Guest guest Posted November 18, 2004 Report Share Posted November 18, 2004 Sonja, You are in the right state! Dr. Schoffner has a great reputation when it comes to diagnosing mitochondrial diseases. He is centered in Atlanta, I believe. I would definatly look into taking Shay there, especially if you are considering a muscle biopsy. My daughter was previously dx'd with a nonspecific mito disease, but was recently found to have the gene mutation for Rett Syndrome. It is still unknown whether she has any mito issus with the RS or not. It is a possibility, since Chelsea has been showing symptoms at a much earlier age and is more phsically impaired than is typical with RS. She also has a shallow rib cage with a significant flair at the bottom. This developed very early on, and is due to her comprimised lung function. Her hypotonia causes her to breathe shallow, and she also has irregular breathing patterns typical in RS. On top of all this she has asthma and aspiration risk, so pulmonary issues are huge for her. Is Shay's spina bifida considered to be a part of her underlying condition, or something occuring separatly? Welcome to the group! Krisitne, Chelsea's mom, 7, Atypical Rett Syndrome (FKA nonspecifi cmito) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 18, 2004 Report Share Posted November 18, 2004 e, well im not sure if her spina bifida occulta has anything to do with her underlying problems or not. we are going to see a ped. metabolic spec in dec so i hope that we will find out more. thanks for ur reply, im just tring to find out somethings so when we do see the new dr i can ask questions sonja Re: new need some info Sonja, You are in the right state! Dr. Schoffner has a great reputation when it comes to diagnosing mitochondrial diseases. He is centered in Atlanta, I believe. I would definatly look into taking Shay there, especially if you are considering a muscle biopsy. My daughter was previously dx'd with a nonspecific mito disease, but was recently found to have the gene mutation for Rett Syndrome. It is still unknown whether she has any mito issus with the RS or not. It is a possibility, since Chelsea has been showing symptoms at a much earlier age and is more phsically impaired than is typical with RS. She also has a shallow rib cage with a significant flair at the bottom. This developed very early on, and is due to her comprimised lung function. Her hypotonia causes her to breathe shallow, and she also has irregular breathing patterns typical in RS. On top of all this she has asthma and aspiration risk, so pulmonary issues are huge for her. Is Shay's spina bifida considered to be a part of her underlying condition, or something occuring separatly? Welcome to the group! Krisitne, Chelsea's mom, 7, Atypical Rett Syndrome (FKA nonspecifi cmito)Please contact mito-owner with any problems or questions. Quote Link to comment Share on other sites More sharing options...
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