I wish I could say there was a time in my life when I felt “normal," but there really isn’t. Some of my first memories include sitting on the number rug in kindergarten and showing off my new plastic leg braces to friends.
It was 1984 when doctors at Nassau County Medical Center in New York broke the solemn news to my parents. Their 4-year-old daughter was not just a clumsy kid; she had a neuromuscular disease called Charcot-Marie-Tooth (CMT). The only information neurologists could give them was that my hands, legs, and feet would progressively weaken over time and that there were no treatments or cure. Two years later, my little sister began showing symptoms and was also diagnosed with the same fate. You can imagine their shock to learn of our prognosis. There was no history of CMT in our family, and my parents were as strong and healthy as they come. Where many families could have fallen victim to shame, self-pity, and despair, my incredible parents decided to become overnight advocates.
From that point forward, our family became heavily involved in raising awareness and research funding as the official Muscular Dystrophy Association (MDA) poster children for Long Island, N.Y. We would bounce around from one event to another, meeting kind and compassionate individuals along the way whose missions aligned with our own; to cure debilitating diseases like CMT. These were some of the most significant years of our lives. One of the most poignant parts of it all was the healing it provided for our family. Advocacy quite literally turned our pain into purpose while also building up our confidence. We grew up experiencing the importance of volunteer work, service, and community. And we developed a deep sense of humility and gratitude for the challenges we did have because we now personally knew many families whose daily battles dwarfed our own.
Fast forward to 2021, and advocacy is now my full-time career. After volunteering for the Hereditary Neuropathy Foundation for eight years, I joined their dedicated staff as program development manager in 2018. Being part of this incredible organization has entirely turned my prior notions of patient advocacy on their head. I’ve witnessed the impact a few dedicated individuals can have on an entire disease community and the drug development process. I’ve seen mothers become empowered disease experts to save their children’s lives, funding and championing breakthrough gene therapy treatments. Long gone are the days where patients sit back and wait for a cure.
In contrast to my younger years, Patient Advocacy Organizations are anything but “poster children." Instead, we are now the driving force behind future treatments and therapies.
Here are seven reasons why:
1. We gather vital patient data through patient registries, surveys, and studies.
2. We source and implement emerging technologies to accelerate clinical research and trials with AI, apps, and innovative digital technologies.
3. We consult with and educate the FDA through Externally-Led Patient-Focused Drug Development Meetings and Critical Path Innovation Meetings.
4. We are the experts of the disease experience and its impact on daily life. We understand and evaluate benefit/risk as well as critical endpoints for clinical trial success.
5. We have our finger on the pulse of the patient community with networks covering the globe, making CMT and other rare diseases not so rare. Our vast infrastructure and programs allow for fast and efficient recruitment for clinical trials.
6. We have earned our community’s trust through extensive support and transparency as patients, families, and caregivers ourselves.
7. Our passion, drive, and sense of urgency are unmatched as we are personally affected by our disease and understand the true cost of each day without treatments.
