Does anyone have a child with a mitochondrial disease?

User - posted on 02/02/2012 ( 2 moms have responded )

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I have a 9 month old son with numerous developmental delays and a feeding disorder. He went from breastfeeding to bottle feeding to tube feeding in a few short months. He is extremely weak through his trunk and arms but his legs seem to have normal strength. He has absolutely no idea where he is in space and can roll a little (although not very efficiently!) He is unable to sit or support himself and has a large, odd shaped head. A recent muscle biopsy revealed that he has too many mitochondria. However, they are all functioning and "normal." Has anyone else ever heard of this? --Melissa

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Iridescent - posted on 02/03/2012

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My mom and sister have MELAS. My son has A1464G. The doctors are also pretty certain that myself and my 3 biological children have MELAS as well.



Having a higher number of normal functioning mitochondria than typical can simply be the result of his body working well to compensate for some other problem. Have you seen a metabolic doctor yet? If not, please request it. It seems lately that so many doctors are so quick to assume something is mitochondrial that they forget metabolic completely, when metabolic needs to be totally ruled out first. I do hope you find the answers you need. At least a metabolic disorder often has treatment; mitochondrial simply doesn't. I don't wish that on anyone.



Next, the MitoDx blood test might be of benefit, although it's very slow. You already did the biopsy so I'm not sure if this has been discussed. It's much more accurate than the Baylor mtDNA tests. Running this in addition to metabolic tests for a quicker answer would be a good idea in my mind.

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User - posted on 02/07/2012

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Thanks so much for your reply! Yes, he has been seen by a metabolic specialist and had extensive metabolic tests but his testing has come back normal as have his other clinical testing with the exception of a slight increase of lactic acid in his muscles. I'm not entirely sure if he had Baylor mtDNA tests or MitoDx blood tests but I will definitely check. I really hope we find an answer soon as not having a diagnosis has caused extreme financial and emotional duress on top of the many, many developmental issues. He exhausts and just falls suddenly and every little thing is a monumental struggle.

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