Guest guest Posted October 20, 2003 Report Share Posted October 20, 2003 Adam, This may or may not help you. The doctor who actually diagnosised my sister and eventually me and my son, first ordered a genetic blood test. Only two months later when she went into a coma and needed the experimental DCA did they do a muscle biopsy. This was back in 1996. If your insurance will pay for it I believe the genetic blood test may be the way to go. For us, they sent the blood out to California. If they do not know what mutation they are looking for it can be expensive. I do not know exactly how much my sisters testing was. The doctor did have a general idea though that it was melas or merff based on his experience. When my son kept having constipation problems last year, after consulting a so called expert at uw madison we went to Milwaukee to Dr Tick. At this point I suspected the melas and put my son on the qgel--he is fine except when he forgets to take it for a couple of days. Anyway, we paid for the testing ourselves to keep it out of his records. The one test was $500. Before I was tested the doctor told me that the positive test result can be good and bad. The carnitor can be by prescription saving a lot of money. It will also be a name for a lot of unexplained symptoms thru the years. But, you will be turned down for life insurance. Well, that is all from me for now. Janet Sample New to the list... Hi,I have been following the list because although I have been ill for some time, I have only recently been investigating mitochondrial disorders.I am in a severe "crash". With a lot of muscle pain, weakness, headache, and breathing/talking difficulty. I have been recently seen by a specialist in metabolic disorders who ordered a lot of blood tests. So far nothing is coming back abnormal. I am still waiting for a few results. In reading this list, I am finding so much about the posts that sound just like what I am going through. This specialist did tell me about muscle biopsies, but also said I would need a "fresh" one, and have to travel to Georgia for one. I am in New England.Since my blood work is coming back normal, [so far the only abnormality was my amino acids were low in the urine, but normal in the blood], I am wondering if I should be pushing to have the muscle biopsy. If I have one, will that settle the question once and for all, whether I have a mito disorder or not?Any other suggestions for diagnosing the problem?Thanks,AdamMedical advice, information, opinions, data and statements contained herein are not necessarily those of the list moderators. The author of this e mail is entirely responsible for its content. List members are reminded of their responsibility to evaluate the content of the postings and consult with their physicians regarding changes in their own treatment.Personal attacks are not permitted on the list and anyone who sends one is automatically moderated or removed depending on the severity of the attack. Quote Link to comment Share on other sites More sharing options...
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