I recently had the honor of attending the National Organization for Rare Disorders (NORD) Breakthrough Summit in Washington, D.C., on behalf of the United Porphyrias Association (UPA). The annual Rare Diseases and Organ Products summit brings together advocates, patients, researchers, and healthcare professionals from the rare disease community to…
Katherine was in her room putting clothes away with her chocolate lab, Bentley, by her side. Before she realized what was happening, she dropped to the floor, scraping her back on the bed on the way down. Bentley quickly came to the rescue by getting onto her lap and licking…
As I shared in my previous column, my husband, Daniel, my mom, and I drove to Chicago last month for PorphyriaPalooza. The event, held Sept. 13-15, was designed to bring together members of the porphyria community. Fifteen hours after starting our journey, we made it…
When we came together for PorphyriaPalooza in Chicago, Sept. 13-15, we knew we were onto something special. More than 100 of us, spanning the ages of 7 to 70 and representing 26 states and three continents, gathered to celebrate our porphyria community. The event was organized by the…
Toothbrush, check. Clothes, check. My book, “I’m Not Always Me,” check. Purple hair, check. Finally, I was ready to go to Chicago for the PorphyriaPalooza! My husband, Daniel, and I had traveled to Michigan from our home in North Carolina in March 2019. Five years ago, Lake Michigan…
Note: This column describes the author’s own experiences with several antidepressants and other mental health medications. Not everyone will have the same response to treatment. Consult your doctor before starting or stopping a therapy. I touched on it in my previous column, but I’d just like to say that…
“You can go with them,” I told my husband, Daniel, as I lay in the hospital bed. “Go where?” he asked. “Out the window,” I responded. Considering we were on one of the top floors of the hospital, Daniel was very confused. Anyone would’ve struggled to grasp what was going…
Pain is a complex and deeply personal experience that defies easy descriptions. It binds us all in a shared human condition. For those living with porphyria, pain isn’t just a symptom; it’s an overwhelming and often misunderstood aspect of daily life. I’ve watched my youngest son struggle with…
This column describes the author’s own experiences with several medicines. Not everyone will have the same response to treatment. Consult your doctor before starting or stopping a therapy. I was 23 and in a relationship with my eventual husband, Daniel. At the time, we weren’t ready to have a baby,…
There’s a certain magic in watching our children transform as they gain experience and grow older. At 3 years old, my youngest son, Brady, was diagnosed with porphyria. His disease causes debilitating pain when he’s exposed to the sun, which significantly affects his quality of life. This…
Get regular updates to your inbox.