Sunday, January 18, 2009


I recently read an article about "probable" mitochondrial disorder, and how it's like putting together a puzzle. With the pieces of information (e.g. biopses, spinal taps, blood work), that you have, it all makes the puzzle pieces of mitochondrial disorder. As time goes by, you get new pieces of information that fits the puzzle of mitochondrial disorder. Then you might also suddenly have pieces that don't fit the puzzle, and it might be time to start a new puzzle.
Interestingly enough, that time might have come for Jacob. We did see a movement specialist (neurologist) on Friday. She didn't agree that Jacob's recent spells were vertigos. She thinks they are oculogyric crises. They are a reaction to a certain medical drug or medical condition. Due to Jacob's medical picture and possibly having oculogyric crises, she thinks we do have to test him for CSF neurotransmitter disorder. She is also thinking it could possibly be AADC deficiency, a very rare metabolic disoder. So, after a very long time of no testing, she absolutely feels that we have to do an MRI of Jacob's brain again as well as a spinal tap. It's always with mixed feelings when this starts up again, but we absolutely need to know if this is what it is or not, since it would be treated differently than mitochondrial disorder.
So, we're getting ready for more tests and procedures, and hoping that this might give us some new answers. At this point, no diagnosis would be great for Jacob, but it would give us the chance to treat him for the right thing as much as possible despite the disorders having no definite cure.
Jacob is otherwise recovering nicely from his surgery. He has also have no more spells since Monday night, so we're hoping that we won't see them in a long time.
He is still pretty still, not that interested in moving around too much, but hopefully going in the right direction. He was out in the sun today, the first time in a month. We have around +15 C degrees and sunshine in Denver today! You do start thinking about spring...

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