Columns

Acute porphyria: When good genes go bad

John Manak, PhD, a professor and human genetics disease expert at the University of Iowa, emailed me to ask if I’d speak to his class about living with acute intermittent porphyria (AIP). The class was called “Good Genes Gone Bad.” Little did I know at the time how much…

Learning to love myself despite chronic porphyria symptoms 

My dog, Lenny, walked alongside me in his red vest, adeptly navigating the display tables heaped with candies. At our neighborhood chocolatier, glistening pink wrappers and crimson hearts had replaced clearanced holiday treats. When we came to the glass case, Lenny patiently settled on his belly while I peered…

When my disability is treated as a secondary condition

I tucked my head against a gust of winter, and followed my partner, Michael, toward a brightly lit bakery teeming with strudel, croissants, and Dutch letters. Inside, I pointed at cookies under a glass case and watched as a woman in an apron delicately placed my selections into a white…

How to prepare for knee surgery with a rare porphyria

Life’s like a pickup basketball game — you never know when a twist or turn might change everything. That’s the lesson we learned a couple of weeks ago with my son Brady, a freshman at Syracuse University who navigates life with erythropoietic protoporphyria (EPP), a rare condition that’s always…

10 gifts to offer medical staff this holiday season

I walked across the Court Avenue bridge into downtown Des Moines, Iowa, accompanied by Michael, my spouse. We were greeted by smells of fresh coffee and breakfast sandwiches. It was late October and one of the last outdoor farmers markets of the year. I bought an apple cider in a…

A look at this year’s International Porphyrias Symposium

I recently returned from The International Porphyrias Symposium 2023 fueled with energy. The conference, held Oct. 26-29 in Bethesda, Maryland, featured a blend of scientific minds and patient experiences. Every handshake and shared story felt like a collective step forward in understanding the group of genetic disorders known as…