3309_SM_PatientAdvocacy_Blog (1)The lights go down. The crowd erupts in anticipation. An iconic rock band is about to step on stage, and you are about to take part in an immersive, overwhelming experience for the next three hours. I love this moment, and I’ve always wondered what it must be like on that stage, knowing that people are so inspired by what I do. 

What makes a rock star? They stand above their peers. They make the incredibly difficult (or near-impossible) look easy. They are masters of their craft and always push themselves and those around them to perform at higher levels. 

A few weeks ago, I attended my fourth World Orphan Drug Congress (WDOC) in Washington, D.C., but this one was different. This year, I got to know a group of stars that transcend my heroes in the music world. These are the stars of the rare disease patient advocacy community. What’s most amazing to me? None of them signed up for this. Not one of them planned for this. Not one of them thought this would be the path they’d walk. I’m sure they don’t see themselves as stars, yet they put in the tireless effort—physical, emotional, financial—to seek effective treatment or a cure for their or their loved one’s rare disease. They are patients, mothers, fathers, siblings and friends. 

I sat with Nathan Peck (CEO of Cure VCP), and he shared with me his excitement about Cure VCP’s first family and patient summit. He was leaving the conference early to fly to St. Louis to kick off the weekend event, and he was doing this all while battling physical ailments in his fight against VCP, a rare genetic disease that affects a person’s muscles, bones and brain. 

Patient advocacy has become a critical driving force in the development of rare disease medicines. From the early rise of patient activism to the emergence of large and influential organizations such as Parent Project Muscular Dystrophy, Cure SMA and the Cystic Fibrosis Foundation, we’ve observed the influence and impact that organized patient communities can have on drug development and commercialization. For the past 35 years, Cure SMA has invested more than $60 million in research that has led to the discovery of gene sequences now targeted by therapies, both approved and in the pipeline. Further, Cure SMA and its 100,000-plus volunteers support patients and families, help shape trial design, and work at both federal and state levels to address SMA-related issues in the newborn-screening process. 

While advocacy communities and organizations have become a critical part of the rare disease ecosystem, individual advocates have become real stars. These include Melissa Hogan (Project Alive), Neena Nizar (The Jansen’s Foundation), Andra Stratton (Lipodystrophy United), Megan O’Boyle (Phelan-McDermid Syndrome International Registry), Lori Sames (Hannah’s Hope Fund for Giant Axonal Neuropathy)—and the list goes on. During the WODC this year, I had the opportunity to meet these and other incredible individuals who fight on the front line for the life and well-being of themselves and their families and loved ones. They put in unrelenting effort to bring awareness to their disease, create funding opportunities, meet with scientific advisors, and drive dialogue with payers and Capitol Hill, all while providing care to the rare disease patients (fighters!) that they love so dearly. 

However, at times, they are overlooked. Collaborative efforts between patient communities and pharmaceutical companies don’t occur early or often enough, and don’t bring to bear the incredible passion, leadership and impact of today’s rare disease patient advocates.

In 2018, we reached a tipping point: More than half—58%, in fact—of novel FDA approvals were for rare diseases. And the pipeline is rich in orphan drugs, including a wide variety of cell and gene therapies. Each of these diseases and each of the experimental treatments for them is tough: It will be challenging to devise a clinical development program for them or to commercialize them successfully. And, of course, they will come with a high price tag. Patient advocates can and do play a role in each step of that process. Success is about much more than companies claiming to be “patient-centric”—it’s about companies centering their product development activity on patients themselves. 

Talk to any of these advocates and you will see the passion, the fight, the intensity. You will also see the inspiration and support they provide to other advocates fighting other causes. They are the ones who other advocates look to to figure out “What now?” or “What next?” They are the ones who literally and figuratively take the stage and have others like me in awe of what they’re doing and achieving. For me, they are the real rock stars.


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Topics: orphan drugs, rare diseases, pharmaceuticals, R&D, FDA, patient advocacy, clinical development, FDA approval, rare disease communities, patient advocates, World Orphan Drug Congress