Columns

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…

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%…

Every February, my inbox fills with information about Rare Disease Day webinars, forums, and promotions. On social media, patients and caregivers raise awareness through campaigns such as #ShowYourStripes or #ShareYourRare. In Washington, D.C., advocates from around the country gather virtually and in-person to ask their members of Congress for…

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…

I’m a huge fan of mornings. They once stood for solid productivity. Before reporting to the office at 8 a.m., I’d have a three-mile run, meal preparation, personal email, and news headlines all checked off my list. These days I stay in bed, often until 9 or 10 a.m. Still,…

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…

There is a general lack of understanding and awareness when it comes to pain associated with acute porphyria attacks. Porphyria pain is not well defined in research. It’s misunderstood by doctors and industry professionals, and it’s easy to see why. Pain cannot be objectively measured or seen, and…