Guest guest Posted December 4, 1999 Report Share Posted December 4, 1999 Anne, Hi. May I ask, How is the respiratory chain disorder diagnosed? Would it be with a Mito DNA test? Blood, skin or what else? Thank for you info it's much appreciated. Barbara mom of , 5, Max, 2, reflux, Corbin, probable mito, reflux and asthma Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 6, 1999 Report Share Posted December 6, 1999 Hi Barbara, The kid's respiratory chain defect was diagnosed by fresh muscle biopsy at ish Rite Children's Medical Ctr. Dr. Shoffner did the evaluation and testing. He actually only biopsied one of my children - Zachary. As is actually more symptomatic in many ways, he felt it would be an exercise in science and foolish to biopsy as it is obvious he too has this. So 's diagnosis is actually based on family history and symptoms as well as abnormal lab values. I am not sure if you can test for a RCD from blood - I think I have heard others say you can. though that the best chance of making a diagnosis is through a fresh muscle biopsy though. Anne - mom to Brittany, 12, Zachary, 7, Abigail, 6 and 30 months complex one and four RCD ---------- > > Anne, > Hi. May I ask, How is the respiratory chain disorder diagnosed? > Would it be with a Mito DNA test? Blood, skin or what else? > Thank for you info it's much appreciated. > > Barbara > mom of , 5, Max, 2, reflux, Corbin, probable mito, reflux and > asthma Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 6, 1999 Report Share Posted December 6, 1999 Anne, Thanks so much for the info. ish Rite is in Atlanta, Georgia is that right? I live in the Washington DC area and will be seeing a Dr. Mott in Jan. I'm trying to amass information to use at my visit. My son seems to be developing normally and seems normal overall right now, but has many problems in the past. I want to do everything I can to see to it he has the best care. Thanks Anne. All my best to you and your family. To all out there. Have any of your children been very ill on and off and have abnormal labs and then seem perfectly fine and have labs back to normal? My son has had elevated lactate and pyruvate, low Carnitine, Co2 levels were off. I'm not so sure about the Co2 levels, but I know they weren't normal. And just last week his lactate and ammonia were normal. I should be rejoicing. Why can't I allow my self to do that? If anyone can tell me anything I would really appreciate it. Thanks to all, Barbara Mom of 5, Max 2 1/2, reflux, and Corbin 14mths, probable mito, reflux and asthma Quote Link to comment Share on other sites More sharing options...
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