Re: 1st Genetics Appt. Tomorrow - Advice?

[Guest guest]

We are going to our first appointment with the genetics clinic tomorrow

and was wondering whether anyone has advice on questions to ask or tests

to request. I know some of you have been around the block with this and

probably have some good ideas to help us get the most out of this

appointment.

Where we are in the process: My son is 13 months old was born with a

cleft palate, terrible reflux and has a seizure disorder. His urine

organic acids were tested at 5 months and again at 13 months. Both

times they were highly elevated. I don't think our pediatrician knows

much about it so he hasn't really suggested what the next step is other

than seeing a specialist. We saw two neurologist one said to retest the

urine organic acids the other said do a muscle biopsy.

I am trying to learn about these disorders so I can ask informed

questions but it is quite complex and I am having a hard time getting a

high level overview.

Thanks again. You have all been really helpful.