In my column, “Hope in Action,” I write about porphyria and the lived experiences of those affected by this group of ultrarare diseases. But for Rare Disease Day today, I want to take a macro view of rare diseases. According to the National Organization for Rare…
As a porphyria patient advocate, I feel blessed to have the opportunity to talk with patients every day. Some have already been diagnosed, while others are struggling to be heard. More than likely, the person on the other end of the phone has suffered terribly from tremendous pain. Or…
Last week, on Sept. 18–20, the American Academy of Dermatology Association held its annual legislative conference in Washington, D.C., where several hundred dermatologists and patient advocates gathered to discuss healthcare policy issues and advocacy. Then, on Sept. 20–22, the Coalition of Skin Diseases (CSD) held its Hill Day,…
Last week was a big deal in the world of porphyria. Some of the most brilliant minds met at the International Congress on Porphyrins and Porphyrias (ICPP) in Sofia, Bulgaria, to share their knowledge and discuss novel research. With many of the strict COVID-19 limitations lifted, researchers were finally…
Bulgaria. Honestly, until recently, I could barely place the country on a world map. Yet over the past few months, I’ve had the honor of organizing a patient day during this year’s International Congress on Porphyrins and Porphyrias (ICPP), set to take place in Sofia, Bulgaria, Sept. 4–7. Participating…
We recently returned from a college visit for my youngest son, Brady, who lives with erythropoietic protoporphyria (EPP), an ultrarare disease characterized by extremely painful phototoxic reactions to sun exposure. I can’t believe we’re already looking at college! Wasn’t I just prepping his kindergarten teacher to help manage…
“National Stay Out of the Sun Day” happened last weekend, on July 3. This awareness day highlights the effects of sun exposure and the need to protect ourselves from them. I was not aware of this day until my savvy fellow columnist, Claire Richmond, clued me in. Any…
Ever since my son Brady was diagnosed with erythropoietic protoporphyria (EPP) in 2009, my greatest hope has been that someday there would be a treatment for this devastating disease. At the time, I didn’t realize how many stars would need to align for this to happen. But now it…
Growing up, I loved playing bingo with both of my grandmas. The large hall held rows of tables filled with players trying their luck. I would eagerly play a couple of cards while each of my grandmas somehow managed to stay on top of dozens of them while simultaneously chatting…
Last weekend, we welcomed the expert physicians and researchers of the Porphyrias Consortium to the United Porphyrias Association‘s home base in Bethesda, Maryland, with the goal of networking and brainstorming about how to move porphyria research and knowledge forward. The event marked the first in-person meeting of this…
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