Probable Mitochondrial Disorder

I knew this. Really, I did. His first neurologist basically said that it was likely he had some mitochondrial dysfunction. But we didn't talk about it much, other than to make sure his carnitine and CoQ10 levels were okay. Yesterday, we visited the metabolic neurologist for the second time, and he said that he believed Will has a mitochondrial disorder. He has all of the markers for it. The reason it is "probable" is because he hasn't had a test - usually a muscle biopsy - to confirm it. He likely never will because there isn't anything different they would do if it were confirmed...he's already being treated as though he has it.

The problem is, even though I knew this was possible, it was very hard to hear and to discuss what the future holds for Will. As always with Will, no one knows. Here is the way he explained it to me: Some kids with mitochondrial disorders are stable and never have any progression. For others it is a progressive disease. For those who have progression, some have it badly. Others have a few systems that are affected and there is never any more progression. They just don't know.

It's scary. I can't say that it isn't. What is more scary is what's going on with his esophagus right now. That was concerning to the doctor. The systems that are typically affected most often with mito are the heart, eyes, ears, pancreas, and GI system. The fact that Will's swallow study was normal three years ago and not normal now could be a result of progression. Until we get the GI results back from manometry testing and talk to the GI, we aren't jumping to any conclusions.

The good news is, other than what's going on with his swallowing, Will has made sure but steady progress in the right direction, and his other systems are basically all intact. We know neurologically he has some issues obviously with delays and sensory and speech and so on, but his heart, eyes, ears, and pancreas are all good. Currently, he has no issues with breathing or any involvement there, either.

All we can do is count our blessings. And wait for GI.