How a rare disease called porphyria forced me to reinvent myself

I stood in front of the bathroom mirror long enough to see the pair of eyes peering back at me, and they looked exhausted. After nearly two weeks in the hospital with horrific pain, a paralyzed digestive tract, and mysterious autonomic dysfunction, my body was deflated.

Translucent skin stretched over my collarbones and shoulders like plastic wrap. My distended abdomen displayed polka-dot bruises from heparin shots. In the reflective glass, my face appeared ruddy and rough. Deep lavender shadows hovered below my eyes, as if I’d aged a decade just lying in the hospital bed. Yet I still had no answers about why this happens to me.

After 19 years of living with pain and digestive issues, strange behaviors become normalized — like spending nights spooning my toilet or reading books into the early morning hours because sleep never came. When I was diagnosed with acute hepatic porphyria (AHP), the chronic nausea and insomnia finally made sense. Everything clicked into place. But I didn’t yet know how much the disease would dramatically alter my life.

Back in the bathroom, I sat on the toilet lid and struggled to pull socks over my ankles. My movements were sluggish, as if I were performing them through a viscous liquid. But I wasn’t in a hurry — I’d lost my job. I received that call days earlier while still in a hospital gown.

I was accustomed to starting my day off with a run, but my gait was a dragging hobble that barely made it to the living room couch.

I relish in structured, hour-by-hour expectations, and now I had nothing that needed to be done.

Recommended Reading

January 3, 2024 News by Andrea Lobo, PhD

Top 10 porphyria stories of 2023

Claire the artist

Determined to mask the shame of professional failure, I began designing greeting cards. I opened an Etsy shop and an Instagram business account. Claire, the running coach who could no longer run, was providing athletes with notes of encouragement for their races. This first reinvention was a coping mechanism that was met with applause from the social media world.

At that point, healthcare providers assured me the acute attacks wouldn’t persist, and I wouldn’t even need medication. But the uncertainty I faced was blinding, so I turned toward my business.

Claire the office worker

Months later, when I’d regained strength, I started a new job because I needed health insurance. I thrived on the daily schedule, using free time to learn about my disease. I spent a summer vacation visiting a porphyria specialist in Salt Lake City, Utah, and took lunch breaks to coordinate my local care.

Once a month, I was admitted to the oncology floor of the hospital for a long weekend of Panhematin infusions (hemin for injection). But my attacks weren’t always on the weekends. My new routine quickly became unsustainable.

On a gray, midwinter day in 2019, I lost that job as well. Looking back, I’m glad it happened the way it did, because I sure wasn’t ready to admit that I couldn’t manage my health and work full time. I collapsed into exhaustion that lasted for weeks. When I emerged, crocus leaves were pushing up through the snow. That’s when I began to write.

Claire the advocate

In 2020, the cancer center where I receive my AHP care offered an eight-week virtual mindfulness and meditation class for current and former patients. Slowly, I turned toward the pain in my body. Rather than lessening the discomfort, it helped me learn to find the space to accept it. I began to embrace stillness, use technology less, and sink my hands into the backyard soil. I brewed herbal tea and sat outside with my journal, watching bees float between coneflowers and calamint blooms. My family rescued a 2-year-old poodle who became my constant companion.

I’d given up my evening glass of wine, community leadership positions, and professional responsibilities, and watched as my relationships shifted. Friends drifted away, but those who stayed grew closer and showed up for me in new ways. Through writing and rare disease advocacy, I met people all over the world with AHP and other chronic conditions. I volunteered with the American Porphyria Foundation and started an online book club. I joined local meditation groups and formed a monthly writing circle.

Few people drastically transform their lives unless circumstance requires them to do so. In recent months, I’ve been grateful that a series of transitions have given me the opportunity to reinvent myself. I never would’ve said I wanted to be a rare disease advocate when I grew up, but here I am.

Note: Porphyria News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Porphyria News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to porphyria.