One night last week, the late-afternoon spring air hinted of summer, warm enough for me to imagine sitting on a patio with a mocktail. So my partner, Michael, and I layered on active gear, pumped up tires, and fastened our helmets. One of the great joys in our relationship…
Self-help writer Eckhart Tolle once shared his belief that “awareness is the greatest agent for change.” I hope that’ll be the case as the porphyria community prepares to celebrate its annual awareness initiative on April 19. We have many stories to tell about living with or caring…
Acute hepatic porphyria is characterized by episodes of intense pain and fatigue, and then windows of feeling decent. In the six short years I’ve managed the disease, I’ve noticed that my symptoms come in cycles. I’m currently in a period characterized by prolonged stretches of fatigue. I’ll remember…
I knew I was in rough shape when I opened my eyes to total darkness. My midday nap had bled solidly into the evening. It was the Monday after a weekend spent in Chicago, a five-hour drive away. My partner perched at the foot of the bed, a look…
In my column, “Hope in Action,” I write about porphyria and the lived experiences of those affected by this group of ultrarare diseases. But for Rare Disease Day today, I want to take a macro view of rare diseases. According to the National Organization for Rare…
Rare diseases are tough to diagnose. But when it comes to acute hepatic porphyria (AHP), diagnosis is on a whole other level. On average, it takes 15 years to receive an AHP diagnosis. This can be due to myriad reasons, including challenges with awareness and identification,…
As a porphyria patient advocate, I feel blessed to have the opportunity to talk with patients every day. Some have already been diagnosed, while others are struggling to be heard. More than likely, the person on the other end of the phone has suffered terribly from tremendous pain. Or…
The emergency room was busier than I’d ever seen it, and due to severe acute porphyria attacks, I’ve been in that waiting room many times. I couldn’t get comfortable in the hospital-commissioned wheelchair, no matter how I shifted my body. And there were no other places to sit. I…
I live with acute hepatic porphyria (AHP), an inherited metabolic disorder that affects my liver function and my day-to-day life. By the time I got diagnosed with AHP six years ago, everyone in my life knew something was going on. At that point, thanks to a seven-month…
It was warm on an early December afternoon, and the sand on the Florida Panhandle beach was white and so fine it sifted through my toes like flour. I was at the shore with a friend who, like me, lives with acute hepatic porphyria (AHP). While I speak with…
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