Acute hepatic porphyria (AHP) symptoms are caused by a specific set of triggers, so early on in my rare disease journey, I used strategic lifestyle adjustments to prevent and predict my attacks. But it wasn’t that easy. The first three years…
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The first time I realized I was rare, a doctor at the Mayo Clinic said he’d never seen a test for acute hepatic porphyria (AHP) come back positive. Mayo Clinic was my last hope, the place I went when no one else could help. A medical resident on my…
When my youngest son, Brady, was diagnosed with erythropoietic protoporphyria (EPP) at age 3, it marked the beginning of a long and challenging journey. It had taken countless doctor appointments and a tremendous amount of persistence just to identify the condition. But as a parent and caregiver, I…
Blaming COVID-19 was convenient the first two times Michael and I canceled our wedding. For me, it was an easier excuse than the truth. In managing acute hepatic porphyria (AHP), the rituals of life fall away. AHP is a rare, unpredictable disease that produces chronic and…
My youngest son’s journey to a diagnosis of erythropoietic protoporphyria (EPP) in 2009 took a long and winding path that’s familiar to most patients grappling with a rare disease. Yet one distinctive factor compounded this challenge: EPP symptoms are largely invisible to someone unfamiliar with this…
I don’t always know how my body feels upon waking. After acute porphyria symptoms went undiagnosed for years, I grew adept at dissociating from my pain. It’s how I survived. However, one recent morning in Jackson, Wyoming, my body needed no introduction. Like the G-force of an…
The first thing I wanted to do after I learned I had acute hepatic porphyria (AHP) was to find my people. I received my diagnosis at the Mayo Clinic in Rochester, Minnesota, a few hours from my house. I knew my doctors couldn’t name names of other…
“Let’s do the 108 Sun Salutations class on Wednesday morning!” my dear friend Nancie texted me. The special class was scheduled for the day of the summer solstice. My initial reaction was to wonder if she really knew me. After all, I’ve spent a significant part of my personal and…
Michael pulled on a soft green shirt, its fabric thinning and stained with splatters of white paint. It’s part of his “get stuff done” outfit, symbolizing his intentions to get started on the yardwork. I appreciate my partner’s drive for projects, especially the ones I identify and he executes. Last…
I used to be a distance runner. More accurately, I used to be a runner of a very defined distance. For years, I tried completing marathon training schedules, only to top off at about 16 or 17 miles. I could build endurance and strength, but I always seemed to…
Recent Posts
- Disappointed by the FDA’s ruling on an investigational EPP treatment
- The importance of being able to explain our porphyria symptoms
- Unexplained abdominal pain and low sodium reveal AHP diagnosis
- FDA denies accelerated approval of bitopertin, awaits trial results
- Mouse study: Genes, diet may shape risk for common porphyria
- Claw-like hands revealed hidden nerve damage in woman with AIP
- Being a blessed porphyria warrior is about more than just a slogan
- New EPP drug candidates hard to compare with Scenesse, analysis finds
- New trial results show bitopertin eases a major driver of EPP symptoms