Possible Mitochondrial Disorder

[Guest guest]

Hi my name is Pam and I have a 16 month old

daughter who is believed to have a mitochondrial

disorder. We did a blood work up three different

times and my daughter's pyruvate and lactate levels

came up abnormally high each time. We had a muscle

biopsy scheduled but we cancelled it to see how far

she would progress herself. She has also been diagnosed

with hypotonia(low muscle tone), grade three kidney relfux

bilaterally, OMA(ocular motor apraxia)(a rare eye disorder where

is unable to controll her horizontal eye movements

which makes her overlook what she wants to look at, and

then she returns to what she wanted to look at)(complicated to

explain), and gross developmental delays. She is 16 months old

and can not crawl, pull up, push up, walk, bear any weight thru

legs and she can only bear a little weight for a short amount

of time thru her arms. We had an MRI done and that came back

within in normal range for her age(3months old at time of MRI).

We are going to see a geneticist. I just wanted to post and

see if anyone had any suggestions or has dealt with any of

s symptoms or problems or the elevated levels in her blood that

she has. I would appreciate any information. Thank you

Pam mother of Ashely (16 months old)