What to expect from an appointment with a geneticist?

[Anonymous]

My DS is going to see a geneticist at CNMC. He had an abnormal MRI and the DP wants this as the next step (along with an appt with a neurologist). What should I expect at the appt with the geneticist (as far as do they draw blood right away, take a family history--what is entailed in the appointment)?

[Anonymous]

We see a neurogeneticist at CNMC--two birds with one stone and she now acts as my child's DP. They take a history, ask a lot of questions, do an exam (noninvasive), look at the gait and do a blood draw. If anything interesting comes back they will test you too. Getting a microarray was the answer to all our questions. Our person works with a genetic counselor who acts as an asst.

[Anonymous]

Your child gets inspected among other things. Don't be surprised to see some medical language describing your child's features. When I first read the report I was thinking my child had all these abnormalities that the doctor failed to tell us about. Turned out the terms meant things like gummy smile, flat feet and other things I don't really think are worthy of reporting, but I'm not a geneticist. Oh and they left out "devastatingly good-looking" which I think is the most relevant term to describe my child's physical attributes.

[Anonymous]

At ours we didn't get the blood draw right away, we did family history and the physical exam and then they got approval from our insurance company prior to doing the micro array. Definitely try to think about your family history before you get there, because I hadn't and fumbled a little through it.

[Anonymous]

The family history part is pretty intense. We see a geniticist once per year or so and our conversation always exhausts me because it is so lengthy and detailed. Don't turn down a blood draw at CNMC, if you have to have one done. Their phlebotomists are really skilled with little ones. Just make sure you hydrate before.

[Anonymous]

Anonymous wrote:The family history part is pretty intense. We see a geniticist once per year or so and our conversation always exhausts me because it is so lengthy and detailed. Don't turn down a blood draw at CNMC, if you have to have one done. Their phlebotomists are really skilled with little ones. Just make sure you hydrate before.

OMG this is so true about blood draws. CNMC is incredible with kids. Now my favorite phlebotomist is no longer there, but I assume they must train people well. My favorite phlebotomist was so amazing with my kid I contacted her supervisor.

[Anonymous]

You'll see the genetic counselor first who does a detailed medical and family history. So make sure you think about illnesses, any genetic conditions etc in your family or your spouse's family. Then the geneticist (the doc) comes in and asks some more questions and does an exam on your kid. If they want to do testing they'll likely have to get pre-auth from your insurance company so they'll do that and contact you once it's set and you can bring in your kid for the blood draw.