches medium spiny neurons in the striatum. After observing that PDE10 is expressed more in HD brains, researchers have started testing to see how PDE10 can be used to rescue dysfunctional medium spiny neurons in HD brains and are hoping to be Phase 2 of clinical trials with PDE10. This is just one example of how observational studies have led to new research in the lab to treat or cure HD.
These four lecturers each gave a fantastic overview of the basics of current research in the search for a treatment and cure for HD, especially given their variety of backgrounds in science. There is indeed hope out there.
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This article was published on March 18, 2007 on the front page of the Sunday edition of The New York Times. The full article can be found here.
In 2007, the Sunday edition of the New York Times had a circulation of approximately 1.6 million. This meant that on Sunday, March 17 of that year, millions of readers across the world were introduced to Huntington’s disease (HD) by the front page article that was titled “The DNA Age – Facing Life with a Lethal Gene.”
The article, which ran at nearly 5000 words long, told the story of 23-year-old Katherine Moser, who had just tested positive for the gene for HD. Moser first became aware of the fact that HD ran in her family when her great uncle was diagnosed with the disease. Her own maternal grandfather began showing symptoms at the age of 50, but Moser’s mother refused to get tested, despite the fact that two of her sisters did (one sister tested positive and the other tested negative).
In the article, Moser explains that her mother did not want her to get tested either because if she tested positive, that meant that she must have inherited the gene from her mother. So Moser’s test results had implications not only for herself, but for other members of her family as well.
Eventually, after completing college and distancing herself from her mother, Moser made the decision to be tested at Columbia University Medical Center in Manhattan, and found out that her “CAG number” was 45, thereby indicating that her body contained the altered form of the huntingtin protein and that she would eventually start showing symptoms of HD.
Moser goes on to live life with the knowledge that she will eventually be developing HD. She actively chooses not to get married, works toward paying off her student loans as quickly as possible, and does what she can to seek support and teach others about HD. The article details her journey.
Despite only focusing on one individual who has yet to show the symptoms of HD herself, this New York Times article is fairly medically accurate in its description of the disease. The article provides a brief but factual description of HD as a trinucleotide repeat disorder by stating that on the fourth chromosome, “the letters of the genetic alphabet normally repeat C-A-G as many as 35 times in a row. In people who develop Huntington’s, however, there are more than 35 repeats.” It does, however, fail to mention the nuance that while individuals with 40 or more repeats do have the altered huntingtin protein, outcomes vary for individuals with 36-39 copies. However, this technicality doesn’t really come into play since it is revealed that Ms. Moser has 45 repeats.
With respect to maintaining medical accuracy, it is also important to note that while the article and the quotes contained in it refer to HD as the gene or disease that will kill Ms. Moser and other members of her family, medically speaking most people with HD do not die as a direct result of the disease. Rather, they tend to pass away from problems that arise as a result of the degenerative effects that HD has on the body. HD patients tend to die from an inability to fight off medical conditions such as infections and pneumonia.
The article does, however, do a good job of properly describing HD symptoms in a way that makes sense to the general public. Rather than using terms such as chorea to explain the uncontrollable movements that can manifest during the onset of HD, the article simply states that HD causes “cell death in the brain, leading Huntington’s patients to jerk and twitch uncontrollably and rendering them progressively unable to walk, talk, think and swallow.”
As mentioned above, in addition to medical aspects of the disease, the article delves into living with the knowledge of being positive for HD, and how that affects an individual’s decision making. Moser describes the various emotional stages that she went through after receiving her test results, including anger and an inability to face HD patients at the nursing home where she worked, but she makes it clear that she does not regret making the decision to get tested. However, the article does not make light of the genetic testing and explains to readers that choosing to get tested is a serious decision, and it is revealed that Ms. Moser was required to attend genetic counseling sessions and see a psychiatrist before getting tested.
Another important aspect of the article is that it discusses the family planning issues that arise after HD is diagnosed. Moser comments on how difficult she finds dating to be now that she knows she will develop HD in the future and she even mentions seeing a therapist who tells her that it is her “moral and ethical obligation not to have children.” This statement by her therapist is unfair and biased, and the article does touch upon that, mentioning that there are now new reproductive technologies, such as prenatal diagnosis and preimplantation genetic diagnosis, that can allow couples to ensure that their children will not have HD. However, options such as adoption, surrogacy, and sperm donation are not discussed.
