Tuesday, December 19

No news is good news...

We had our appointment today with the geneticist and fortunately didn't learn much. I would say no news is good news when it comes to those appointments. They didn't find anything suspicious with her last panel of blood work. This is a far cry meaning we are in the clear however. Mito is difficult to diagnose, especially through blood work or spinal fluid labs. The best indicator comes from a muscle biopsy which we understand to be quiet an evasive surgery and take several months to schedule and even more for results, and there are only a handful of places in the country that can facilitate a fresh biopsy. Because of those reasons, muscle biopsies are usually the last test you'd perform. Even muscle biopsies are not 100% conclusive. So again, no news is good news (or at least as good as we could hope for). It means there's a chance it's not Mito, a chance it's something else, a chance it's not progressive, a chance it's curable (so I'm a wishful thinking father).

Next step, more blood work drawn today; checking Copper, Ceruloplasmin, Carbohydrate Def Transferrin, Creavtine Guanidoacetate, S-Sulfucysteine, Carnitine. Don't worry, you won't be tested on these.. To other Mito parents asking 'why didn't they check Carnitine earlier'. We're not sure. To everybody asking 'why didn't they just check all these earlier so you don't have to wait another several weeks'. There again, not sure.

Enough of that stuff. Now to the good news. Anya has been doing awesome the past two days! I'll write more in a bit... got to run.

-dad

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