How a random book led to a porphyria diagnosis that saved my sister’s life
We were able to pursue testing and eventually start treatment
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“Princesses Behaving Badly: Real Stories from History Without the Fairy-Tale Endings” by Linda Rodriguez McRobbie is a pop culture history book. It isn’t a medical or scientific book. So how on earth could it save my sister’s life?
The book is about the lives of women throughout history who were often anything but well behaved. I picked it up to read in my free time a few years ago. When I wasn’t thinking about doctors, diagnoses, or trying to find answers for my sister’s very quickly deteriorating physical and mental health, I needed something light to read. Though we didn’t know they were porphyria attacks at the time, my sister, Mimi, was experiencing episodes that could paralyze almost her entire body, from her legs to her chest. She had lost the ability to walk, and there were terrifying moments when she couldn’t breathe.
Both my sister and I had been diagnosed with Ehlers-Danlos syndrome and other comorbid conditions as kids, so as her symptoms worsened, doctors were chalking them up to conditions we’d been diagnosed with for years. But no treatments were working. We had no idea what was happening to her, and she was getting worse. She was even experiencing significant mental and neurological changes, and her doctors didn’t have any answers.
But “Princesses Behaving Badly” mentioned porphyria. It has a chapter on a descendant of King George III who was “misbehaved” but probably also had the mental changes that can often be a symptom of porphyria. It described how porphyria is a painful condition that could also cause mental health deterioration. This immediately made me curious.
What was porphyria? I thought. A disease that could cause both physical and neurological symptoms? How had I never heard of this? I immediately put the book down and began researching further, and what I found were answers for not just my sister, but for both of us.
Paralysis. Tachycardia. Mental changes. Severe abdominal pain. And much, much more. This book had provided the missing puzzle piece!
I also began looking back on many of my unexplained symptoms, thinking about my own bouts of severe abdominal pain that had sent me to the emergency room, but seemingly had no known cause. I’d leave the ER without answers. Eventually, the pain became so persistent that my gallbladder was removed as a last resort, but that didn’t remove the problem.
None of our doctors had mentioned porphyria until we brought it up, even though it seemed like both my sister and I had many of the hallmark symptoms. I wonder and worry about what would have happened to my sister, with her respiratory paralysis and her deteriorating mental state and memory, if this pop culture book hadn’t provided the answer.
This explanation brought Mimi back and ultimately saved both of our lives. We were able to pursue testing and eventually start the treatment we had been desperately looking for.
If a book off the shelf can catch what medical specialists missed, what does that say about awareness gaps in medicine? I suspect we never would have heard of porphyria if I hadn’t happened to read this random book.
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.
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