Overall, the article provides an effective overview of life with HD for the general public, and serves its purpose in educating the masses about both the medical and lifestyle aspects of HD.
R. Reddy 2013
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Welcome to our Huntington’s Disease (HD) in the media section of the HOPES website!
Despite the fact that many people are not completely aware of HD and how it works, the disease has become one of the favorite “dramatic diseases” of mainstream news media and the entertainment industry. References to HD in popular culture include, but are not limited to, books (as evidenced by our site’s Literature Corner), television shows, films, radio programs, and newspaper articles.
The purpose of this section of our website is to approach all depictions of HD in the media with a critical lens media outlets often dramatize their depictions of medical conditions in an attempt to draw in viewers and readers. Symptoms are portrayed as much worse than they are in reality, incorrect diagnoses are provided, and false information is presented to audiences around the world.
To correct these misconceptions, members of the HOPES team will be going through various depictions of HD in the media to determine what aspects of HD are presented properly and what aspects are misrepresented. This section includes a synopsis of the media’s depiction of HD as well as a discussion of whether it was realistic and medically accurate.
While there are instances in which the popular media can be a helpful and accurate source of information, we hope this section of the site will remind you that is important to be cautious when obtaining your facts from these sources.
Feel free to use the site’s Contact Us form to provide us with the names of television episodes, movies, documentaries, etc. that you would like to see reviewed for this section.
1. HD in the New York Times
2. HD in Scrubs
-R. Reddy, 7-10-13
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Stages-of-HD
People with Huntington’s disease (HD) follow a path of disease progression once symptoms begin. While patients can remain highly functional in the first years of the disease, independence gives way as symptoms get worse. This article discusses the ways in which HD symptoms change from one stage to the next, the degree to which individuals are independent in day-to-day life at each stage, and some common concerns along the way.
It is important to note that this article only describes the trends: each person has a different disease course. People begin the disease at different ages, some individuals pass through the different stages of HD more slowly or quickly than others, and symptoms may arise at different times for different people. In fact, even family members can have different disease courses. While people with a higher number of CAG repeats tend to decline more quickly, for reasons described here, there are many other genetic and environmental factors that may also play a role and are the subject of ongoing research. Some of these genetic factors are described here.
Preclinical HD
Before any doctor would actually diagnose someone as having HD, the disease has already made a mark upon those who carry the genetic mutation. This phase, called the preclinical or prodromal phase, is currently of great interest to researchers, who are performing large clinical trials in order to better understand the changes people undergo prior to displaying symptoms of HD.
Symptoms
Cognitive Symptoms
In one of these clinical trials, PREDICT-HD, doctors studied cognitive symptoms in 738 people who were HD-positive but had not begun to show symptoms, and compared them to 168 controls, who were mentally healthy and did not have the HD allele. Doctors estimated how far HD-positive participants might be from having symptoms that would warrant an official diagnosis of HD, based upon age and number of CAG repeats. The researchers report that people estimated to be 15 years or more away from a diagnosis of HD are similar to the controls in all but one measure; they are not as good on tests of emotion recognition. People estimated to be 9-15 years from diagnosis tended to score lower on a few tests of cognitive ability, and people estimated to be within 9 years of a diagnosis had significantly lower scores on tests of thinking, attention, memory, and emotion processing. The researchers found that up to 40% of people in the preclinical stages of HD have mild cognitive impairment, causing them to point out the importance of understanding the preclinical effects of HD. Their study suggests that further research is needed to determine if individuals who haven’t yet been diagnosed with HD might be helped by cognitive rehabilitation or cognitive-enhancing medication.
Behavioral Symptoms
Behavioral symptoms are also likely to arise in people in the preclinical stage of HD. HD-positive people have a small increase in risk of mood problems in the 10 years before their diagnosis, and that risk increases dramatically in the year leading up to the diagnosis. Specifically, gene-positive carriers are significantly more likely to experience depression and irritability than the average person. Though this depression is due in part to the upsetting life changes associated with HD, it is also caused by the biological changes in the brain the disease brings about. One particularly worrisome aspect of this depression is the risk of suicide, which is much higher for people with HD. Suicide risk is highest in the pre-clinical and early stages of HD, particularly around the time of the genetic test.
