Originally Posted by Roar
I know it can be scary. It is good to know though. And, it is worth pursuing in case there is something that might make him feel better. Have you tried any kind of supplements at all? We found EFAs helped our kid quite a bit.
I soooo agree it is worth pursuing. In some of these conditions treatments can do wonders for kids. EFA's though; depending on the issues (fatty acid disorders, mitochondrial disorder) fish oil and vegetable oils particularly can be problem fats. It is for my son. I think something like a DHA capsule is ok. But if there is question about metabolic/mito issues fat can be the underlying issue. That said, we right now are back to giving Andrew some fish oil. But his other fats of that type are severely limited in his diet. And we may take the fish back out...we'll see.
HeartMama, I pm'd you. I do think you've got some investigating someone should do (someone good as Nicole mentioned) and I think your looking is going to be broader than this one area.
It will be ok. It really will. Nicole was saying that mitochondrial (and many metabolic issues) can damage the heart but not cause a malformation.
CoreyBreeze, we went to Cleveland to see a mito specialist. I had found the mitochondrial UMDF site online and I knew my son fit the profile though I hoped I was wrong. Anyway, the did a urine and blood work up while we were there that came back with abnormalities showing problems with fatty acid (fat) metabolism. He was started on a medication called carnitor immediately because his carnitine levels were extremely deficient and he had some nasty stuff built up in his system. They did a heart echo to look for heart damage (none) and ordered a skin biopsy. His skin biopsy results (sent to various places for various things) showed again that he can't metabolize fat and has problems with what is called OXPHOS. But no specific known fatty acid disorder. His symptoms, skin biopsy ruling out two other possibilities, and urine mitochondrial markers led to his "diagnosis" which is mitochondrial dysfunction either primary (the main problem) or secondary to an unkown disorder of fatty acid metabolism. Do I care that it isn't exactly known? Nope..because he's doing so well with diet changes and the supplement/medication protocol for mitochondrial disorder. But to get a mito diagnosis they have to do a muscle biopsy (which at this time we don't plan to do) that finds mitochondrial issues. Technically they have to find a mutation in the DNA I think to call it the primary diagnosis. But most of the DNA mutations for mitochondrial are unkown right now. Did that help?
The key is seeing someone who knows mito..there are only a few of those unfortunately. Houston, Cleveland, I think Oregon, Boston, Atlanta, Indianapolis are the ones I know. But likely there are more.