PDA

View Full Version : How do you know?



c0urtnee
12-13-2006, 11:02 PM
Sorry if I missed it in one of the previous posts.
How do you know if you need genetic counseling or a syndrome is involved at all. I really dont think this applies to Jack, but I can't help but wonder. I trust my doctor, but doctors miss some of the most obvious things, or don't find them important ya know!?! Thanks for helping me out guys! I've been sitting here with so many questions for about 2 months now!

Melissa
12-14-2006, 07:18 AM
I'd ask the doctor about it - just ask point blank about having genetics testing done. We had a genetics consult when Bryson was born, before we left the delivery hospital, but never went so far as to have the bloodwork done. Our geneticist was positive he had one of 2 things when he was born, and watching him over the next couple of months proved which it was, so we never felt the need for the bloodwork. Bryson's is a syndrome that was just a new genetic mutation, though, because neither his father nor I have it, and it's an autosomal dominant thing - it couldn't 'skip' generations or anything. Hang in there, and good luck finding answers to your questions!

cheryl2
12-14-2006, 03:37 PM
I second what Melissa says, it can never hurt to ask your doctor. I'd venture to say that the docs will usually want to do genetic testing if there are other issues in addition to cranio like eye issues, hearing loss, etc.

Katie
12-15-2006, 01:45 AM
It certainly couldn't hurt to make an appointment for a genetics consult. A genetecist would be able to pinpoint weather or not there are syndromatic features, and if there are can recommend the appropriate testing. There's no blood work involved in the initial appointment, but it can take a while as the Dr will go over detailed family medical history, and do a thorough examination of the baby to look for syndromatic features. :hugg