New Here...Lots of Questions

[Guest guest]

Hi!

We have not received a diagnosis yet but are waiting for an

appointment with the genetics department. When my son was born he had

a cleft palate, vomitted alot and had weird reactions to food. By 5

months he started having seizures. We were told he probably had

epilepsy but it wasn't related to anything else.

Now, at 13 months he has been having seizures again and we found that

his pyruvate and valine were elevated.

So, we have lots of questions and are trying to get a better

understanding of these disorders.

Do you see endocrinologists or geneticists for mito?

Did your diagnosis start with testing of amino acids and urine organic

acids? We are wondering how signifigance of these.

What are the different Complexs? Are they levels of severity or

different types?

Does treatment help in any case? One doctor told me yes others have

said no?

Thanks! Any suggested reading would be appreciated as well.