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.
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“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…
When my acute hepatic porphyria (AHP) diagnosis was still fresh, my missing enzyme was to blame for everything going wrong. I didn’t yet know the timeline of my treatments, or how symptoms would ultimately impact my plans. My heart was an anvil, an impossibly heavy chunk…
Navigating the world of porphyria is a journey filled with learning, resilience, and the collective wisdom of countless patients and families who’ve walked this path before. My journey into the world of porphyria didn’t begin in a doctor’s office, but rather through the experiences of my son Brady,…
My brother, Jake, has acute intermittent porphyria (AIP). But he’s in denial. “Doesn’t everyone’s stomach hurt when they miss a meal?” he asked me one day over the phone. No. Another time he admitted feeling frequent bouts of nausea. “It’s the worst at night. I always thought it was…
My urine turns a reddish shade of purple when I’m sick. It resembles pomegranate juice, lightly staining the toilet bowl with a ring of fuchsia. This is a symptom unique to acute intermittent porphyria (AIP). The word “porphyria” is even derived from the ancient Greek word…
A few weeks ago, I received Panhematin (hemin for injection) at the infusion center for treatment of my acute hepatic porphyria (AHP), then drove straight to a protest at the Iowa State Capitol in Des Moines. I hooked a rainbow tie-dye face mask behind my ears and…
“Start where you are. Use what you have. Do what you can.” The words of that popular quote, which has several variations, echo a powerful sentiment that resonates especially well within the rare disease community. As we approach Rare Disease Day on Feb. 29, which falls on…
John Manak, PhD, a professor and human genetics disease expert at the University of Iowa, emailed me to ask if I’d speak to his class about living with acute intermittent porphyria (AIP). The class was called “Good Genes Gone Bad.” Little did I know at the time how much…
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