Geneticist?

Jinsy80 · February 2012

What do they do at first appointment? Do they do a lot of bloodwork? How often do you see them? DD2's pediatrician and EI teacher both want me to bring her...thanks for any info.

gremaud07 · February 2012

We saw one after DS was diagnosed with DiGeorge. We met them to discuss DS's diagnosis.

After meeting up we had bloodwork done then they called us with results.

Jcrab · February 2012

We have seen the geneticist maybe three times and I think we did bloodwork once or twice, definitely depends if they have a clear idea of what my be going on or not. Some families never need follow up, it just depends. We haven't gotten any real answers and they want to see DS every 1-2 years since this technology advances so rapidly. Mostly for the first appointment you just give them a detailed family tree and answer medical questions and they will examine your child. It is nothing to worry about and can only give you more answers in helping your child. HTH.

pete0121 · February 2012

We've seen the geneticist twice, and will once more in June (for probably the last time). DD was suspected to have Turner's syndrome at birth, so in the hospital they did the blood work. Then, at discharge, the genetics clinic just happened to be that day with a cancellation so they sent us straight there. He looked her over and the genetic counselor talked to us about Turner's. When the blood test confirmed it, they took care of setting up the tests and appts needed to check for other things. We met a month later. Basically, we talked and how she was doing and he gave us more info and answered questions.

Since we are diagnosed and she has other doctor's for her care, there will really be no need to see him any more from what I understand. Like PP said, its different for all families based on the child.

Florak8 · February 2012

The biggest thing to prep for is the family history. It is helpful if you and your SO sit down and brainstorm about any other medical or developmental issues in your extended family. I think making a family tree document to take would be extremely helpful. It's great if you can talk to your parents to see what they know of any illnesses in the extended family.

We go about twice a year, and DS is given tests as needed, once certain things get ruled out or new tests emerge.

If your LO has never had blood taken for any genetic testing, I would bet that you will be asked to have blood taken after the appointment. It might be several vials worth but nothing major.

mommyof4boys · February 2012

We go once a year. We went today actually

Ours is one of the only people who know about Christopher's 16p syndrome. She is helping us with program for school, therapies, etc.

ToastieSimons · February 2012

For us the geneticist was the last stop so we had extensive bloodwork and a lumbar puncture. We saw the geneticist, she said there was this one thing she wanted to test for. We went through DS's pedigree (a medical family tree). We talked about what to do if this testing was negative. We went over to the lab and had blood drawn. It took 3.5 months for the testing to come back.

When it did come back showing a mutation we went back in. We discussed the actual mutation, side effects, and preventative measures we should take. We had pretty much seen every doctor we needed to in the year prior so it didn't add any to our repertoire.

Justinlove · February 2012

-auntie-:

I would warn you that a gentics appointment can be unlike any other pediatric appointment you've ever had.

The others have given you the heads up around blood draws, pedigrees and timelines for answers. Be forewarned that many geneticists are not warm and fuzzy individuals who like babies. If anything they attract people who like puzzles and challenges. Bedside manner isn't always a strong suit among this crowd. Sometimes they can be pretty insensitive at commenting on very subtle differences in children- making what feel like insulting comments about facial features and the like.

We are really lucky that the two geneticists we have seen (our first one sadly passed away) are both really great with kids so hopefully you will have a kind one as well. Our neuologists have been the odd ducks of our team. Strange people...

Auntie is spot on. They are going to point out (either verbally or in writing) every.single."oddity" about your child's physical appearance. It can be a bit overwhelming and a little upsetting to be honest. Our first geneticist was awesome. Before we left, he told us that we would get a copy of his report in the mail soon. He warned us that some of the things might be a little upsetting because it feels like our child is being physically picked apart, but that many people that society considers "beautiful" would have a long list of things that were considered different as well (his prime example was Angelina Jolie and her lips).

mommyof4boys · February 2012

We went to one geneticist who was like that. He picked apart everything. In fact, one developmental pediatrician did as well and made it a point in his report to not only talk about the physical appearance of Chris but of me. The person who we see now is amazing with Chris and my other boys.

duchess0727 · February 2012

I've found its worth traveling for a geneticist who is a "people person". our original geneticist is truly a research person and she is exactly like people described. Very scientific - like my kid is not even a person. The one we found through a friend is very concerned about my daughter's development and care which is not typical of a geneticist. The first appt is basically family history and child's history. They may prescribe bloodwork if they suspect something. The amount will depend on what they are looking for. That could be done at a lab - depends on the doctor. Ours wants to see us once a year until she is 5 and then maybe less often after that.

Florak8 · February 2012

Oh, yes. Ours did say DS had a "fivehead". But she also went on about how cute he is. Last time we were there she took a picture of a mole on my face. You kind of have to leave your ego at the door! LOL

Jinsy80 · February 2012

Thanks for the advice! DD2's neurologist was an a-hole, so it's good to be prepared for insensitivity.

SugarChick10 · February 2012

FloraK8:
You kind of have to leave your ego at the door! LOL

LOL, yes!

Our DD saw a geneticist at our local children's hospital last year. He was very pleasant (and I had tried to prepare MH for him possibly not being a people person, lol) & got on great with our DD. Anyway, the dr and his assistant were examining DD and the dr would say "hmm, she has...oh wait, mom has that...ok, she has...oh, mom has that too." While performing the exam, the dr was matter of fact, but would also play with DD and tell her how good she was being.

Our geneticist didn't perform or refer us for any bloodwork. He & his assistant went over our family history, examined DD, took photos, and took measurements. We already had an appt with a dermatologist for a few months after, which he told us to keep.

carolinah · February 2012

-auntie-:
I would warn you that a gentics appointment can be unlike any other pediatric appointment you've ever had.

The others have given you the heads up around blood draws, pedigrees and timelines for answers. Be forewarned that many geneticists are not warm and fuzzy individuals who like babies. If anything they attract people who like puzzles and challenges. Bedside manner isn't always a strong suit among this crowd. Sometimes they can be pretty insensitive at commenting on very subtle differences in children- making what feel like insulting comments about facial features and the like.

We have actually had great luck with all of our geneticists, we have seen multiple thus far. Two are DD's primary Dr's and they are some of my favorite. DD has a genetic disorder so we see them often. We knew what we were looking for so our first appointment was just a long discussion, basic height/weight/etc followed by lab work...we always have lab work. I will say that most geneticists we have met are primarily pediatric dr.'s who are great with kids. Obviously, everyones experiences are different but you shouldn't be scared going in.

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