Rare Disease Week: Celebrating the Community That Shaped My Commitment to Rare Disease Policy

As we recognize Rare Disease Week, I find myself reflecting on why I chose to pursue a career in health policy. For me, rare disease policy has never been abstract, it has always been deeply personal.

My Dad and I

Shortly before my first birthday, my dad was diagnosed with neurosarcoidosis, a rare inflammatory disease that left him permanently disabled. Growing up, I did not fully understand the medical complexity of his condition. What I understood was that our life included many medical complications, doctors appointments, and hospital visits.

One of the things I noticed early on was how frequently doctors simply were not trained to care for patients with rare diseases. It was not a lack of compassion, it was the reality that rare conditions are, by definition, uncommon, and most medical training centers on the diagnoses providers are most likely to see in everyday practice. When you live with something rare, expertise can be limited.

Patients and families often find themselves explaining the condition, repeating medical history, and connecting the dots between providers. I saw the gaps between specialists, between systems, and between what was known and what was not. I saw how much coordination fell on my father. But alongside those gaps, I saw resilience.

My dad refused to let his disability define the kind of father he would be. He taught me tennis sitting in a lawn chair in the middle of the court. He played basketball with my brother and me while holding onto a cane. He adapted everything. He showed up fully. He taught me that strength is not about physical ability. It is about persistence, creativity, and love.

Years later, rare disease entered our lives again when my niece was diagnosed with osteogenesis imperfecta, or OI, often referred to as brittle bone disease.. OI is a genetic disorder that affects collagen production and causes bones to fracture and break easily, requiring specialized and lifelong care. There is no cure.

My beautiful neice and I

Today, my niece is five years old. She is brilliant, witty, energetic, and just as curious and imaginative as any other five year old. She loves playing with her brother, her friends, and her mom. She sings at the top of her lungs and dances without hesitation. She is full of life.

My sister, her mom, is the one who carries the weight of advocacy. She researches treatment options, asks hard questions in appointments, pushes for coordinated care, and ensures that my niece has access to the specialists she needs. Like so many parents of children with rare diseases, she has had to become an expert out of necessity, learning to navigate a system that often requires families to lead the way.

While any single rare disease may affect a small population, rare disease as a whole is not rare. Approximately 25 to 30 million people in the United States are living with a rare disease.[i] That is nearly 1 in 10 Americans.[ii] And of the more than 10,000 known rare diseases, only about 5 percent have a United States Food and Drug Administration approved therapy.[iii]

That reality should challenge all of us.

The diseases may differ, but the barriers for people living with rare diseases are often similar. Delayed diagnoses. Limited provider awareness. Fragmented care. Difficulty accessing specialists. A need for more research and treatment development. And one of the most pressing issues is the transition from pediatric to adult care. As more children with rare diseases live longer, which is something to celebrate, we must ensure that adult systems are prepared to care for them. Pediatric settings are often coordinated and specialized, but many adult providers may have far less exposure to rare diseases, which often causes care to be fragmented.

My personal experience shaped how I see the rare disease policy space. I do not see abstract legislative language. I see my dad and my niece. I see families doing everything they can to make sure their loved ones receive the care they deserve.

Rare Disease Week is a celebration of the people living with these conditions and the families who stand beside them. It is also a reminder that we can and should continue to do more.

I am deeply grateful that my work allows me to partner with incredible organizations that represent patients and families living with rare diseases.

These groups are led by people with lived experience and an unwavering commitment to improving care for their patient groups. I feel privileged to come alongside them, to help translate patient priorities into policy conversations, to amplify their voices on Capitol Hill, and to support efforts that improve patient outcomes.

Taylor Thomas, MPH

Director of Government Affairs and Research

[i] National Institutes of Health. (2025, January 21). Rare Diseases | National Institutes of Health. NIH. Retrieved February 19, 2026, from https://www.nih.gov/about-nih/nih-turning-discovery-into-health/promise-precision-medicine/rare-diseases

[ii] Wan, E. L., Elkaim, Y., Gao, W., & Yoon, R. (2023). Zebras Among Us: Advocating for the 30 Million Americans Living with Rare Disease. Medical science educator, 33(5), 1239–1242. https://doi.org/10.1007/s40670-023-01856-2

[iii] U.S. Government Accountability Office. (2024, November 18). Rare Disease Drugs: FDA Has Steps Underway to Strengthen Coordination of Activities Supporting Drug Development. GAO|U.S. Government Accountability Office. Retrieved February 19, 2026, from https://www.gao.gov/products/gao-25-106774