Why People With Acute Porphyria Should See a Cardiologist

Why People With Acute Porphyria Should See a Cardiologist
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Last month, my primary care physician (PCP) referred me to a cardiologist for suspected postural orthostatic tachycardia syndrome (POTS) after I blacked out (again) on the massage table. According to many testimonies on porphyria message boards, POTS is frequently cited as a comorbidity of acute hepatic porphyria (AHP). I decided it was time to get tested.

Like many with a rare disease, I am leery of new doctors and bring miles of medical documentation along with my referrals. I prepared for an appointment of answering irrelevant questions, defending my symptoms, and scrambling to provide exactly the right backstory to help the specialist connect the dots.

I have a habit of minimizing my symptoms and glossing over my story, both of which are not-so-helpful coping mechanisms carried over from my previous life. I used to hide my chronic pain to protect myself from repeatedly devastating dismissals by specialists, and from hearing yet again that my symptoms are “all in my head.”

So, yes, the thought of seeing a new doctor is enough to send me spinning for weeks. I’ve also been known to postpone appointments and avoid new referrals altogether, for as long as I can.

Inevitably, the dreaded morning of my appointment arrived on a cold day in early December. In the early morning hours, I tossed and turned in restless twilight, before plugging in my headphones and meditating. I bundled up and took the dog on a slow walk. I asked my person for a pep talk. I reminded myself that my PCP knows me well, and I can trust her referral. I checked in for my appointment, doing my best to exhale the blurry brain buzzing of anxiety, and surrender to the process.

It turns out all my worry was for nothing. Not only did my cardiologist know all about AHP, he was sure my case was not POTS.

When my referral came across his desk, he described it as “an open and shut case of POTS.” But then he dug deeper and listened to my patient experience. After learning about my history of severe, prolonged attacks with extreme blood pressure fluctuations and tachycardia, he had a different idea. He was confident AHP was the culprit.

Then he said something new and completely unfamiliar to me: “Every acute porphyria patient should see a cardiologist.”

His words stopped me in my tracks.

I pride myself in being well-versed in my health condition, and it was the first I’ve ever heard this recommendation. Despite setting off monitoring alarms in the ER, my history of blacking out from sitting to standing, and my hummingbird heart rate during severe attacks, no expert, advocate, or fellow patient has suggested I see a cardiologist. AHP is hard on my heart, yet there is a noticeable absence of research on the subject.

After leaving the clinic, I sat in my car in the snowy parking lot and fished my phone out of my handbag. I cranked up the heat and fired off a pair of texts to my closest porphyria friends. My ability to crowdsource with like-minded porphyria friends is far and away my most trusted source of information. Like me, they wish they knew more about how AHP affects their hearts.

I’m currently in the beginning stages of learning: information gathering. As I write this, three electrodes are taped to my chest, with a series of cords snaking their way into the bulky, battery-powered receiver in my pocket. I will wear this heart monitor for 30 days to track my heart rate and identify any irregularities. Next month, I’ll go in for an echocardiogram, which will show the functioning and movement of blood through my heart.

In the meantime, I know my tendency toward low blood pressure and fainting. And thanks to confronting my fear of new doctor situations, I am now a patient of a compassionate and caring specialist who is curious about AHP. Through my extensive experience with specialists all over the country during my 19-year diagnostic odyssey, I value few characteristics higher than curiosity. My new cardiologist gave me a working diagnosis of sinus arrhythmia and labile hypertension, the latter explaining my sudden fluctuations in blood pressure.

While I’m relieved I may not be adding POTS to my collection of diagnoses, I wonder how many others living with AHP endure similar unchecked cardiovascular symptoms. Do you live with AHP and see a cardiologist, or do you have a diagnosis of POTS? Please share your comments below and we can learn from each other!

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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.

Each morning, I make a choice to harness joy, despite navigating pain and day-to-day challenges of living with a rare disease, acute hepatic porphyria. A writer, creator and rare disease advocate, I believe in the power of speaking truth to generate hope and build connections that impact positive change.

I am the Iowa state ambassador for the National Organization for Rare Diseases’ Rare Action Network, serve on the Young Advisory Council of UnityPoint Health Des Moines, volunteer with the American Porphyria Foundation and am co-founder of This Porphyria Life, an online porphyria community for patients and those who love them. I have a Master’s in Public Health from the University of Iowa, and live in Des Moines with my fiance, Michael, and his two children.

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Each morning, I make a choice to harness joy, despite navigating pain and day-to-day challenges of living with a rare disease, acute hepatic porphyria. A writer, creator and rare disease advocate, I believe in the power of speaking truth to generate hope and build connections that impact positive change.

I am the Iowa state ambassador for the National Organization for Rare Diseases’ Rare Action Network, serve on the Young Advisory Council of UnityPoint Health Des Moines, volunteer with the American Porphyria Foundation and am co-founder of This Porphyria Life, an online porphyria community for patients and those who love them. I have a Master’s in Public Health from the University of Iowa, and live in Des Moines with my fiance, Michael, and his two children.

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