The HD Journey: The Long and Winding Road
The 18th Annual HOPES Conference, co-hosted this year by the HDSA as their Annual Northern California Chapter Conference, was a gathering of innovation, advocacy, and community. With distinguished guests from HDSA Center of Excellence, UCSF, UC Davis, Stanford, and the broader HD community, those touched by HD were able to take a step back and reflect while fervently pursuing the future and what it may hold for HD families.
The day began with two back-to-back breakout workshop sessions, each led by experts with a different focus. Some of these sessions included how to manage behavioral changes in HD, the importance of clinical trials in advancing HD treatments, how HD advocacy has impacted one person’s life, perspectives on self-care from a life coach, HD research updates, and a breakout session about living in an HD family. But the common thread throughout each of these workshops was the audience members’ active participation, their thoughtful and intentional questions propelling the presentations and making them even more impactful for everyone present.
During the first session, Jeanette Garcia spoke about her own experience being diagnosed with HD. As one of ten children to a mother with HD, she and four of her siblings have chosen to get tested and answer what she called the “genie question”: if you could know when and how you could die, would you choose to? Out of the five who have been tested, three, including Jeanette, tested positive. Since then, she has taken every opportunity to participate in research studies for HD, even before she began showing symptoms. From clinical trials — where you may or may not be receiving treatment — to observational studies that will help researchers understand this disease, Jeanette sees it as her responsibility to future generations to contribute to scientific progress however she can, and urges others to do the same. She finished with a poem she wrote about her journey of acceptance with her diagnosis as well as a call to action for those in the HD community to be aware of clinical trial options that exist, saying “I did not sign up for this, but I can sign up to end it.”
In the second session, Peter Deng, a doctoral candidate at UC Davis, spoke about updates in HD research. He began by mapping out the different levels at which various therapeutics can target HD: the protein, RNA, or DNA stages. While the CAG extension that causes HD appears in the code of the genetic information, the DNA, Deng pointed out that it wasn’t even until 2017 that we saw a treatment that actually targeted HD at this level. After explaining how various therapeutic agents are working to target buildup of the mutant huntingtin protein that occurs in HD, he then shifted his focus to research seeking to answer what he called “the four to eight million dollar question, depending on who you ask,” and one that many researchers often neglect when developing a treatment: how can it be delivered into patients? For this, he presented two solutions that are currently being developed: lipid nanoparticles and modified adeno-associated viruses. The lipid nanoparticles, while effective at delivering therapeutics in cellular models, are not able to cross the blood-brain barrier, and thus delivered intravenously, would get stuck in the liver and lungs before their transient effects go away. Viruses, however, are able to persist for a long time in cells that aren’t rapidly dividing, such as neurons. Using viral vectors to deliver their protein treatment, Deng’s research group found that treated Huntington’s model mice performed significantly better on a movement test than untreated HD mice, and only slightly worse than wild-type mice.
In the afternoon, everyone gathered in a large lecture hall for a series of presentations broken down into three parts. Stanford student and HOPES co-leader, Cole Holderman, began with the presentation of two awards to outstanding members of the HD community. Roy Nierenberg, an HD patient, advocate, and regular attendee of the Palo Alto support group was recognized as the Joseph P. Roberson Foundation HD Person of the Year 2019 for his positivity, courage, and commitment to others in face of his diagnosis. Roy commented that he is “finding things that I love in my new life…I think I’m as happy as I’ve ever been in my life. I feel positive and enjoy what I’m doing.” Dawn Green, HD partner, caregiver, and advocate was awarded the George and Marna Parks 2019 award for her unrelenting commitment to and presence in the HD community.
The afternoon continued with a panel of speakers with various experiences with HD, moderated by Lisa Kjer-Mooney, LCSW. The panel included:
- Dr. Suketu Khandhar, Neurologist, Kaiser HDSA Center of Excellence
- Jamie Fond, Genetic Counselor, UCSF HDSA Center of Excellence
- Chelsea MacPherson, Physical Therapist, Stanford HDSA Center of Excellence
- Elle Tadina-Siau, Social Worker, Kaiser HDSA Center of Excellence
- Roy Nierenberg, HD Person and Advocate
- Dawn Green, HD Care Partner, Board Member, and Advocate
Each of these panelists had the opportunity to give their take on questions about everything from the best diet for HD, the benefits of exercise for HD persons, when is the time to stop working and take that bucket list vacation, and how to stay present in the moment. Below are some of the summarized focal points presented by the panelists.
- If you have tested positive for HD, you may benefit from receiving regular care, even if you are not displaying symptoms, as it allows a medical professional to monitor you, and gives you an opportunity to learn about new updates in the HD community (Dr. Khandhar).
- Many people believe that the Mediterranean Diet may be beneficial for those with HD, but the Mediterranean Diet may seem beneficial because it is accompanied by the Mediterranean lifestyle. It’s not just the diet, it’s the lifestyle that accompanies it — exercise, fresh air, good company, good food (Dr. Khandhar).
- In late-stage HD, sometimes the best food is whatever you can get down. These individuals are prone to weight loss, so high fat foods are a good option, including ice cream (Dawn Green and Dr. Khandhar).
- Exercise may be beneficial for patients no matter what stage they are, and there is always something someone can do. The best exercise is something that interests you that you will continue to do, even if it is gardening or folding clothes (Chelsea MacPherson).
- Roy exercises and has found joy in biking and practicing Qigong (Roy Nierenberg).
- Huntington’s is not a cookie cutter disease; not only are the symptoms different (behavioral, emotional, and movement), but everyone is at a different point in their life and circumstances and you must find someone who can listen to your needs (Elle Tadina-Siau).
- Caregivers must make sure they take care of themselves as well and meet their own needs (Elle Tadina-Siau).
- Staying connected has helped Dawn through her HD journey as a caregiver. Seeing practitioners and social workers outside of the office at events such as the conference provides an opportunity to ask questions and meet people (Dawn Green).
- For loved ones with mobility issues, video calls for medical appointments can be an easier option and is something that Dawn and her husband use, but had to advocate for (Dawn Green).
- The HD community is small compared to that for many other diseases, but very familial. There is a lot to learn from each other and must be there for one another (Dr. Khandhar).
- Roy had a long road in deciding to leave the software company he was president of. His daughter “gave [him] a gift” when she took it over from him. (For more of Roy’s story, click here.)
- Dawn recommends the book The Precious Present by Spencer Johnson for anyone who is trying to live in the moment and not dwell on the past or future. When Tom was diagnosed, they made a promise to live in the moment, and they have many special memories because of this decision (Dawn Green).
- Things you want to do now you may not want to do later, so if a bucket list is more like a right now list (Dr. Khandhar).
To close the day, Adreahna Lee, a representative from Roche/Genentech presented an update on the group’s work on HD research. Details on the Generations HD1 phase III clinical study, HD Natural History Study, and Ionis-HTT phase I/IIa Study can be found on the Roche/Genentech website. She closed with some conclusions about the research being done: first, that there is data to date to support further clinical testing of RG6042 in HD, and that safety and efficacy are big questions while doing this research. For more information, the trial information support line at Genentech can be reached at 888-662-6728.
The information and community shared at this year’s conference made it an invaluable experience for patients, caregivers, and researchers alike. Thank you to everyone who attended and contributed to making the event as special as it was.