muscle biopsy results pos CPT defiency??

[Guest guest]

Yesterday I went and picked up the results for my electron

microscopy. I do not see my Dr until the 30th of Nov. Here are the

results:

The biopsy shows multifocal areas of myofirillar degeneration and

lysis. There are scant accumulations of lipid droplets as well as

mitochondria, both in the subsarcolemmal space as well as within the

myoofibers. A variant of CPT deficiency should be considered.

I am really trying to fiqure things out! A CPT deficiency sounds

likely, especially with my 13 yo daughters symptoms. Food intake is

such an important part of how she feels.

I am wondering if this deficincy is secondary to something else. My

biopsy which was flash frozen sat in the refrigerator over the

weekend before anything was done with it!!!!It was sent out for

electron transport chain and electron microscopy. The electron

transport chain was normal, but I question the reliability, because

of my family's symptoms. I have always wondered why I did not have a

skin fibroblast done. Should this be done? Should I have a fresh

biopsy done? I have so many questions!!!I had genetic blood tests

for long and medium chain FODs. They were normal. Any suggestions

would be greatly appreciated. I realy do not trust the mito Dr I

have for justifiable reasons. I wish there was someone else I could

see. I just want to make sure all of the bases are covered for the

sake of my daughter. Also keep me in your prayers for my followup

appointment. I am worried taht I would leave knowing less thatn when

I came in. I am always so frustrated at these appointments. However

my daughter sees an MD neurologist next month. Pediatric Drs are

always so informative. Again any suggestions about anything would be

greatly appreciated.

Thanks Dawn Anich

Dawn Anich