Foiled

We had our big metabolicist meeting today -- the first one since June when he told us that he was out of ideas, and to check in with him in a year or two. But I couldn't wait a whole year; my list of possible diagnoses was growing too quickly. Basically he agreed with everything I said we should look for, and even though she doesn't have a diagnosed mitochondrial disease, my belief that the CoQ10 is helping her was enough to push him into getting a mito cocktail written up for her.

As "luck" would have it, we thought, Jordan's going to be at his hospital on Thursday after her hip surgery (she's being transferred from Shriners to Doernbechers for "precautionary PICU"), so voila, we'll do the lumbar puncture for the cerebral folate deficiencies & the non-ketotic hyperglycenimia while she's there & has an IV & can be easily sedated. We're also going to re-do the BH4 test that got screwed up in June (grrrrrr lab!!), as it needs a blood & a urine at the same time.

So then, I got home & was explaining it all to Devon & it hit me: She can't have a lumbar puncture while she's in a spica cast from 'pits to toes! Doh! Foiled! They can't get in and do it before the surgery, so we're going to have to wait 6 to 12 weeks to do it after the surgery. . . .

Oh well, at least he agreed with me, that given all the NORMALS & NEGATIVES Jordan has racked up in the last 2+ years we might as well try these tests & the mito cocktail & see what happens. We'll just have to wait a little longer to do them. Patience is a virtue, right!?!?