Guest guest Posted January 19, 2005 Report Share Posted January 19, 2005 I met with the genectics dr. today and he advised that he believes that Abigail has an unspecified mito. He feels that at this point it has affected her optic nerve (optic nerve atrophy legally blind), heart (dialated aorta) and she has large red blood cells (MCV 96.5, 87.0 being normal). Her first bloods had her lacate at 30.1 (4-16 being normal) pyruvate 0.2 (0.3-0.7 normal) and her second bloods lacate 1.96 (upper level of normal being 1.5) and pyruvate.09 (don't have normal levels). I have to wait for the formal report level and make an appointment with a hemotologist. She sees the neorolgist on 2/28/05. He mentioned a new blood test rather than a muscle biopsy for more specifics. Has anybody heard of this? He said the blood test is $4,000.00 and many insurances don't like to pay same) Any feedback is always appreiciated. Thanks for listening Kerry Mother of Abigail 4 years old (optic atrophy, unspecified mito) and Bridget. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 19, 2005 Report Share Posted January 19, 2005 I met with the genectics dr. today and he advised that he believes that Abigail has an unspecified mito. He feels that at this point it has affected her optic nerve (optic nerve atrophy legally blind), heart (dialated aorta) and she has large red blood cells (MCV 96.5, 87.0 being normal). Her first bloods had her lacate at 30.1 (4-16 being normal) pyruvate 0.2 (0.3-0.7 normal) and her second bloods lacate 1.96 (upper level of normal being 1.5) and pyruvate.09 (don't have normal levels). I have to wait for the formal report level and make an appointment with a hemotologist. She sees the neorolgist on 2/28/05. He mentioned a new blood test rather than a muscle biopsy for more specifics. Has anybody heard of this? He said the blood test is $4,000.00 and many insurances don't like to pay same) Any feedback is always appreiciated. Thanks for listening Kerry Mother of Abigail 4 years old (optic atrophy, unspecified mito) and Bridget. Quote Link to comment Share on other sites More sharing options...
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