Re: Barshop/Boles, etc/Lori

[Guest guest]

Lori,

I agree Barshop is a nice man however he was critizing one of the

other UCSD mito docs to us and I found that very unprofessional. I

have talked to several parents that had biospies done at UCSD that

were completely negative and then redone elsewhere only to find

several mito defects in the muscle biospy. For awhile UCSD stopped

doing muscle biospies ( about a year ) and have just recently

started, (at least on adults as I was waiting for one )

makes you wonder why.

When we first saw Barshop he thought my kids had a glycosylation

syndrome and ran tests that came back negative he said there was no

way we had mito. On a return visit to him we told him that another

mito doc at UCSD said he agreed it was probally a glycosylation

defect and Barshop said the other doc was pulling guesses out of a

hat, I reminded him that he was the one that first suggested it..he

then told us my kids were perfectly fine and we did not need any

further treatment or follow up.

Anyway while there we saw the author of the medical book " s

guide to genetic and dysmorphic syndromes " he said we had mito.

we are still being evaluated for the glycosylation defect but thus

far it is all negative but at least we have the confirmed mito on

biopsy..by the way my kids are all immunedeficient and have a

clotting disorder..how about your son?

hugs