Help! Suspected mitochondrial disorder

[Guest guest]

Hi I just found this group and hoped someone here might be able to

help. My son is 3 years old and has an undiagnosed disorder. He began

having myoclonic seizures at 5 months and was put on zonegran, which

has kept them under control, around 8 months. He has had metabolic

testing done, including a muscle mito test - all normal. He has had 3

brain MRI scans - normal results. He was born with undescended

testes - they were still in the abdomen and were underdeveloped. He

is extremely delayed - cannot crawl, walk, or talk. He did babble as

a 5 month old but that is the only part that regressed. I am unsure

of whether it is from the seizures, from the zonegran, or from both.

He now squeals quite a bit, so we're hoping that might develop into

some other baby type sounds. He didn't start using his hands until he

was 13 months old. He has oral motor problems and sensory issues. He

does continue to make very slow progress. He sits up well and is even

using the potty. We got him in a clinical study at the NIH in

land and even their tests (which included fragile x and Rett

syndrome) came up negative. He is also quite small for his age (25

lbs and 34 inches (though he was 9 lb 4 oz when born). They suspect

mitochondrial disorder of some kind.

Does anybody have kids with mito disorder that are like my son? I was

first told mitochondrial disorders are fatal, but since found out

that is not true. Besides the above, Liam doesn't have other things

I've seen described for most known mitochondrial disorders - no

lactic acidosis, no eye problems, hearing problems, intestinal

problems, or heart problems.

Thanks in advance,