s/o the "genetics" people

[NandaB]

What exactly do the DO? I could ask the pedi, but its nighttime so I'll ask you guys instead.

Our pedi gave us the number for the geneticist? (or something like that) I didn't call them because I wasn't sure why I would, but maybe I should. We know W has Ds. They did a blood test after birth. (although they didn't tell us what kind, his pedi actually mentioned that it maybe mosaic due to his "mild" physical characteristics)

Am I missing something? Is there some additional reason to make an appt with them.

[pipsqueak]

All I know is that the hospital ds2 was born at dropped this particular ball.....we had the MaterniT21 test done when I was pg but they never did the confirmation testing following his birth. I started questioning his pediatrician and finally it was caught that the test was not done at birth.....so his was done at about 9-10 months old. The test told us what type he has, as well as let us know we have no increased risks of having another with T21 (his T21 isn't hereditary). They also went over some other medical information on things to watch for/test for at different ages that most children would not be tested for, i.e. thyroid problems.

[NandaB]

Hmmm. I actually had to ask for the test because his pedi didn't know about the screening test results, and didn't notice any physical signs at birth. In fact, he was surprised when I said the screening test had been positive.

We are definitely NOT having any more children, so that isn't an issue. I guess I'll ask the pedi when I talk to him next.

[toastie]

The geneticist can do a genetic test for Ds. It will tell whether it's imherited, random and or mosaic. If it's imherited, it may not affect you, but could affect your older children. They may also carry the gene giving them a higher chance of having children with Ds.

It's also possible he doesn't have Ds, and has a different genetic disorder that mimics Ds, or has a translocation that made the test positive without it being a trisomy.

It's your call. Genetics is more an informative specialist. It usually has long waits for test results and sometimes comes up inconclusive.

[BostonKisses]

I'd probably get it done because it can give you more information about what type it is, if it was a random cause or is inherited, etc.

[NandaB]

Ooh. I didn't think about the possibility of it affecting the older kids, or of it being inherited by their future children,

[NandaB]

Thanks everyone

[yellowlilies]

Both of my boys are followed by genetics. My oldest has a rare duplication on his 11th chromosome my youngest has two extra x chromosomes. Mostly they just seem to keep up on the research for me. For ODS, only 3 other cases are reported so the genetics md does a literature search every year to see if more is known. I do my own research as well but with such little to go on I'm a bit lost.

That said, we haven't been since sept 2013 because the doc we loved left and I've heard not so great things about the other doctor.