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Welcome New Memeber Nathalie

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Good morning everyone! I'd like to introduce our newest member, Nathalie,

and her family. You'll find Nathalie's introduction below. So, let's all

give her our special welcome! Her e-mail is: mailto:nat373@...

Welcome Nathalie...I look forward to getting to know you and your family,

especially Naomi, better! Thank you for your wonderful introduction...now

make yourself at home, this is an absolutely fantastic group of parents and

members...feel free to ask away!

Bree

Mommy to (MDS), 4 months old, and 3 siblings

MDS Listowner

Owner of: http://www.mosaicdownsyndrome.com

****************************************************************

Hello Bree and all others:

My name is Nathalie, wife of Mark, and mother of (5 yr), Naomi

(MDS, 32 mos), and Anne (8 mos).

I did not know that Naomi had any kind of DS until the day she was born,

as I had not had an AFP test or amnio. I had had one ultrasound, that

showed nothing unusual. Naomi was born with a heart defect, AVSD, for which

she had open heart surgery at 3 months and 5 months also. She was tested a

few days after birth for DS, and we got the result about 2 weeks later. The

results showed that she not only had Mosaic DS, but she also had

translocation DS. The geneticists at Yale Children's hospital found it so

unusual that they did the test twice to make sure. The found that 1/3 of

the cells tested were affected by this unusual DS. They had never seen a

case like hers.

I am so glad to find a site dedicated just to mosaic DS. I am looking

forward to meeting other parents and adults w/MDS----have a great day!

Nathalie

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