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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3 Replies:

  • Hi.Have they looked at the possibilities of acute disseminated encephalomyelitishttp://www.ninds.nih.gov/disorders/acute_encephalomyelitis/acute_encephalomyelitis.htmhttp://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitisor Devic's disease?http://www.myelitis.org/devics_disease.htmhttp://www.mayoclinic.org/devics-disease/about-devics.htmlHave you had a lumbar puncture?Also do you use artificial sweeteners like Equal,nutrasweet etc?
    Anonymous 42789 Replies Flag this Response
  • Yes I had a lumbar punch, it appeared normal. And I do not use artificial sweetners. I will ask my neuro about these. They will do a dna porphyria test but it is 2000.00 and I hate to spend money like that being on disability. I wonder if it is worth it. Oh and I have had 24 hour urine test, not 24 urine tests. Just read my posting and went oops.
    saslater 1 Replies Flag this Response
  • The first thing I have to ask, is did they find out what your father passed away from? Also, there are a lot of porphyria groups out there where people share info about this disease. I joined one called Southern California Porphyria group with yahoo....My daughter did do the DNA test, and unless you have prior labs that definitively prove that you have porphyria, it is really hit and miss whether you will find it with this....We found this out after doing the test. It came out negative, but that does not mean she does not have it. Porphyria is a very hard disease to diagnose, and unfortunately most doctors do not have a clue as to even what tests to do, or how to do them. My daughter did the 24 hour urine test 4 times, and it kept coming up that it had been exposed to light....Kaiser was giving us the wrong bottle, an orange one that, while it looked opaque, does let some light in. I had to find this out, they had no clue. I have had to do the research. I have been told by three doctors that I know more about it then they do. One person in the group had ten 24 hour urine tests done before she got any results....Another problem is getting the doctor to order the right tests, and hope that they are done correctly. Even if they are done correctly, however, you do not always get a positive result, even if you have it. Check out the American Porphyria Foundation website too if you have not already done so. I wish you luck....we are still trying to figure out what is wrong with my daughter.
    Anonymous 42789 Replies Flag this Response
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