Guest guest Posted October 11, 2005 Report Share Posted October 11, 2005 Hi, I would like to introduce myself and also ask for some direction from other adults living with Mito. My name is Tammy and I am 34 years old and my two children have been diagnosed with Mito. It was thought that they have a nDNA autosomal recessive defect, however I have had increasing health issues and on a whim the kids doctor did basic Mito labs-pyruvate, lactic acid etc and abnormalities were found indicating my issues may indeed be Mito. Which would mean that we do not have an autosomal recessive inheritance, but either autosomal dominant or mtDNA defect although no specific mutation has been found. They are on the full cocktail-Carnitor, CoEnzymeQ10, Liopic acid, Vit B1, B2, C, E, and Biotin. They have responded to treatment. My question comes with the muscle biopsy and wether to do it or not. I know for the kids fresh is best, etc. My PCP wants me to start the cocktail now, however I would like to do a biopsy first if there is potential information to be gained for me. If it is best to do the biopsy how do you go about getting this done in the adult world. My kids are patients of Dr Natowicz at Cleveland Clinic. They have not had the biopsy done because of multiple positive markers for Mito (they are presumed to have a defect in Oxidative phosphorylation and a secondary fatty acid defect elevations in all chains except medium chains) and our son was on the cocktail when we were sent to Cleveland and no one is willing to stop it for a biopsy. Our daughter was started immediately because she was very sick and her labs indicated Mito. My past medical history is somewhat complicated with CVS (thought to be caused by severe allergies), Chronic sinus infections with multiple surgeries because of polyps and tumors, headaches, asthma, GERD, fatigue, very complicated pregnancies, and most recently tremors, muscle weakness, PAIN and burning in muscles, extreme fatigue, difficulty with focusing vision, and memory 'cloudiness'. Was thought to have myasthenia gravis but blood testing was negative. Any thoughts and suggestions would be appreciated. Tammy --------------------------------- Yahoo! Music Unlimited - Access over 1 million songs. Try it free. Quote Link to comment Share on other sites More sharing options...
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