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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…

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…

In recent years, I’ve overhauled my idea of goal setting. A few years ago, I sat down one January to write my New Year’s resolutions in the midst of having acute porphyria attacks and filling out long-term disability applications. My pen hovered, frozen above the page. Uncertainty is stressful.

Givlaari (givosiran) is the most exciting development in the acute hepatic porphyria (AHP) community since Panhematin (hemin for injection) was approved under the U.S. Orphan Drug Act in 1984. I started treatment earlier this year, and I’m now five months in. When I reflect on my experience with…

The holidays are a tricky time for people living with chronic illnesses like acute hepatic porphyria (AHP). My body doesn’t do well with added stress and anxiety. I spent Thanksgiving in an acute attack, and didn’t handle it well. I sat down for meals with both sides of the…