My name is Katie Jackson, CEO of Help 4 HD International and a Huntington's disease family member. My husband passed away from HD five years ago, and I walked his journey with him until the end. Now, I fight for my three children, each with a 50% chance of inheriting HD. Today, I speak not only as a parent striving to save her children's lives or at least change their story but also as someone deeply involved in the HD community. We're publishing a white paper on a risk vs. benefit survey in which over 250 HD and Juvenile HD (JHD) patients participated. I'll be discussing insights from that survey.
With 19 years of advocacy, relationships with thousands affected by HD and JHD, curating clinical data from over 500 patient accounts, hosting nationwide events attended by thousands over the past decade, and conducting hundreds of interviews, I hope to provide a comprehensive perspective on the questions posed today—not just from my experience but reflecting the HD community as a whole.
When discussing the risks the HD community is willing to take, you may find our risk tolerance is higher. Living with a terminal illness that robs you of your quality of life makes you more willing to accept risks. As a generational disease, with children facing the same fate, this risk tolerance intensifies.
Regarding unknown risks, it depends on their nature. For risks manageable with medication—like fatigue, dry mouth, headaches, or slight sedation—we have a high tolerance. However, severe, life-changing risks such as heart complications, unmanageable pain or headaches, lifetime peripheral neuropathy, or any life-threatening reactions are generally unacceptable, according to our white paper and community feedback.
We understand that entering clinical trials or starting new therapies may involve unidentified long-term risks. When facing a terminal illness with diminishing quality of life, we're willing to accept potential future risks. We've already faced death as our fate, so we're prepared to confront uncertainties that may arise years later because the known outcome of HD is death and suffering.
If we had more time, especially in a progressive disease where early intervention is crucial, we might wait to learn about long-term risks before opting for gene therapy. But time isn't a luxury we have. Waiting may mean our loved ones become too advanced in the disease to qualify for future trials or therapies. If there's an option now that can slow disease progression and preserve quality of life, we're willing to take it rather than wait for a possible better therapy that may never come.
It's challenging to consider future needs for additional gene therapies when you're terminally ill; the focus is on the immediate battle. Our primary goal is to slow progression, with the ultimate aim of a cure. The potential need for other gene therapies in the future weighs less in our decision-making because we're addressing the urgent need to combat the disease damaging our bodies daily.
What should patients and care partners know about gene therapy?
Is it a single treatment or multiple?
How is it administered?
Will it have off-target effects on other genes?
How long will it last?
Is it a cure or a treatment?
All known risks and side effects, and whether they are manageable.
Effectiveness of the therapy.
Side effects of administration.
Evidence of disease improvement post-therapy.
Will it improve quality of life?
Can it reverse damage caused by the disease?
Do risks differ between early and late-stage patients?
In scenarios where multiple treatment options are available, we want to know.
Comparative effectiveness of the treatments.
Side effects of each option.
Which treatment works better at specific disease stages.
Duration and longevity of each treatment.
Methods of administration—spinal, brain surgery, oral.
Treatment schedules—monthly, bi-monthly, or one-time treatments.
Any exclusionary concurrent treatments between options.
Over a decade of hosting educational events across the nation has taught me that people come seeking hope. With a terminal diagnosis and limited treatment options, the search for hope is desperate. It's no surprise that HD has a suicide rate three times higher than the general public; there's no lonelier feeling than hopelessness.
However, that hopelessness has lessened as gene therapy trials have emerged in the HD community. Our true hope lies in gene therapies—in you, the FDA; the brilliant scientists working on potential treatments; and the sponsors enrolling participants in trials.
I conclude by emphasizing that the HD community's willingness to take risks is high. Many fight not for themselves but for their children and future generations facing HD. When confronted with a fate of prolonged loss, grief, and the loss of all quality of life, culminating in death, we are prepared to take risks.
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