Self-Report
A group of scientists in the European Huntington’s Disease Network wanted to understand what people with HD were most concerned about on a day-to-day basis, and interviewed 31 people in all stages of HD. For people in the pre-clinical stages of HD, the greatest concerns were social; they worried about how HD would affect family relationships, about a lack of support from friends and family, and about others’ attitudes towards HD. Social concerns were followed by emotional concerns. Those interviewed were anxious not only about their own emerging symptoms, but also about the changes that HD would bring. Legal concerns – such as planning insurance coverage and making up-front arrangements for future disabilities – played a small but noticeable role in their concerns, while cognitive and physical concerns were essentially unmentioned.
Early-Stage HD
In the early stages of HD, symptoms become noticeable enough to warrant a diagnosis. Some symptoms – particularly cognitive and behavioral symptoms – may make it harder for people to work and perform at their usual level. However, at this stage, people are still able to maintain a fairly normal lifestyle and can generally continue to work, drive, and live independently.
Symptoms
Self-Report
When interviewed about their day-to-day concerns about HD, people in the early stages of HD said they worried most about their physical difficulties; they were beginning to have twitches and jerks, and were starting to have trouble eating and sleeping. Cognitive symptoms presented the second biggest concern, as people were beginning to experience difficulty thinking through tasks that hadn’t previously been challenging. Emotional concerns also came up; patients reported low mood and motivation, and expressed anxiety about their emerging symptoms. Social concerns were mentioned, as those interviewed mentioned that relationships with family and friends were becoming more complicated because of HD, and they began to feel concerned about going out to socialize. Financial and legal concerns played a minor role.
Middle-Stage HD
By the middle stage of HD, people often lose their ability to work and drive, and might be unable to perform household chores. Eating can become challenging, as patients have trouble performing the complicated series of muscle movements needed to swallow. Speech becomes slurred, and walking becomes staggered. However, many people are still able to eat, dress, and take care of hygiene with some help. Physical therapists can help patients control their voluntary movements; speech pathologists can help patients deal with swallowing and speaking; occupational therapists can help patients deal with changes in their thoughts.
Symptoms
Self Report
Patients spoke at length about physical concerns – such as sleeping difficulties, balance, chorea, and slowness – that significantly interfere with day-to-day life. Physical problems are mentioned far more often than any other issue. Cognitive concerns are most often about slowness in completing tasks, trouble remembering information, and difficulty learning new things. Emotional issues arise, as patients are anxious about HD symptoms and the effect HD has on the family, and begin to experience mood swings and low mood. Social concerns revolve around maintaining romantic relationships, communication difficulties, and others’ attitudes and ignorance about HD.
Late-Stage HD
By the late stage of the disease, people with HD require help in all aspects of life. They are generally unable to speak, and remain bedridden. Since it becomes more and more difficult to care for a patient as the disease progresses, patients often spend the last few years of life in a nursing home. Choking is a major concern; it becomes extremely difficult to swallow, so most late-stage patients need to be fed with a tube that is inserted surgically into the stomach or small intestine. Many patients have trouble urinating or become constipated, and some patients have trouble sleeping normally. HDSA has a detailed handbook for caregivers on the late stages of HD, found here, and for further caregiver resources, click here.
Symptoms
Self-Report
In the last years, people report that their physical symptoms are most pressing, as movement, maintaining body weight, sleep, and other physical problems outweigh other issues. Emotional concerns were mentioned, with most patients reporting low mood; few reported a lack of motivation, or anger or anxiety about HD symptoms. Social concerns mostly centered on lack of support from friends, family, and health professionals. Cognitive concerns were hardly mentioned.
End of Life
Advance Directive
In the last stages of HD, patients have difficulty thinking and communicating clearly, so decisions about their end-of-life medical care often fall to doctors and relatives. However, many people with HD have strong opinions as to how they would like their last years to unfold. An advance directive, also known as a living will, allows people with HD to plan their end-of-life medical care while they are still fully capable. An advance directive is a legal document with a set of instructions describing which medical procedures should or should not be performed in the terminal stages of the disease.
Advance directives for people with HD often address several issues. The “do-not-hospitalize” directive allows a patient to avoid hospitalization near the time of death, and is generally written by those who would rather die in a familiar setting such as their own home, rather than in a hospital. The “do-not-resuscitate” directive prevents the hospital from performing emergency life-saving procedures (such as CPR) if the patient’s heart stops beating, or if he/she stops breathing. Directives also often address tube-feeding, and sometimes express the wish that the patient’s brain be donated for research.
