In rare disease advocacy, helping one person is the whole point

My work is both personal and professional for me. That is one of the beautiful and complicated gifts of rare disease advocacy. I do this work as the president of the United Porphyrias Association (UPA). I also do it as Brady’s mom.

And that little boy, my “baby,” who was diagnosed with erythropoietic protoporphyria (EPP) at age 3, just turned 21! I need a moment to take that in.

Living with EPP, a rare form of porphyria, means that Brady and others like him experience severe reactions to sunlight and some forms of visible light. When your child is diagnosed with a rare disease, time changes. You remember moments other people may never understand: counting how many seconds he could tolerate the sun, planning every movement from the car to the door, packing the right clothes, explaining the disease again and again, watching him miss out on things, and hoping fiercely that his life would become bigger than the limits porphyria tried to place around it.

And then, somehow, that little boy turns 21. This is a joyful milestone — and also a reminder of why this work matters so deeply to me. I often say that when Brady was diagnosed with porphyria, everyone affected by the disease became my family.

I mean that.

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This includes patients, parents, siblings, spouses, caregivers, doctors, researchers, nurses, genetic counselors, volunteers, advocates, partners, and people still searching for answers. If porphyria has touched your life, you have become part of mine. I’ve got your back. And at UPA, we’ve built a web of people who have each other’s backs, too.

That web includes our extraordinary UPA team, who embrace our mission with whole hearts. They think, develop, manage, support, learn, connect, adapt, and care. They hold the big vision and the tiny details, sometimes in the same hour, sometimes in the same sentence, at all hours of the day.

It includes our volunteers and ambassadors, who show up for patients and families with compassion, experience, and generosity. It includes our president’s council, board of directors, and scientific advisory board, who help guide, strengthen, and challenge our work. It includes porphyria experts who have devoted careers to understanding these diseases and improving care. It includes families who share what they have learned so that the next person doesn’t have to feel so alone. It includes patients who tell the truth about their lives, even when that truth is hard to share, knowing it will help another.

Together, this is our porphyria family. Our porphyria web. And recently, that web was fully alive during an all-hands-on-deck doozy of a weekend!

One person is the point

UPA partnered with the American Porphyrias Expert Collaborative (APEX) to host a clinical research summit, where international experts gathered to discuss the next generation of porphyria research. The weekend also included Global Porphyria Day on May 18, raising awareness and reminding our community that they are not alone; an episode of “What’s UP, Doc? Live with Porphyria Expert Dr. Bruce Wang,” creating space for education, questions, and connection; the Coalition of Skin Diseases Hill Days, bringing patient voices to policymakers; and UPA’s International Art Challenge, bringing voices to life through art. And it involved countless emails, calls, social media posts, shared resources, family questions, expert conversations, and a team keeping the mission moving while the calendar looked completely unhinged.

And through all of it, the same truth kept showing up in different ways: Patients need better treatments, and they need to be better understood. In the research conversations, in the patient questions, in the advocacy work, and in the stories families share with us, porphyria is never just one thing. It is not only an attack, a lab result, a diagnosis code, or “sensitive skin.” It shapes the practical pieces of life: school, work, family plans, sunlight, pain, fear, mental health, independence, and the everyday moments others may never have to think twice about.

Yet, in the end, it always comes back to one person. And no, it’s not Brady, even though his story is what brought me here!

It is the one person we may have helped that day. The patient who feels believed. The family that feels less alone. The physician who thinks to test. The researcher who asks a better question. The policymaker who understands the burden more clearly. The child who sees that life can still be big and joyful and full.

In an ultra-rare disease, one person is not a small number. One person is the point. And our village, my extended family, is there for them.

That is hope in action.

P.S. Happy 21st birthday, Brady! I’m so proud of you. XO, Mom.

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.