dm866 Posted April 4, 2016 Report Share Posted April 4, 2016 Has anyone been diagnosed with mitochondria disease or know what it is and how it is diagnosed? I feel like I have many of the symptoms, not sure what my Dr. Will think when I ask about it.. Quote Link to comment Share on other sites More sharing options...
DizzyGirls Posted April 4, 2016 Report Share Posted April 4, 2016 My daughters were thought to possibly have mitochondrial disease (MELAS to be specific). We had genetic testing done and it was determined that they do not. It was whole exome sequencing done at UCLA. All they use is one vile of blood. Now, I do know that the "gold standard" for mitochondrial testing is a muscle biopsy, but my daughters' pediatric neurologist thought that might be too much for them as they are quite ill. In the end, they were both diagnosed with Ehler's Danlos Syndrome, hypermobility type, and dysautonomia. I would read anything you can get your hands on (medical journal articles would be the most accurate and detailed). A lot of things can cause a secondary mitochondrial issue, and that is what we are dealing with concerning my girls, most likely the EDS. Quote Link to comment Share on other sites More sharing options...
RichGotsPots Posted May 9, 2016 Report Share Posted May 9, 2016 Contact the united mitochondrial foundation for a physician who specializes in mito disease. Quote Link to comment Share on other sites More sharing options...
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