What I wish I’d known when I was diagnosed with acute porphyria

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, and errors in the administration of the biological test. The truly tragic reality of this prolonged journey to find answers is that neurotoxins cause more and more damage with each untreated acute attack. By the time my diagnosis was determined, I was experiencing chronic symptoms, depression, and medical post-traumatic stress disorder from gaslighting in emergency rooms.

For all of those good and valid reasons, porphyria awareness tends to focus on diagnostic issues. But this year, for Rare Disease Day on Feb. 28, I want to guide the conversation toward something different.

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Transitioning to life after an AHP diagnosis

I want to raise awareness about an issue I don’t see discussed as much: what comes after the diagnosis — the day-to-day challenges of navigating a poorly understood, rare, and often chronic disease.

2023 marks six years since my diagnosis. When I initially heard my AHP test came back positive, I was overjoyed and validated. I knew something was wrong. Those 19 years I endured weird, disjointed episodes of symptoms, I really was sick. It wasn’t in my head.

Those of us with AHP are fortunate because there are two medications approved by the U.S. Food and Drug Administration to treat and prevent attacks. (Approximately 95% of rare diseases don’t have any treatments.) When I began treatment, I thought it would address my symptoms and I’d be back to my usual self before long.

After a few months getting Panhematin infusions (hemin for injection) twice a week, I continued on a monthly attack trajectory, seeming to become more and more debilitated. Before long, I made the hard decision of taking medical leave from work. Soon after, I stopped working full time altogether. My days were full of doctor appointments and lying in bed, questioning my worth.

I was depressed. I was in pain. I was overeducated and had student loans to pay back. I had abandonment issues. I was two short years into a relationship with a wonderful, patient man, but he didn’t sign up for this. As much as I didn’t want him to leave me for someone with a working liver, I didn’t want to rely on him in a caregiver capacity, either. What a way to kill the romance!

Living with acute porphyria

There’s no guidebook for young adults who are newly disabled with chronic, rare disease. There’s no research on how we sustain relationships, how many doctor appointments we balance a week, or the ways our mental health is impacted by repeated, debilitating attacks.

The chronic nature of acute porphyria and the effects of enduring severe pain over time is not well understood by doctors, caregivers, or advocates. I often say the most trusted advice I can receive about my disease comes from peers, who navigate these murky AHP waters alongside me.

So I asked some folks in the AHP community what they wished they’d known when they were diagnosed. Here’s what I heard:

“People, for instance employers and friends, are very understanding and accommodating at first, until it starts impacting them. They can go on with their normal lives, but yours will never be normal again.” — Sharon Dill

“I wish there had been a management plan with a healthcare team, instead of just taking things as they came with my doctor. There were no clear expectations on managing the disease, nor a clear path to navigate the potential roadblocks, or even what those might be.” — Nicole Castellano

“Living with porphyria is like living the ‘Groundhog Day’ movie over and over for days or weeks at a time; if I do or try new things I could be subjecting myself to an attack. Knowing this when I was diagnosed would have helped.” — Jennifer Meyer

“Just because I might dress up and look pretty one day doesn’t mean I am not suffering with extreme pain. People judge the way I look and say I don’t look sick.” — Marissa Halsten

“Early on, my pain occurred only with attacks. Menopause stopped the attacks, but not the unrelenting pain. I didn’t understand that I was incurring nerve damage each time I delayed getting treatment and now I live with chronic pain.” — Desiree Lyon

“I didn’t realize AHP would be something I’d have to manage daily, never knowing when I’ll get hit with another flare.” — Maira Martinez

Ultimately, we each have to learn how AHP impacts us. But I hope that raising awareness about what others go through will help those who are newly diagnosed, along with their caregivers, to develop more realistic expectations.

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.