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Who do I see for porphyria?
Are there any doctors at Mayo Rochester , or in MN, that specialize in Porphyria? I’m lost, as it a rare disease. High urine porphyrins, all symptoms and acute attacks are severe.
To complicate things, I also have have nodal marginal zone lymphoma, sjogrens, pernicious anemia/b12 deficiency and other malabsorption/deficiencies. High kryptopyrroles indicating pyroluria , substantiated by b6 deficiency ( awaiting zinc and copper labs).
I’m not a dr, I can’t continue to find these things on my own at my own expense and once found, I certainly cannot treat.
Can anyone point me to some doctors with specialty these conditions?
I have specialists for Sjögren’s and lymphoma, the rest are positive tests, no official diagnosis and nowhere to turn.
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I have all the reasons that my lifelong incidents and symptoms point to acute porphyria.
The incidents started when I was in my late 20's... My mother had the same symptoms and was never diagnosed.
About four times a year I'm stricken with cold sweat, stomach cramps, nausea and loose bowel movement, simultaneous. Immediately, after, laying on the cool floor helps me restore to some normalcy. Then I am as weak as a kitten. My strength is slowly restored after laying down and napping. With in hours I feel my normal self. The attacks come on suddenly, causing me some embarrasing time. as a precaution I keep plastic bags in my home bathrooms. I have dealt with this for 6 decades and now my daughter is experiencing the first of the symptoms, weakness with the need to lie down till it passes. Can a general Physician get the urine tests and readings that are necessary for diagnosis? Is there anyone who can share their experience. Because of the rareness of proyphyria, physicians have never paid attention except to once calling it a panic attack.
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1 ReactionHi @duaine29 If you haven’t been tested officially for porphyria, your primary care physician would be the first place to start. Porphyria generally is an inherited disorder where the blood is missing some components. So if you remember your mom having these attacks, you’re having then and now your daughter is starting, it would be important for all of you and any siblings or other children to have a genetic test run. From the articles I’ve posted below, once diagnosed there are medications which can be given to help offset the potential events, which sound really debilitating! I’m sorry you’ve had to go through this.
United Porphyrias Association has a good website for patients with porphyria. In the upper right hand side of their main page there’s a resource guide including how to find a specialist.
https://www.porphyria.org/porphyria
Another resource for you:
American Porphyria Foundation: https://porphyriafoundation.org/for-patients/about-porphyria/treatment-options/finding-a-doctor/
Have you had a referral to a hematologist?