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Porphyria

OK wow. Had the weirdest phone call ever from my mom this morning. Honey...you need to put a urine sample out in the sun. I think you have Porphyria. OK. Story is she watches Mystery Diagnosis, and I have been chronically and critically ill for years. Have been diagnosed with a myriad of stuff...Fibromyalgia..."Looks like Lupus"...Rheumatoid Arthritis...maybe Scleroderma...possibly a hereditary disorder like MD. Inflammation markers sometimes up ,and elevated platelets occasionally, have had myelocytes and metamyelocites in bloodstream before, slightly elevated liver enzymes and protien in urine. Tests are almost always abnormal but inconclusive. I get rapid heart rate and have recently been stuggling with dire abdominal pain and vomiting no appetite and dramatic weight loss 40 pounds and have been to the ER three times in 2 months with no acute labs...treated...streeted...hydrated doped up and sent home. I have ringing in my ears. Numb feet and very weak muscles, now am dizzy and often sleep for many hours into the day. At times all I can do is get up and get dressed before I need to lie down again. Well...sometimes I travel with my folks and my mom had occasion to find a pair of forgotton panties that had been exposed to the sun. I have had constant vomiting so have at times leaked a little. WELL white panties were stained purple...oddly enough...I had found a purple stained pair too. No Idea where the purple came from. Well she saw a show on Porphyria. She is certain this is what is going on. How does one approach a Doctor with such a weird story? Just thinking maybe I need some really serious medical help.
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1530171 tn?1448129593
It requires genetic testing and it still does not explain or help with anything.
There's inherited PREDISPOSITION to Porphyria, as any one of the 8 enzymes needed for the synthesis of heme, may be deficient.

"However, the enzyme deficiencies alone do not produce disease. Additional factors determine whether or not there will be disease manifestations."
Source: American Porphygia Foundation

The other type is acquired, mainly due to deficiencies developed in various
biochemical and metabolic pathways of enzymic activity for heme synthesis, rendering precursors of  heme, unsynthesized in the body, thus offering  the possibility of triggering Porphyria symptoms, but only with the presence of additional factors, as stated previously.

So any genetic testing, may NOT be conclusive due to the lack of exclusivity.

Please refer to my earlier post for further insight.

A return to balance in the body, mind, psyche and spirit,
IS the ultimate treatment.
Blessings,
Niko

Helpful - 0
2792668 tn?1340126001
Maybe this is possibly what I have, I have never heard of it.  How do I learn about this?
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Avatar universal
MEDICAL PROFESSIONAL
Hi,
How are you? Porphyria is a term that refers to a group of disorders affecting the nervous system or skin, or both. Each type of porphyria is due to the deficiency of one of the enzymes needed to make heme, which is very important in the body. Indeed, it would not be easy to diagnose especially if the  family history of your birth parents are not known. Most porphyrias are inherited disorders, so it is best that you have your daughter tested as well. There are many triggers for porphyria and you should also avoid your triggers. Diagnosis with blood, urine, and stool tests are done. But interpreting test results can be complex, and initial tests may be followed by further testing to confirm the diagnosis. Take care and do keep us posted.
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Avatar universal
Thank you for answer. Watched show. Was a shock. He told my story. Except have been seeing doctors for 11 years. Teen daughter has weird disconnected symptoms too. Think we both need genetic testing. With "all my health problems" I am on a dozen meds...SCARY. I am adopted so don't know history,I am in the NW and Ultraviolet light is HARD to come by...just ask me about Vitamin D. Maybe we will have some good sun tomorrow. We are supposed too. Not sure if I am in acute phase or not.  So we will see. The purple panties are telling.
Helpful - 0
Avatar universal
I saw that show too. It is an inherited disease - has anyone in your family had it?
I would follow through, do the test, and then follow through with the genetic testing etc. There are specialists in the disease that you can contact.
Helpful - 0
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