We heard from Dr. Harris, the genetics/metabolism specialist from Children's yesterday. One of Annie's tests came back showing an elevated level of methylmalonic acid, which can be an indication of a B12 deficiency. We also spoke to Dr. Smoot later in the day about the results. Neither doc thinks that the B12 deficiency could be the primary cause of Annie's cardiomyopathy, but the deficiency could be indicative of other primary issues.
We went back to Boston this morning to have more bloodwork done, and they're working to have some results by Friday. Dr. Smoot is planning to go ahead with the cath on Monday, but these results may change the need for a skeletal muscle biopsy.
So ... we still don't know much more. Dr. Smoot said she has been fooled by results like this before and they have ended up not meaning much of anything. As Dr. Harris said yesterday, they are learning so much about all of this stuff that anything is wide open right now. Oh, and I've been making a menace of myself by digging up info on all of the tests that were requested today without knowing what the doctors are thinking or where they might be headed. Really, the Internet's a good thing ... !
As I was writing this post, my parents pulled up in the driveway. Hooray!
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You re-wrote some of this post, didn't you?? LOL!! I'm glad your parents made it! I have something for you from one of my sisters...I'll call you to see when I can swing it by.
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