Disclaimer: The opinions in this column are my own. The decision to have children is deeply personal and isn’t universally right or wrong. I am 38 and choose not to have babies because of a burdensome rare disease. I’ve decided not to risk the 50% chance of passing on a…
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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…
When it comes to treating porphyria symptoms, there are more options than prescription medication alone. Just about every patient I know who’s managed an active disease state for any length of time has a recipe of wellness-based and self-help practices to cope with pain and stress. Mine includes daily…
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…
All types of porphyria share a hallmark symptom: horrific pain. For many of us, our illness is largely invisible. For some of us, it becomes a nearly insurmountable obstacle that dictates our lives. While I would never wish porphyria on another human, I frequently find myself wanting my loved…
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…
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How I Avoid the ‘Sick Olympics’
Acute hepatic porphyria (AHP) is a complex rare disease that takes up a lot of brain space. Nothing is more exciting than when I can tell someone who actually understands it about how it feels, acts, and responds. Venting and story sharing are one thing. Living in perpetual…
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…
My acute hepatic porphyria (AHP) diagnosis was a whirlwind that transformed my life and the lives of my loved ones. It took a series of dramatic attacks for doctors to take me seriously. Sadly, this is not uncommon for people with AHP. After nearly two decades searching for answers, I…
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%…
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