Celebrating UPA’s immeasurable impact on its 3rd birthday

When the youngest of my three sons was diagnosed with erythropoietic protoporphyria (EPP) in 2009, I was a hot mess. His gut-wrenching pain was unbearable for him, and it didn’t make sense that it stemmed from something as natural as sun exposure. I remember crumpling on the floor. I was overwhelmed by fear, uncertainty, and a sense of helplessness — but not for long.

EPP is an ultrarare disease that causes severe pain upon exposure to visible light, making even everyday activities a challenge. The unpredictability and severity of the pain, coupled with a lack of awareness in the medical community, leaves many patients and families feeling isolated. I know I felt that way.

Years later, rising from the moments of despair, came the United Porphyrias Association, or UPA (perhaps my fourth child!) — a patient-centered organization bringing together families, researchers, and clinicians to improve care and advance science. My son’s diagnosis turned my world into one of advocacy and fighting for the needs of all people with all porphyrias.

Today, UPA stands as proof of what can happen when a community comes together with purpose and passion.

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As I’ve walked this journey and served as UPA’s president, I’ve been blessed and humbled to support the patients and families living with porphyria. Not a day goes by that I don’t feel absorbed in this work because of all the journeys I’ve come to know so well.

This week we lit candles for UPA’s third birthday! While three years might seem young in the grand scheme of things, this organization has grown quickly. Then again, we didn’t start with training wheels — we had to hit the ground running, driven by the needs of the porphyria community and our determination to make a difference. We’ve built upon decades of experience, collaboration, and dedication.

Please indulge me in this moment of pride in the UPA, which was founded by a group of expert physicians who recognized the critical need for this dedicated patient advocacy organization. Their trust and belief in me to lead the effort placed me in the presidency, and I’ll forever be grateful for their vision and leadership.

Stronger together

From the beginning, UPA has worked to bridge the gap between patients and the scientific world. Our scientific advisory board is made up of the brightest and most dedicated minds in the field, and their commitment to our community means that when we bring ideas to the table, they listen. Whether it’s launching educational resources, expanding research initiatives, or improving patient access to care, we’ve been fortunate to collaborate with experts who share our sense of urgency.

UPA is fortunate to be part of collaborative efforts like the Chan Zuckerberg Initiative’s Rare As One Network and the Rare Diseases Clinical Research Network, funded by the National Institutes of Health. These partnerships open doors for research, shared best practices, and a stronger collective voice in the rare disease space.

We’re also grateful for the relationships we’ve built with industry partners who support our work and include us in meaningful discussions about the future of porphyria treatment. Progress happens when we work together, and we’re committed to fostering those connections.

UPA wouldn’t be what it is without the people behind it. Our small but mighty team works every day to support patients, drive initiatives, and push for progress. Our president’s council helps guide our strategic decisions, and our board of directors provides leadership that ensures we stay focused on what matters most. Their collective wisdom and dedication keep us moving forward with intention.

Looking to the future

So what’s next? If the past three years have taught us anything, it’s that there’s always more work to do. For us, 2025 will be a year of action — continuing to push for better diagnostic tools, more treatment options, and increased awareness. We want to make sure that no one living with porphyria feels alone, and that every patient has access to the care and resources they need.

We know that progress in rare disease takes time, persistence, and collaboration. And we’re here for the long haul.

None of this work would be possible without the incredible porphyria community. Whether you’re a patient, caregiver, researcher, clinician, advocate, or donor, your engagement and support fuel everything we do. Every time you share your story, educate a doctor, participate in research, or offer support to someone else on this journey, you’re making an impact.

So here’s to UPA’s third birthday. To three years of growth, learning, and community. To the people who make this work meaningful. And, most of all, to the future — because there’s so much more to come.

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.