looking like 'non specific' mito here...

[Guest guest]

We saw s neurologist today, and she said all his biopsy and

CSF tests came back normal... shes not sure though as they may be

waiting on a few other tests...

basically she said in spite of all those tests being normal, she is

inclined to say he has mito regardless based on his bloodwork

(palmitate oxidation, lactic acidosis, borderline carnatine, low

blood sugar), MRI, and symptoms....

So we will see the geneticist in January for the final diagnosis,

and go from there, but were not likely to get a definate 'name'

beyond mito...

[Guest guest]

We saw s neurologist today, and she said all his biopsy and

CSF tests came back normal... shes not sure though as they may be

waiting on a few other tests...

basically she said in spite of all those tests being normal, she is

inclined to say he has mito regardless based on his bloodwork

(palmitate oxidation, lactic acidosis, borderline carnatine, low

blood sugar), MRI, and symptoms....

So we will see the geneticist in January for the final diagnosis,

and go from there, but were not likely to get a definate 'name'

beyond mito...

[Guest guest]

i KNOW how frustrating this part is. WE didn't have a specific name for Lexi or

Mitch's mito delays, only that they were mito related. It was always

" suspected " this or " possible " that...but the way research is picking up,

hopefully we can start getting some more definitive labels that will heop our

kiddos. Just last year we found out that my kids are both affected by pyruvate

dehydrogenase disorder. That was the first time we've ever had a real " label " .

Sounds like your neuro is on the mark, though, in giving the mito label, even if

it's nonspecific. Hope all is well on that end.

ruth

mito mom to Mitch and Lexi, both mito affected and my treasures

[Guest guest]

i KNOW how frustrating this part is. WE didn't have a specific name for Lexi or

Mitch's mito delays, only that they were mito related. It was always

" suspected " this or " possible " that...but the way research is picking up,

hopefully we can start getting some more definitive labels that will heop our

kiddos. Just last year we found out that my kids are both affected by pyruvate

dehydrogenase disorder. That was the first time we've ever had a real " label " .

Sounds like your neuro is on the mark, though, in giving the mito label, even if

it's nonspecific. Hope all is well on that end.

ruth

mito mom to Mitch and Lexi, both mito affected and my treasures