Sometimes in patient advocacy, a great event means planning everything down to the minute: logistics, panel preparations, seating charts, and more. At other times, I find myself backstage with seven teenagers and wonder, “What was I thinking?” Last month, something truly special happened in Boston. A group of extraordinary young…
The United Porphyrias Association (UPA), where I serve as president, recently asked our community to do something more raw and vulnerable than ever before. For Global Porphyria Day on May 18, we asked: “What does porphyria pain feel like?” And you answered. Goodness, did you answer. It wrenched…
Sometimes hope feels heavy. In the past several months, the porphyria community lost several beautiful souls. They were different in age, type of porphyria, and geography, but all were taken too soon. As I sit at my desk at the United Porphyrias Association office (where I serve…
Everyone seems so very excited for spring. The birds are chirping, tree buds are sprouting, and the sun hangs hotter and higher in the sky for longer stretches each day. Well, almost everyone. Right on cue, this is when Shadow Jumpers — as we lovingly call our people living…
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…
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…
As Thanksgiving approaches, I find myself reflecting on the concept of gratitude — not the surface-level kind we often recite out of habit, but the kind born out of adversity. Living with porphyria, or loving someone who does, can feel like navigating a storm. Yet it’s in the storm…
I recently had the honor of attending the National Organization for Rare Disorders (NORD) Breakthrough Summit in Washington, D.C., on behalf of the United Porphyrias Association (UPA). The annual Rare Diseases and Organ Products summit brings together advocates, patients, researchers, and healthcare professionals from the rare disease community to…
When we came together for PorphyriaPalooza in Chicago, Sept. 13-15, we knew we were onto something special. More than 100 of us, spanning the ages of 7 to 70 and representing 26 states and three continents, gathered to celebrate our porphyria community. The event was organized by the…
Pain is a complex and deeply personal experience that defies easy descriptions. It binds us all in a shared human condition. For those living with porphyria, pain isn’t just a symptom; it’s an overwhelming and often misunderstood aspect of daily life. I’ve watched my youngest son struggle with…
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