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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…
My 16-year-old son Brady agreed to pop on a #PorphyriaTogether T-shirt and pose with Mom for last Friday’s #PurpleForPorphyria global event in honor of Porphyria Awareness Week 2022. I am a happy mom anytime he cozies up to me. The resulting image took my breath away. Staring at me…
Named from the ancient Greek word “porphura,” which means purple, the group of diseases called porphyria often is identified by that same color, according to Scientific American. Today, purple helps to unite members of the porphyria community. This week, you’ll find me gathering my purple gear in anticipation of…
With spring upon us, the birds are singing earlier in the morning. The flowers and trees will soon bud. Our clocks have already “sprung” forward. The air is warm, and the sun shines brighter and longer than it has in months. But for some, the signs of spring…
Rare Disease Day, observed yesterday, involved many awe-inspiring and well-organized virtual events attended by people from all over the world. This annual day of observance generates awareness about some 7,000 known rare diseases and over 300 million people who live with them. According to Global Genes, about 80%…
Rare Disease Day on Feb. 28 is a critical day, although every day is Rare Disease Day when you are living with or caring for someone who has one. The experience is often isolating and lonely, but on this special day, we are all urged to come together as…
As a caregiver and a rare disease advocate, I find seemingly endless opportunities to transform hope into action. It can be overwhelming because I want to have my heart and my hand in all of them! My primary role is a mom to my son, Brady, who lives with…
On a bright day in mid-2009, I covered my son Brady, then 3, from head to toe and tucked him deeply in my arms. We rushed into a new doctor’s office — our potential diagnostic superhero — to discover what was causing my son’s horrific pain. Having been to countless…
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