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Old 03-05-2008, 12:49 PM   #4
jpgrant
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Join Date: Mar 2008
Location: Richmond, VA, USA
Posts: 1
jpgrant HB User
Re: my daughter is 15 years old could this be mosaic down syndrome?

It is NEVER too late to diagnose Down Syndrome. We believe that our 9-year old daughter has mosaic down syndrome - she has significant cognitive delays (but can now read and is learning simple math), had a ventrical septal defect in her heart at birth (although this closed on its own by 18 months), and has slight epicanthal folds around her eyes.

We have been through a myriad of tests - all have returned normal results. Extensive chromosomal testing showed no abnormalities, the MRI was normal, and the skin test they did for Mosaic down syndrome came back negative. It is possible to have a form of MSD that cannot be diagnosed, because the affected cells can be in parts of the body where you can not simply biopsy (brain, heart, etc.). With MDS, only a percentage of the body's chromosomes are affected - could be as few as 5% or as many as 90%!

Also - you cannot usually get any disability benefits for the mosaic form of down syndrome, because many who have MDS are able to function fairly well. The Social Security Administration has a whole section related to this. But that is the least of your worries I'm sure.

Have you been to see a genetic specialist at your local hospital? That should be the first step. They can do a simple blood test to see if any of her chromosomes are affected - also the skin test is able to diagnose many cases of MDS. It just didn't work in our case.

We started our daughter in special education at the age of 3, and it has made a huge difference in her life. We may never get a formal diagnosis, but I believe she does have MDS based on symptoms.

Please let me know if you have any further questions, and good luck to you.

Best,

Julia