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…
There’s a certain magic in watching our children transform as they gain experience and grow older. At 3 years old, my youngest son, Brady, was diagnosed with porphyria. His disease causes debilitating pain when he’s exposed to the sun, which significantly affects his quality of life. This…
Living with erythropoietic protoporphyria (EPP) can be a profoundly isolating experience — not just physically because of porphyria symptoms and the requisite avoidance of sunlight, but emotionally and mentally as well. That’s the often-overlooked psychological landscape that children, like my son, navigate daily because of their chronic conditions.
“Hope in Action,” the name of this column, stems from a motivating quote I heard early in my advocacy. My son Brady had recently been diagnosed with erythropoietic protoporphyria, a rare disease that impairs his ability to tolerate sun exposure. Hungry for information, I attended a seminar at…
Because my son Brady grew up with erythropoietic protoporphyria (EPP), a rare condition that causes extreme sensitivity to sunlight, finding a safe space where he could just be a kid meant everything to me. EPP means that even brief exposure to sunlight can cause severe pain, making typical…
Get regular updates to your inbox.