My ‘Fibromyalgia’ Turned Out to Be a Rare Disease

At 16, I drove my 1992 Honda Accord to my biannual rheumatology appointment. In the lobby, I waited among older patients, who were accompanied by their middle-aged spouses or adult children. Flipping through a three-month-old issue of Reader’s Digest, I felt mildly self-conscious about my nonorthopedic sneakers and cranberry-colored spiky hair.

Two years prior, I had been diagnosed with fibromyalgia after a battery of tests failed to explain my nerve pain, muscle weakness, and insomnia. When deep, relentless aches in my upper and lower back began, I went straight to a chiropractor, but it only seemed to make matters worse. Pain persisted and increased in severity, spreading to my limbs and taking a massive bite out of my social life.

I was 14 years old and had to stop dancing. Ballet and modern dance were the only extracurricular activities I participated in because I was bookish and painfully shy. At this point in my life, I became most comfortable sequestered in bed on a heating pad, playing Donkey Kong Country and relating deeply to the angst of Tori Amos’ “Boys for Pele.”

What can I say? It was a confusing, transitional time in my life.

Being labeled with fibromyalgia

I remember the day I received a fibromyalgia diagnosis. I was probably wearing knockoff JNCO jeans and Vans for fashion, because I’d skateboarded approximately zero times in my life. I listened as my doctor analyzed my completely normal MRI results, and I desperately willed him to explain how I had gone from being a kid who could hop on a bicycle with her friends, to a teen who was bedridden in severe pain.

Maybe it was my defiant adolescent outlook and general “me against the world” attitude, but I distinctly remember a patronizing weight to the specialist’s words. Heavy with doubt, he explained that no blood test or genetic marker existed for the condition. Yet, he was comfortable enough writing it down in my chart for all eternity.

As much as I felt blown off, I was equally relieved that my provider was willing to treat my pain. And to be fair, he never outwardly doubted my symptoms. That situation is sadly all too common, especially for young women and people of color.

It is also worth noting that the hallmark acute hepatic porphyria (AHP) symptoms that plagued my young life were severe, yet sporadic. I never considered mentioning the debilitating abdominal pain or nausea that hit shortly before each menstrual cycle, because in my mind, those topics of conversation were more appropriate for my obstetrician-gynecologist. It’s possible that knowledge of these symptoms could have helped my provider connect the porphyria dots early on. Seemingly disconnected symptoms are commonly to blame for a delayed AHP diagnosis.

Escaping a mysterious illness stigma

Even at a young age, it was horrifyingly simple to get prescriptions for muscle relaxants and sleeping aids. However, I couldn’t escape the self-judgment of being too young to vote, but unable to sleep on my own.

When I went to college, I refused to be a person with chronic illness. I swore off my diagnosis altogether, suffering acute symptoms in secret after a night of drinking caused a flare.

I masked my chronic, fibromyalgia-like symptoms with a cocktail of supplements, a side of physical therapy, and a strong dose of denial. I lived this way into my 30s, when acute attacks required ambulatory care and became impossible to ignore.

Nineteen years after my initial symptoms and 13 years after writing off fibromyalgia, I received my AHP diagnosis in 2017, at age 33. I’ll never forget the blindingly bright lightbulb moment I had when I realized my fibromyalgia symptoms had always been chronic porphyria.

In “The Lady’s Handbook for Her Mysterious Illness: A Memoir,” Sarah Ramey writes about the very real epidemic of undiagnosed women’s health issues in our society, specifically chronic pain and digestive disorders. While acknowledging that it’s demeaning and dismissive, her research and lived experience uncovered that fibromyalgia is often “code for crazy” in medical circles.

Knowing that countless people, many of them women, continue to roam the earth in pain and search for a diagnosis, I feel incredibly fortunate to have received mine. Like me, they may be met with medical gaslighting and implicit bias. Like me, they may have cut ties with their bodies or lost the confidence to communicate the difficulty of their day-to-day lives. My heart breaks for them.

It’s possible that many undiagnosed people live with a rare disease like AHP. They are the No. 1 reason I write and share my story.

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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.