Hi, is it true that the spectrum of DS can be so mild that some people are unaware they have DS. We were discussing DS with a friend yesterday who's father's a doctor and said he was the source of this knowledge. I was wondering if anyone else had heard of this before, as I actually find it quite hard to believe DS can be so undetectable.

I've heard this mentioned when they talk about Mosaic DS.

Thing with Mosaicism is that many kids with it don't look like they have DS. They just have lower tone, or may be slower to learn. I looked on the Mosaic DS website a few years ago, and many parents talked about how they only found out what was 'wrong' when their child was much older.

http://www.mosaicdownsyndrome.com/stories.htm
http://www.mosaicdownsyndrome.org/Photo-Gallery-Output/index.htm

Some of the kids, you can tell, have DS, many you can't. At least not by sight. There are probably plenty of children out there who may have Mosaic DS, when they're just thought of as having a learning difficulty, for example. Many of the children on these sites were diagnosed as the result of an amnio. If it hadn't been for that, you may not have known.

With Mosaicism, the average IQ is usually between 70 and 90, so can have 'normal' intelligence. Therefore, if there are no facial, or other features to see, then I could understand that the DS would be hard to pick up.

Long-winded answer to a short question!!!

Simply - yes.

There was a report a while ago (I can't remember the source!) where a lady had a child with DS. She didn't take up genetic counselling and had a further child who also had DS. She then had the genetic counselling and it was found that she had mosaic Downs! As she said she never realised, she'd never had any problems in school or college and had good qualifications.

I wonder if they could be referring to being a carrier of translocational ds. Natalie has tran. and we are currently waiting for the tests to come back to see if we are carriers. If one of us is we never would have known if we hadn't had a child with ds.

I find this to be a double edged sword. When I tell people that Larkin has DS I get the typical response of "she doesn't look like it". I can't explain it but it makes me feel funny. I almost become defensive in response to it. I see her characteristics clearly and I think all of your trained eyes see it. Sometimes I see it more then other times which I think is weird too.

When the docs were really pushing the mosaic part I became defensive and protective of her. It is what it is and just quit poking her. Barnes hospital then went around me and called my OB asking for her placenta. I had no idea until my doc told me that at my 6 week check up. He told them that he had thrown it away because there was no reason to keep it at the time. No one knew.

I digress....she is beautiful no matter what and it being mosaic has no bearing on the fact that she HAS DS. I have to follow the same rules as every other DS parent. Therapy and crap loads of doctor appointments. Oh and I still have to love the chunky monkey too!