Saturday, October 4, 2008

On Mosaic Down syndrome

One of the beauties of the world of Down syndrome is the friendships that are formed. I have mentioned before that the bond that we have as parents is very unique and very special. Strangers soon become friends.
Just a few days ago I met a new friend, her name is Kristy. She knows so much more about Mosaic Down syndrome than I will ever know! I asked her if I could "use" some of her knowledge and share it here since after my first post, there were a few questions about Mosaic Down syndrome.

Here is what she had to say:
(MDS stands for Mosaic Down syndrome; Ds stands for Down syndrome)

"The majority of people with MDS do experience all the same developmental and cognitive delays as a person with Ds. The only difference is, they sometimes reach a milestone (like crawling and walking) a few months before a child with Ds.

The exception to this rule is that children with MDS are more delayed in speech than their peers with Ds. And, we are finding a large majority of them with Apraxia. (a speech condition where the child began talking and then stops and uses no words or very few)

Also, because people with MDS have a percentage of Trisomy 21 cells in their body, they have the exact same risk for all the same health conditions as a person with Ds.

And, as you said, many do not have the physical characteristics as one with Ds, or those characteristics are just not as prominent.

Also, research suggests that up to 4% of those with Ds have MDS. In actuality, this number is much higher. There are many who are misdiagnosed with T21 who actually have MDS. In a recent independent study done by International Mosaic Down Syndrome Association 75 families were asked how they received their diagnosis. Of those 75--15% were first diagnosed with Trisomy 21 Down syndrome. This misdiagnosis and those who go undiagnosed would bring the number much higher than the outdated research states.

I hope this has helped some to explain about mosaic Down syndrome.

I am the mother of a 22 yr son with MDS....
The president and co-founder of International Mosaic Down Syndrome Association....www.imdsa.org
And, I write a daily blog on mosaic Down syndrome and Down syndrome called Mosaic Moments. www.mosaicmoments.today.com

Oh yeah.... One more "tidbit"...
There are actually FOUR different kinds of Down syndrome...

Trisomy 21
Translocation
Mosaic
Mosaic Translocation

http://www.imdsa.org/Information/mdsfacts.htm "


Thanks so much Kristy!

And if any of you have any more questions, I am sure Kristy would love to have you stop by her web-sites. Her blog is wonderful! She has so much information and lots of touching personal stories of different families, including her own.

1 comment:

  1. Thank you so much Ellen for including this information on your blog and your kind words. I am always glad to add new members into my family!

    ReplyDelete

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