Mosaic down syndrome

amother

Wed, Jan 04 2023, 2:48 pm

Do you have a child with mosaic ds?
Did you know from birth? how did you find out?
my baby is 10 weeks and physical therapist says she could very well be mosaic..
Genetic testing takes a long time..
Any way to know without?

amother

Cerise

Wed, Jan 04 2023, 3:22 pm

amother OP wrote:

Genetic testing is the only way to definitively diagnosed a genetic issue, especially a mire subtle one like mosaic Down's. At this age any issues she has can be treated symptomatically. Get on with the testing - the sooner you do it, the sooner you'll get results. In the meantime carry on with treating whatever symptoms are showing up.

amother

Wed, Jan 04 2023, 3:25 pm

amother Garnet wrote:

Testing is a few days.
Why does pt think that your baby has mosaic?

She has ds though is developing alot better than a child with ds

amother

Garnet

Wed, Jan 04 2023, 3:30 pm

Did they test at birth for DS? Mosaic is a form of ds and let's say they test and baby comes out 70% w/o extra chromosome you won't know where baby has extra chromosome eg. If extra chromosome is in the liver or brain......
Tou should have a easy time and easy upbringing

amother

Geranium

Wed, Jan 04 2023, 3:48 pm

Mother of beautiful girl with down syndrome here.

AFAIK can only be determined via genetic test. I'm in Israel, but I think it can be done here within a few weeks (ours took two weeks). I only know one child with mosaic, and I'm not sure that it makes such a practical difference at the moment, as there's no way of knowing how mosaic vs standard DS affects a particular child. (Of course emotionally it is a huge thing, hoping you get results quickly!)

amother

Wed, Jan 04 2023, 3:54 pm

amother Geranium wrote:

Thanks im in Israel as well.
we did karyotype is that the test for this?
on that note is this blood test also to this if the condition is genetic or a fluke? or did you have to go for genetic counselling for that?

amother

Carnation

Wed, Jan 04 2023, 3:55 pm

amother OP wrote:

She has ds though is developing alot better than a child with ds

I also have a daughter with DS who is KAH very high functioning, more than a typical child with DS. Many people have told me, are you sure she has DS? Are you sure she's not mosaic?

Thing is, for me, it doesn't make any difference. Who cares if 96% of her cells have an extra chromosome or 100% of her cells? In any case we are going to get her whatever help and therapy she needs. Maybe what she needs is different than another child with DS but we should be loooking at all our kids as individuals anyway.

There are some rare forms of mosaic where only a small percentage of cells have an extra chromosome. In that case the person may not even know they have DS and it may not be diagnosed until later in life. But those cases are very, very rare.

amother

Linen

Wed, Jan 04 2023, 4:03 pm

My daughter's karyotype was sent to Utah and took a week to get results. It should specify if moiaic or not. I've had people including an ent ask me if she is mosaic but she is not.
On a practical level it doesn't really make a difference. We meet every child where they are at and work on the next. If your child is doing well that's bh amazing. Aside for the way it may feel emotionally, there is nothing else different to do for mosaic.
Mazal tov on your new baby! Enjoy every moment of deliciousness!

amother

Geranium

Wed, Jan 04 2023, 4:29 pm

amother OP wrote:

I just checked with some others. Yes, it's the karyotype. Called שבב גנטי. You did the test already? If not, I was told to go through the kuppa genetic counselor. Also, only translocation type of DS could be hereditary. The karyotype should tell you that as well.

If you are interested, there are some DS Israel whatsapp groups, both English speaking and Hebrew, that you can join.

Also, have you been in contact with Shalva yet? If not, definitely call them, their Ani ve'imi program is fabulous.

amother

Valerian

Wed, Jan 04 2023, 4:51 pm

Another mother of a child with DS in Israel.

We had a similar story back when my child was born. We were also advised to test for mosaic, but the results came back that it was regular DS. Which in hindsight, I see makes really no difference.

And yes, I second the motion to get in touch with Shalva. The program is exceptional.

amother

Thu, Jan 05 2023, 6:24 am

Thanks to all of you.
I did the karyotype about 3-4 weeks ago results are still not, in they said it can take 2 month Rolling Eyes

we have been to shalva it an unbelievable place!!!

amother

Linen

Thu, Jan 05 2023, 8:23 am

amother OP wrote:

Thanks to all of you.
I did the karyotype about 3-4 weeks ago results are still not, in they said it can take 2 month Rolling Eyes

we have been to shalva it an unbelievable place!!!

That's insane! Noone gave us a definitive diagnosis without the karyotype. We were sitting and waiting and wondering...yes/no... A week was hard enough. I can't imagine waiting 2 months!
It's great that you can start therapy as young as 10 weeks. The process doesn't work as quickly here

amother

Forestgreen

Sun, Jan 15 2023, 8:04 pm

mother here of a child with mosaic ds... the dr came back with the blood work results that its mosaic, although honestly what dif does it make? we're doing whatever we can for our son... Mazel tov to you, you should see lots of naches from your baby... and know one thing they are the yummiest cutest and light up our entire house. full of bracha