Discussions By Condition: I cannot get a diagnosis.

porphyria?

Posted In: I cannot get a diagnosis. 3 Replies
  • Posted By: saslater
  • June 12, 2009
  • 06:17 PM

To make this short. In my 20's I suffered from a lot of stomach pain. They finally took out my appendix and though it was healthy said I may have had chronic appenxitis. I also suffered from fatigue, they said chronic viral syndrome and anxiety. In my 30's I began with r eye pain, weakness in my extremities and loss of feeling in my legs. Along with pnemonia. MRI showed demyelination lesion on my brain stem. Dr. said Multiple Sclerosis. The steroid treatments almost killed me. I had such bone crushing pain from the taper that it took my almost a year to taper off of the steroids. Years pass and then I go to another Dr because I moved. He said my demyelination in my brain stem now appears to be a mass, nothing for me to worry about as it is not large. And good for me, I do not have MS. Durring this time my father would match me symptom for symptom. Like tripping a lot or falling over, fatigue, confusion and so on. Which does come and go. We were watching a program and porphyria came into the picture. Dad said he was diagnosed with porphyria as a kid, him and his sister and they thought it was only a stomach thing that he would grow out of. So he contacted his Dr and me mine. His Dr. knew nothing about it, had put my Dad on a strict diet, and he died a week later. His goal was to outlive his dad who died in his 50's. Dad made it to 65. So now I went in for urine tests. One Dr said it was abnormal, but another said it was normal. I have had 24 urine tests and they were okay. I had fecal tests they actually showed no porphyrins at all. I see a Neurologist for my neuro symptoms, weakness of extremities, tingling and loss of feeling, numb patches. I went to a gastro guy and he did an upper scope and colonscopy, both okay. And gave me medicine for my nausea and vomiting and heart burn.

My symptoms are getting worse. One Dr. said that when I died is when they will be able to diagnose me. One of my Daughters are showing the same symptoms I did in my 20's. Now what?

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