Advance directives are a difficult topic to bring up, but they do provide the patient with measures of control over and protection of their own life choices, while also relieving the patients’ relatives of the emotional difficulties of making life-or-death decisions for the patient. Moreover, relatives generally find solace knowing that they are carrying out the wishes of the patient. For more information on advance directives, click here.
Death
Ultimately, people with HD die an average of 10-20 years after symptoms begin. Death is believed to be primarily from complications of the disease. The most common complication is aspiration pneumonia, in which patients get a fatal infection from unintentionally inhaling a piece of food. Suicide is the second leading cause of death. To read more about the complications of HD, click here.
Sources
1. Duff K, Paulsen J, Mills J, Beglinger LJ, Moser DJ, Smith MM, Langbehn D, Stout J, Queller S, Harrington DL; PREDICT-HD Investigators and Coordinators of the Huntington Study Group. Mild cognitive impairment in prediagnosed Huntington disease. Neurology. 2010 Aug 10;75(6):500-7. Epub 2010 Jul 7.
This technical article discusses cognitive changes in people with preclinical HD
2. Ho AK, Hocaoglu MB; for the European Huntington’s Disease Network Quality of Life Working Group. Impact of Huntington Disease across the entire disease spectrum: The phases and stages of disease from the patient perspective. Clin Genet. 2011 Jul 8.
This easy-to-read article discusses the concerns that most often come up for people in different stages of HD
3. Julien CL, Thompson JC, Wild S, Yardumian P, Snowden JS, Turner G, Craufurd D. Psychiatric disorders in preclinical Huntington’s disease. J Neurol Neurosurg Psychiatry. 2007 Sep;78(9):939-43. Epub 2006 Dec 18.
This medium-difficulty article discusses behavioral symptoms in people with preclinical HD
4. Klager J, Duckett A, Sandler S, Moskowitz C. Huntington’s disease: a caring approach to the end of life. Care Manag J. 2008;9(2):75-81.
This easy-to-read article goes over many aspects of end-of-life care for patients with HD
5. Nance M, Paulsen J, Rosenblatt A, Wheelock V. A Physician’s Guide to the Management of Huntington’s Disease. Third edition. HDSA: Huntington’s Disease Society of America, 2011
This is an easy-to-read manual on the science and management of Huntington’s disease.
6. Paulsen JS, Nehl C, Hoth KF, Kanz JE, Benjamin M, Conybeare R, McDowell B, Turner B. Depression and stages of Huntington’s disease. J Neuropsychiatry Clin Neurosci. 2005 Fall;17(4):496-502.
This medium-difficulty article discusses how incidence of depression changes as the disease progresses.
7. Pollard J, Best R, Imbrigilo S, Klasner E, Rublin A, Sanders G, Simpson W. A Caregiver’s Guide for Advanced-Stage Huntington’s Disease. Huntington’s Disease Society of America, 1999.
This easy-to-read handbook is a very helpful resource for caregivers taking care of people in late-stage HD
8. Simpson SA. Late stage care in Huntington’s disease. Brain Res Bull. 2007 Apr 30;72(2-3):179-81. Epub 2006 Nov 16. Review.
This easy-to-read resource has information about late-stage HD
9. “Stages of HD.” Huntington’s Disease Society of America. Web. 03 Aug. 2011. <http://www.hdsa.org/living-with-huntingtons/family-care/stages-of-hd.html>.
This easy-to-read webpage has a shorter description of the stages of HD, along with many useful documents with more details and advice for caregivers
10. Stout JC, Paulsen JS, Queller S, Solomon AC, Whitlock KB, Campbell JC, Carlozzi N, Duff K, Beglinger LJ, Langbehn DR, Johnson SA, Biglan KM, Aylward EH. Neurocognitive signs in prodromal Huntington disease. Neuropsychology. 2011 Jan;25(1):1-14.
This medium-difficulty article discusses the cognitive changes that are found in people with preclinical HD
11. van Duijn E, Kingma EM, van der Mast RC. Psychopathology in verified Huntington’s disease gene carriers. J Neuropsychiatry Clin Neurosci. 2007 Fall;19(4):441-8. Review. PubMed PMID: 18070848.
This medium-difficulty article discusses behavioral symptoms in people with preclinical HD
M. Hedlin, 8.23.11; recorded by B. Tatum, 8/21/12
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