First metabolic genetics appointment - what to ask for?

[Guest guest]

Kathy,

i found the best resource on the UMDF.org website. There is an area to click on that gives diagnostic testing information for both families and another one for doctors. I read them both and made a copy of them as well. There are also a couple articles to download pdf style that are helpful as well.

Good luck with your appointment,

Anne R

[Guest guest]

Hi, everyone -

My 3 children and I have a netabolic genetics appt. at Hopkins on July 13th. We will be seeing Dr. Kahler (a DAN doc and geneticist, and highly recommended by Dr. Kelley) and Dr. Tao Wang, who is supposed to have a background in biochemistry and is also a geneticist. Bless his heart, Dr. Kelley spent an hour with me on the phone, and asked that I have these docs do our initial evaluation because he is so busy. He said that our history is suggestive of Compound I deficiency, autosomal dominant transmission. I do know that 2 of us (myself and my 5 yo son with ASD) have Carnitine deficiency on lab testing; my 12 yo daughter who has CP and is multiply disabled (Lennox-Gastaut epilepsy, h/o cardiomyopathy, autonomic dysfunction, s/p Nissen/Gtube with severe reflux and motility issues and other problems TNTC - but doing great on the ketogenic diet for 7 years) was put on Carnitor empirically 7 years ago with good results. My son is on the mito cocktail (the DAN way) and doing beautifully. I was started on Carnitor alone with good results. My 15 yo daughter with ADHD (Asperger-y) has not had any workup.

Can I assume that we will get a good workup for mitochondrial disorder, or should I go in there with a list of tests? If so, what should I ask for? I have found that when I go in to an appointment in an educated way, everything goes much more smoothly. Can you direct me to resources about diagnostic workups, or tell me what you would ask for? I feel pretty good about what to talk about in their medical and family histories, but need help on the testing.

Thank you!

Kathy