These 5 Changes Are Needed in the Huntington’s Community

I’ve worn many hats as a Huntington’s disease (HD) community advocate over the past 25 years, after my mom was diagnosed in the early 1990s. I’ve been a caregiver to my mom, a person at risk, a grassroots fundraiser, a public speaker, a pharmaceutical sales rep for an HD treatment, a founder of an international HD nonprofit, a friend of many in the HD community, and now an activist trying to bring positive change to the HD community.

My mom has passed, my sister and I both tested negative for HD, and I don’t have any other blood relatives who are either at risk or have been diagnosed with HD. Some might say I don’t have skin in the HD game. However, because of my involvement, some of my best friends have tested positively on the genetic tests and will one day get HD if nothing is done about it.

As I approach my 35th birthday this month, I can’t avoid the emptiness that overwhelms me as I reflect on the past 25 years. We were told 20 years ago that we’d have disease-modifying therapies by now, and that I shouldn’t worry about whether or not I had the gene, because we had the brightest minds in science on our side.

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Yet here we are, with no available treatments and many experiments toward a cure to go. If I had an HD genetic mutation, I think my life would be in a different place right now. I can’t imagine having to start that same journey with my two little kids. This sadness doesn’t last long, though, because it turns into motivation to continue pushing for new treatments.

I’m not a medical expert or a scientist, but after having many conversations about these issues, and due to my long-term involvement in the community, I’ve come up with a few changes for the HD community that I believe are needed. Following are the top five changes I hope to see in the next few years.

Genetic testing and research

We need to change how we talk about Huntington’s genetic testing. An observational study published in 2019 found that 90% of the estimated 200,000 people at risk for Huntington’s in the U.S. choose not to take a genetic test, largely because there aren’t available treatment options. People don’t want to get tested because they believe there isn’t anything they can do to stop HD.

I strongly believe this isn’t true, and we need people who know their gene status to start participating in research. I wrote about this subject in an earlier column.

Genetic testing accessibility

We need to make Huntington’s genetic testing more accessible and affordable for everyone. Recent data show that in 2018, the average cost of HD genetic testing at 47 Huntington’s Disease Society of America Centers of Excellence was $1,157. Testing shouldn’t cost more than $500. Ultimately, it should be free for everyone through partnerships with the pharmaceutical industry.

Additionally, genetic testing and counseling need to be streamlined for everyone across the U.S. and globally to offer people the same services, costs, and experiences.

Doctor appointments

We need to provide compelling reasons to people who are not yet symptomatic to have routine visits with HD physicians. If I were gene-positive and not showing symptoms, I don’t know why I would want to see an HD physician regularly. HD clinics need to rethink presymptomatic patient appointments, especially because new research opportunities are coming, and these people could play a role in that research, such as programs by PTC Therapeutics or observational studies like PREDICT HD, now known as PREVENT HD.

Diagnosis

We need to change how people are officially diagnosed with HD. James Valvano and his team at the advocacy group WeHaveAFace are working hard on Project Change to improve the clinical diagnosis process. Neuroscientist Sarah Tabrizi, of the University College London, and her team just published research last week about an updated diagnosis scale. We need to work together more — patients, advocacy groups, clinicians, researchers — to align on a single, uniform set of diagnostic criteria so that we all speak the same language.

Biomarkers

We need stronger advocacy from the HD community toward the U.S. Food and Drug Administration and other regulatory agencies regarding biomarker guidance.While there are still some things we need science to teach us, do we really have to know everything in order to move forward, or is knowing what we know now enough to encourage more clinical trials?

We still don’t have the treatments we were promised 25 years ago, but the HD community is making progress with science every day. I thank everyone who has contributed to this unified goal, and who will continue to do so.

These five changes won’t happen overnight, but if we don’t talk about them, nothing will get done. I know this is not a comprehensive list, but these are things I am most passionate about.

I’d love to hear your thoughts. Do you agree or disagree with me? Do you have comments or want to help? Please share in the comments below, keep following my column, and connect with me on social media. I look forward to continuing the conversation.

And cheers to me for officially entering my mid-30s!

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Note: Huntington’s Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Huntington’s Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Huntington’s disease.