any suggestions...undiagnosed as of yet

February 26, 2004

Hi, my name is Tina, and I have a daughter, Kaelyn, who has a

suspected mito disorder. At 16 months of age, she became ill with a

virus of some sort and after a day of not eating/drinking well, had

a seizure at our pediatrician's office. She went into

cardiorespiratory arrest. Her blood sugar was tested by EMT's and

was below 30. After being stabilized in local ER, she was sent to

local children's hospital for 24 hr. observation. The next day she

was released with a diagnosis of febrile seizure and a strong

suspicion of MCAD deficiency. A few weeks later, after several

blood tests and a visit with the genetics clinic at another

children's hospital, we were told that she did not have MCADD and

most likely did not have any other FAO disorder. We were told

her " episode " was a " fluke " and most likely wouldn't happen again.

We haven't been back since.

Kaelyn is now almost 3 and I've once again begun my search on mito.

disorders. She has mild hypotonia, speech delay, and hyperreflexia

in both legs. She has mild spasticity (sp.?) in her right akle and

her right foot is slightly deformed and causes her foot to " toe-

in. " She was also intolerant to milk (milk only, not all dairy

products) up until about 2 months ago. She would get diarrhea and

stomach cramps when she drank milk. She complains of her stomach

hurting often now and she has had vomiting episodes in the past that

were totally inexplicable. Her cognitive development is right on

track.

I called the genetics clinic we went to two years ago recently and

explained her symptoms and that I was again suspicious of something

abnormal with her. I have an appointment with them April 22.

Does anyone have any suggestions as to what I need to ask at the

appointment? I know muscle/skin biopsies will probably be the next

step for us, if testing is suggested, as she's already had a normal

acylcarnitine profile done. Are the biopsies tough for the kids to

go through? Has anyone else had the mild symptoms that she does? I

also have a 5 yr. old daughter and a 16 month old son, who both seem

asymptomatic at this time. My son does seem very slightly delayed

with his speech at this time, but it's almost too early to declare

a " delay " with him.

Any thoughts/comments would be GREATLY appreciated!!

Thanks,

Tina

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