Fighting for change on Capitol Hill
Lobbying for research funding is vital for the rare disease community
Last week was a rallying cry for rare disease patients, their families, and other advocates to make their voices heard. I spent time on Capitol Hill in Washington, D.C., standing alongside fellow advocates for a week of activity centered on Friday’s Rare Disease Day.
Representing the United Porphyrias Association (UPA) as part of the EveryLife Foundation for Rare Diseases, I joined others in raising awareness and pushing for progress. For me, that’s not just a professional mission — it’s deeply personal. My son Brady lives with erythropoietic protoporphyria, an ultrarare, debilitatingly painful, light-sensitive disease.
Porphyria is just one of over 7,000 rare diseases that have been identified, and it’s hard to fathom that less than 10% of them have treatments approved by the U.S. Food and Drug Administration. The only way to make progress is through investment in science and research. That’s why I went to the Hill last week. Science and research require funding, laws that protect and support people with rare diseases, and policies that encourage the development of and access to new therapeutics.
Our congressional asks this year were clear and critical:
Protect the biomedical rare disease ecosystem. The rare disease community relies on a delicate network of research incentives, orphan drug policies, and funding streams to keep progress moving forward. Without these protections, promising treatments could stall before they reach patients.
Orphan drug incentives and rare pediatric disease designation and priority review. Developing drugs for rare diseases is costly and complex. The Orphan Drug Act, passed in 1983, provides incentives such as tax credits, grant funding, and extended market exclusivity to encourage pharmaceutical companies to develop treatments for small patient populations — like those with porphyria.
Accelerating Kids’ Access to Care Act. No child should have to wait for life-changing treatment because of bureaucratic red tape. This bill aims to speed up the process of getting children with rare diseases the care they need, regardless of where they live.
Additionally, the EveryLife Foundation launched a petition urging steady and robust federal agency leadership, increased biomedical research funding, and stronger public health agency support. This initiative directly supports the broader rare disease community and aligns with the advocacy work of the porphyria experts we depend on.
On a patient level, and as an awareness effort, we sought to have members of our community explain porphyria in their own words. The UPA team asked patients to describe porphyria in just one word. The reactions were gut-wrenching, painting a stark picture of life with this disease. Topping the list was “lonely,” followed by other words like “invisible,” “relentless,” “torture,” “debilitating,” “exhausting,” “unfair,” “nightmarish,” “painful,” and “overwhelming.” Each one speaks volumes about the silent suffering and resilience of those living with porphyria.
Leaving Capitol Hill, I felt a mix of emotions, including frustration that we have to fight so hard for basic necessities, but also hope that our voices are making a difference. I believe they are. Advocacy doesn’t always produce immediate results. Change takes time. But every conversation, every meeting, and every shared story moves us closer to a world where porphyria and other rare diseases are met with urgency, understanding, and solutions.
We are not alone. As long as we keep fighting, we’ll keep moving forward. And that is hope in action.
Note: Porphyria News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Porphyria News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to porphyria.
About the Author
Leave a comment
Fill in the required fields to post. Your email address will not be published.