Turning Hope Into Urgency

I’ve had multiple conversations with my good friend BJ about how we need to reframe the message in the Huntington’s Disease (HD) community from being hopeful to working with urgency. His recent column about hope sparked my interest, especially when he said “There is a large population of people with HD who have lost all hope because they don’t have time to wait for future therapies."

Although I am considered pre-symptomatic, I cannot wait around another five years for a treatment, since by then I might be clinically diagnosed and that’s too late to treat the disease.  

So how do we change this? Here are my questions:

1.  Is the HD clinical diagnostic criteria outdated?
This is something I have looked into quite a lot as of lately. I have learned a patient’s diagnosis tends to rely on the Unified Huntington’s Disease Rating Scale (UHDRS) which has a heavy focus on motor symptoms. However, we have learned in 2020 that neurofilament light chain can show changes in HD patients more than 20 years prior to clinical symptoms. If we can see these changes 20 years prior to clinical symptoms, and people tend to receive a diagnosis once showing motor symptoms, then shouldn’t we update the criteria? The simple answer is yes, but we need all stakeholders to buy into this and understand this can help more patients qualify for potential studies and get the treatment to them before it’s too late. To get started, learn more about how one organization started a petition to make this happen.

2.  How do we get better validated and approved biomarkers?
I am no scientist, but I have learned from researchers and medical professionals how certain biomarkers can help us track changes happening in the brain. A recent conversation I had with a medical professional suggested how those with HD tend to see increases in neurofilament light and decreases in the striatum. We need to find ways to keep both of these stable which means we need to treat patients prior to being clinical diagnosed.

Most pharmaceutical companies are trying to find ways to slow down or halt HD in its tracks. I’d encourage all of these companies to start collaborating earlier with patient opinion leaders, like myself, who can help accelerate medical research. By working with us, we can provide feedback to get the best trial protocols, help recruit clinical trial participants (we can discuss legal & compliance in a separate article), and provide true patient feedback and needs to regulatory agencies.

I can’t just sit around anymore and wait for others to figure this out on their own timeline. My future and many of my friends’ futures are on the line. Finding treatments for conditions like HD, are extremely difficult, but I truly believe myself and others can help accelerate these timelines to change my life for the better! Reach out to me if you want to learn more and join the movement to speed up access to disease modifying treatments for HD.

It’s time to make some noise in the HD community and start acting with urgency.