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Dr. Hive: mitochondrial disease


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What kind of doctor would I need if I want to thoroughly investigate the possibility of mitochondrial disease?

 

The following list of symptoms all apply to the person in question, and I just discovered them together on a list of symptoms of mitochondrial disease:

 

visual problems

hearing problems

kidney disease

gastrointestinal disorders

anxiety disorders

chronic fatigue syndrome

problems with coordination

muscle quiver

 

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Is this the same hospital that took that young girl away from her parents?

Well yes, but that has sadly happened at other places too.

 

They also have a very good mito program that several of my friends have had their mito kids treated at and kept them alive for many years longer than anyone expected, so there’s that.

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Neurologist for a referral to genetics since most geneticists are so swamped they won't accept self-referrals even if the insurance doesn't require one.

 

FWIW, I always suspected my SN child had mito until we had the whole exome sequencing done that included mtDNA sequencing. Turns out she has a rare neurological syndrome that is due to a chromosomal mutation and her mitochondria are fine.

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Neurology did ours. I have heard Cleveland is great. Our doctor locally was excellent and trained with the top peds mito specialist in the US for a while. We also saw Dr. Haq at Detroit Children's and he knows his stuff. He can be hard to understand as he is brilliant and doesn't always speak in language the rest of us can understand but he is good at what he does/knows.

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Are they finally doing bloodwork for mito? When I looked into it a few years ago, mainly they were talking about biopsies and microscopic study of live tissue.

YES they are. My older daughter had to have the muscle biopsy but younger DD only did lots of tubes of blood.

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