New-have been lurking & have lots of ?s

March 10, 2004

Hi~my name is Kim and my 5 yr old Madison is being " watched " for

mito. This is how it all started:I had lots of vomiting throughout

her pg. She slept ALL the time as an infant, delayed milestones but

not enough for the drs to be concerned when she was an infant. Her

head size was very lg and was checked for fluid and it all came back

fine. Her head still grew lots and is still very lg. 2yrs-she had 3

seizures in a 5 mo. time frame. All eegs normal so I was told to

call when she has another. She was not talking like others so at age

3 I had her developmentally tested. She was delayed in all areas w/

hypotonia. Started therapy and we are still in therapy. Started

seeing a genetics at 3 1/2 due to birthmarks,delays,etc. At age 4

the genetic wanted another eeg b/c she saw some tremoring. The eeg

came back moderately abnormal but the nuero said it is not an

epileptic reading. She has spikes but are not all the way through

the reading. So that was last May. We had another eeg in Sept and

it read the same way. Madi complains about her legs hurting and she

fatigues easily. The genetic dr started labs for mito. All her

testing has been normal. Chromosome, DNA, you name whatever blood,

urine test-we have had it done. The dr. is suggesting the muscle

biopsy. I just do not know if we need to do all that. To look at

Madison, she seems normal and alot of my friends do not understand.

My fear is Madison getting worse when we could be helping her. I

have been lurking for months and all of you are very knowledgeable.

We went to the nuero Monday and he said maybe we should do the test.

I asked about it being frozen or fresh biopsy and he said it did not

matter. From what I read it needs to be fresh-is that correct? I

also gave him an article about abnormal eeg movements and mito and he

had never heard of it. Any info would be helpfull. Sorry for being

so long. Kim

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