Regeneron Perspectives

Listening & Learning From The Rare Disease Community

Amanda Seeff-Charny, Executive Director, Patient Advocacy October 2, 2020

The reminder that I had set over a year ago popped up on my calendar. I had to reach out to Laura. I met Laura during our preparation for Regeneron’s 2018 Rare Disease Day, where she was our invited guest for a discussion about her experience living with a rare disease. Over the course of several conversations, I had come to know Laura as much more—a vocational counselor committed to helping others, a writer and poet, a scholar with a graduate degree, someone supported by a loving family.

When Laura was 4, she was diagnosed with fibrodysplasia ossificans progressiva (FOP), a rare and disabling genetic condition that causes bones to form in muscle, tendons, ligaments, and other connective tissue. Over time, bridges of extra bone develop across joints, causing those living with the disease to gradually (and, in some cases, overnight) lose the ability to move. There are no other known examples in medicine of 1 normal organ system turning into another. Though this rare disease may impact only a subset of people—Laura is 1 of about 800 people worldwide diagnosed with FOP—for patients and their loved ones, the impact is significant.

I feel incredibly fortunate to work at Regeneron, a company committed to discovering and developing important medicines, regardless of how many people have a condition or disease.

Our mandate to “follow the science” has led us down many paths, including researching rare diseases such as Cryopyrin-Associated Periodic Syndromes (CAPS), familial hypercholesterolemia, paroxysmal nocturnal hemoglobinuria, and lipodystrophy.


A disease is considered rare by the U.S. Food and Drug Administration (FDA) if it affects fewer than 200 000 people. Even though there are 7000 known conditions classified as rare, 95% of rare diseases lack an FDA-approved treatment. This gaping treatment chasm is unacceptable to us.

Our scientists have the expertise and commitment to pursue research in rare diseases with the hopes of finding treatments. Working within this context, as Senior Director, Patient Advocacy, I am able to contribute something particularly insightful to our approach—that is, how we must study rare diseases.

We need to listen and learn, most importantly, from those who live with—or those who love those who live with—these diseases.

We must listen to and learn from individuals who so intimately know what it means to live with a rare disease. Only then can we begin to bring meaningful change to people who frequently have few or no options for addressing their disease.

I am passionate about my job. Our relationships with the patient community are incredibly inspiring and important, and if we pay attention, the input from the community can be vital to the development of new medicines. At Regeneron, I know we will always be open to listen and learn, whether we learn from people like Laura or others. Only then can we do what is right for those living with such unmet need.

The calendar reminder popped up again. I quickly sent a note, congratulating Laura on her wedding day. She responded with a picture of herself in a white dress with her husband, which allowed me to add yet another descriptor to the long list of things I had come to know Laura as: a beaming bride.

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