Guest guest Posted January 6, 2004 Report Share Posted January 6, 2004 Anne- You are definitely going in the right direction. Dr. Shoffner is supposed to be one of the best. I have a friend whose daughter has been to them-we should go, but unfortunately the pocketbook can not afford it-and our insurance refuses to cover it-long story-but I am tired of fighting. Our doc here feels that is it looks like a duck and walks like a duck-well you all know. Best of luck with the testing. Not to scare you, but I do know that the biopsy can be fairly painful-just to let you know. Keep us updated on how the visit goes. Becky in IN-mom to Maddie-age 7.5-IgA def, gerd, asthma, mild cp, suspected mitochondrial disorder Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 22, 2007 Report Share Posted July 22, 2007 Hi - The " gold standard " for mitochondrial disease testing (if you don't have the more " common " types that have been identified in the blood through genetic testing) is a live fresh muscle biopsy. The best place to have it done is by Dr. Shoffner in Atlanta. His lab is called Horizon Molecular Medicine. If you'd like to findout more about mitochondrial disease and testing, please visit www.mitoaction.org or www.umdf.org. I hope that helps, Anne R (igA def., specific antibody deficiency) mom of Sam (11, IgA def.?) and Asher (Mitochondrial Disease , Complex III defect, partial Complex I) Mitochondrial Testing I believe-but I could be wrong as Maddie was tested several years ago-the only definitive testing is a live fresh muscle biopsy-and when Maddie was tested several years ago there were only two or three places in the US that could do this testing. She had several things show up in her blood work-but we could not justify to our insurance at the time for the testing-and as it would not have truly changed any treatment that we give her-we opted not to pursue it any further. I have a friend who has a daughter with severe mito and I know that they had to go somewhere in Georgia to get the testing done- Becky in Indiana-mom to Maddie-age 11-IgA def, low IgG, IgG subclass 2 & 3 def, gerd, asthma, peptic ulcers, mild cerebral palsy........ Quote Link to comment Share on other sites More sharing options...
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