Ethan's current score for diagnosing him with Mitochondria Disease Clinically is a 4. That puts him in the "possible" category. Probable is 5-7 and Definite is 8-12.
His Biochemical Criteria score is 1. Anything between 1-7 is considered normal.
His Genetic Criteria is currently still be tested. They are currently studying the banked muscle for mtDNA or nuclear DNA mutations. That won't be back for another month or so.
So basically, his scores right now are low and that is why Dr. Shoffner put in his conclusion that he was leaning towards him not having Mitochondrial Disease. If some reason the DNA Mutations come back with some crazy results than that would change everything.
The good news is we know he definitely doesn't have Prader Willi, Angelman Syndrome, Leigh's Disease, Rett Syndrome, fatty oxidation disorders, glyco storage disease or Pompe Disease. Thank God.
Dr. Teasley said she has spoken with Dr. Bodurtha (our Genetics Doc) and they feel that right now Teasley can not do anything else to help him and that Bodurtha will take over. We see her in the middle of September. Dr. Teasley did say that Dr. Bodurtha will talk to us about some testing that can be done in Bethesda at the National Institute of Health's Rare Disease Center.
So we are still looking for answers....
1 comment:
I am going to look into Vacterl association ( vater syndrome) with Ava. I go back to the Endo in nov and we can't figure out what has stunted her growth. My little sister come over, and we both talked about our grandmother she had stunted toes/my lil sis does, and i am missing pinky knuckles. ( so this puts us in a possible situation) when she was born they talked about her oddly shaped head/ she does have extra growth at the bottom of her spine, AND her kidney problems. If my huntch is right, its possible she has stunted bones too?? its just we havent seen it yet..( our limbs are normal just seems by a certain age they stoped)
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