Patient Comments: Porphyria - Diagnosis

Question:

Describe the events that led to a diagnosis of porphyria. Submit Your Comment

Comment from: Catwoman, 65-74 Female (Patient) Published: August 08

I developed abdominal pain at age 24 and went through innumerable tests to try and diagnose me. I spent a month in a psychiatric ward after drinking a couple of beers one night out with friends. I was sunburned from sunbathing the same day. I then became aware of wandering down a street but I could only see lights. I was involuntarily admitted and my speech was 'nonsensical and bizarre' and I was severely depressed. From there, I was not diagnosed porphyria until 1990s, after many hospitalizations.

Comment from: Sands33, 35-44 Female (Patient) Published: February 04

At 17, I developed an intense ache in my lower legs. For the next 15 years, no one was able to diagnose my small fiber unmyelinated, autonomic neuropathy. I was treated for the pain and the nerve damage, but it never seemed to get better. My pain doctor was getting ready to put a pain pump in me, but I felt something was still missing. I went to see a new neurologist and after routine lab tests and eliminating lead and other toxins, he said, ‘it's probably not this disease, but let's test you for porphyria.' He couldn't even interpret the results. He sent me to a hematologist, who also didn't know what to make of the results. I wasn't going to give up when after all these years, to finally know what was/is wrong with me! I asked to be sent to someone who knows about this disease. I was fortunate to go to a University where this is studied, and given a confirmation of AIP (acute intermittent porphyria). I'm finally going to start my infusions this month. My take away from my experience is that not all doctors finish at the top of their class. And don't give up on your health. If you know something is wrong, be the biggest advocate for yourself, no one else will.

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