My porphyria diagnosis began with mood swings, pain, and nausea

I love you. I can’t stand you. Please don’t leave. I just want to be alone!

These conflicting emotions all happened within a matter of minutes. That was red flag No. 2. Severe abdominal pain with nausea and vomiting were red flag No. 1. As an in-home caregiver from western North Carolina, I’d always been a goofy, loving, and caring person. This change just wasn’t me.

The pain on the right side of my body, just under my rib cage, was dull at first, then kind of sharp. It would come and go. For the first month or so, it was noticeable but tolerable. Then it started getting worse. I was always overly sensitive to pain, so it didn’t take much to persuade me to seek medical attention.

I was also nauseous all the time and would throw up almost every time I ate, and sometimes more.

Initially, my primary care provider prescribed fluoxetine (best known by the brand name Prozac) for my mood swings and a stool softener for the constipation. Thankfully, my mood stabilized significantly, but my stomach pain, nausea, and vomiting were far from resolved.

In fact, they got much worse. I was doubled over in pain on a regular basis and couldn’t keep any food down. CT scans and ultrasounds came back normal for my gallbladder, appendix, and ovaries. Finally, early one morning, it dawned on me. I got on Google and typed, “What are the symptoms of porphyria?”

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The Mayo Clinic’s website had an answer: “Severe pain in the belly, chest, legs or back. Digestive problems, such as constipation, nausea and vomiting. Muscle pain, tingling, numbness, weakness or paralysis. Red or brown urine. Mental changes, such as anxiety, hallucinations or mental confusion. Rapid or irregular heartbeats you can feel, called palpitations. Breathing problems. High blood pressure. Seizures.”

Well, there it was. I was experiencing almost every symptom except for seizures and high blood pressure. But as my acute intermittent porphyria (AIP) worsened, I experienced both of those, too.

Porphyria News explains that porphyria gets its name from the change in color of urine during an attack. “Porphura” is an ancient Greek word that means “purple.” With porphyria, the urine can turn purple, red, or brown.

As I noted in a book I wrote about the disease titled “I’m Not Always Me: Living with Porphyria,” my body was going to war against itself, and I was its battleground. I had to find answers immediately. I went to the emergency room and explained to the doctor that I thought I had porphyria. Unfortunately, that hospital didn’t have the resources to test for porphyria, so the doctor referred me to my primary care provider.

Blood, urine, and stool tests, as well as genetic testing, can be used to diagnose porphyria. In my experience, a urine sample was wrapped in aluminum foil to protect it from the light because, according to my understanding, if the specimen is exposed to light, the test will be ruined. While it may seem comical, it’s not an easy task.

I remember when the doctor called to tell me I had porphyria. I was on my way to work. I’d suspected that I had it, so the news wasn’t shocking. What I didn’t anticipate was the devastating impact it would have on my life. By the age of 29, I had my fallopian tubes removed, I had a full hysterectomy, I went through menopause, I was paralyzed for hours, I was hospitalized over 20 times within two years, and I was put on disability. Porphyria changed my life, but I wouldn’t be who I am today if it weren’t for AIP.

As former Porphyria News columnist and patient Claire Richmond wrote in a column titled “What I wish I’d known when I was diagnosed with acute porphyria,” it takes 15 years on average to be diagnosed with acute hepatic porphyria. While it’s unfortunate, porphyria runs in my family on my mom’s side, so I was able to suggest the disease as a possibility shortly after my symptoms began in July 2020.

I was officially diagnosed with AIP in October 2020 at the age of 25. It’s now my goal to spread the word about porphyria because everyone deserves to be diagnosed as quickly as I was, if not faster.

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.