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Acute Intermittent Porphyria (AIP)
Our daughter, Claire’s, Porphyria journey started in Dec. of 2022 a few days after Claire had her wisdom teeth removed. She had flu-like symptoms (nausea, vomiting, body aches), but she also said that she had a pain in her abdomen that kept her from sleeping. This was all very strange to us as Claire was our child who NEVER got sick. She had evaded Covid, never missed a day of school due to illness, etc. Her symptoms continued for a few days. The oral surgeon’s after-hours nurse recommended Benadryl to sleep and the BRAT diet. After 5 days of no sleep and barely eating, Claire’s symptoms subsided, although she later said she never felt “back to normal.”
Three weeks later, the same symptoms reappeared, and it seemed to have a more severe effect on Claire as she had already lost some weight from her first bout of illness. And the abdominal pain, once again, kept her from sleeping. She dreaded going to bed at night because she knew she would be lying in bed, wide awake, actually thinking that she was going crazy. Claire was a hard-working, straight-A Aerospace engineering student who was the most level-headed 20-year-old. She had brain fog that prevented her from typing a simple email to her professors to explain her absences from class, and she didn’t trust herself to even drive. After a trip to a PA, who diagnosed Claire with gastritis (as well as being anemic, elevated liver levels, and questionable urine levels), she was prescribed Prilosec, and we went to a nutritionist to get recommendations for Claire’s diet. Within a few days, Claire was not able to eat or drink, and we took her to the ER for the first time. She was admitted for dangerously low sodium levels, and she stayed in the hospital for 3 days. A CT scan and ultrasound came up negative, so an endoscopy and colonoscopy were not done. She was diagnosed again with gastritis. At that time, a high school friend of ours, who is an ER doctor, mentioned that if all tests came up negative, there is an extremely rare disease called Porphyria that Claire could get tested for. We mentioned that possibility to 2 GI doctors; all of whom found that to be highly unlikely as none of them had ever had a patient who had been diagnosed with Porphyria. They never ordered the Porphyria test for her, but instead, the most experienced doctor put her on an anti-depressant. So, for the next few weeks, we fed Claire gastro-happy food and hoped that her colon would heal. Ten days later, Claire got a colonoscopy and endoscopy as she still was not feeling back to normal. Both tests came back “normal.”
Two weeks after that, Claire’s symptoms returned even more severely. She could not eat or drink without throwing up, and again, she spent another week with severe abdominal pain that didn’t allow her to sleep. She continued to have brain fog and feel anxiety, fear, and depression. My husband took her to the ER again. She was given another prescription for Prilosec and a sleep aid. The next day, Claire’s pain was getting more severe, and we rushed her to the ER. That was the first time I witnessed her abdominal pain being so severe that she actually passed out in front of me. I ran throughout the ER to find a nurse or doctor who would help Claire. “You are about to have a medical emergency on your hands if you don’t give my daughter morphine!”, I yelled through tears. Unfortunately, that was not the last time I had to aggressively advocate for Claire to get morphine—even after she received her official diagnosis. At that point, her ER doctor said, “I’m just an ER doctor, but this could be Porphyria.” My husband and my ears perked up. “We’ve heard that before!” And the Porphyria test was given to Claire – little did we know that it would take over a week to get the results back. The next 8 days were absolutely dreadful for Claire in the hospital. She was moved from room to room in the middle of the night. She was only given morphine every 8 hours and “extra strength Tylenol” the rest of the time which did nothing for Claire’s pain as Porphyria is neuropathic—affects the nerves—and morphine is the only drug, that we knew of, that gave her any relief.
She felt unheard, lonely, and misunderstood as her nurses seemed to feel that there was nothing wrong with her. During her stay, Claire had a Psych. Eval. and Surgical Eval. THANKFULLY, both doctors felt that Claire’s symptoms did not require psychological or surgical interventions. Claire was 20 years old, so my husband and I were prohibited to stay with her as she was not a minor. It was the longest week of our lives.
After 3 more days of tests with no further understanding of Claire’s condition, we began asking about the results of the Porphyria test, but no one knew its status. My husband found APF’s website later that night, and after reading more about the medical histories and symptoms of people with Porphyria, he called early the next morning and spoke with Desiree on the phone. After that call, we were almost certain it was Porphyria – it was the only diagnosis that explained all of Claire’s experiences over the previous 7 weeks. We kept asking the doctors and nurses to see if they could check on Claire’s test, and finally, 3 days later, Claire called us from the hospital at 6 AM to tell us that another urine test came back and it said, “Diagnosis: Acute Intermittent Porphyria (AIP).”
Although we were extremely happy to get the official diagnosis, over the next few months, we found that we had to advocate for Claire just as hard as we did prior to her diagnosis. She was admitted to the hospital several more times post-diagnosis due to monthly attacks. We were shocked and surprised as to how many nurses and hospitalists had no appreciation for how severe Claire’s attacks were. There were a few more times when we had to aggressively advocate for our daughter, whether it be for a nurse to administer Claire’s morphine at exactly 4-hour intervals (not 4 hour and 10 minutes) or another nurse who refused to call the hospital pharmacy to help her understand why Claire’s hemin was clogging in the IV line. Advocate, Advocate, Advocate.
While we had a few unfortunate experiences with a few ill-equipped nurses and doctors, we had many, many more who saw Claire’s rare disease diagnosis as a time for them to learn and grow as health care professionals. And to those nurses and doctors, we are eternally grateful. They made Claire feel heard and understood. One hospitalist spent a lot of time talking to Claire about taking a medical leave from school so that she could focus on getting healthy…and then return to her Aerospace studies.
In 2024, Claire received her undergraduate degree one semester later than her original plan and is currently a graduate student pursuing her master’s degree in Aerospace engineering. She has an internship at NASA this summer, and her dream is to still help humans get to Mars. We can’t wait to see that dream come true!
