ds is on the spectrum, age 5.5. i've posted over the years here about his various issues. serious seizure disorder that has been fairly refractory to medication. low tone, delayed all around and immune deficiency.
with intensive ABA therapy, he has made amazing progress in every way, except gross motor. he is doing very well academically, despite the serious expressive language delay.
we recently started him on MAD (modified atkins diet for seizures). it's had a seriously positive effect on him in reducing seizures significantly. he does even better in a total fasting state. his body likes to be in ketosis and his body seems to love high fat. he looks SO healthy these days. it seems that carbs are not his friend at all.
we've done a lot of testing over the years and genetic testing came back with nothing and the extensive OAT only showed a slightly elevated glycine level. he takes TMG and i think that may be what gave that slightly elevated level.
he has also done very well with biomedical support and IVIG.
we aren't really willing to put him through too much more invasive testing as he has had to deal with a lot of medical stuff at his young age and i am not convinced that a diagnosis could be found, and if one was, i'm not sure it would impact the treatment we are giving him. i should also note that he has never regressed or been hospitalized.
i've read and read and read about various mitochondrial disorders and metabolic disorders. nothing seems to fit him. i would just like to know how to support him even more. is it possible that he really does just have mito dysfunction (what his doctors seem to think)? can you give me some advice on how to give more support? he does so well with every researched intervention we give him.
thanks for any thoughts/advice!