Meet Isabella
Page Creator: Kristy Colvin
Page Closes: Jul 6, 2009
Team Name: Meet Isabella
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Isabella Johnson
About my nonprofit:
International Mosaic Down Syndrome Association International Mosaic Down Syndrome Association
International Mosaic Down Syndrome Association is designed to provide support, information and research to those touched by mosaic Down syndrome.

IMDSA also strives to increase awareness in the medical,...

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Isabella played the part of "Young Hannah" in Mystery Diagnosis. Isabella had her own Mystery Diagnosis as well when she was diagnosed with mosaic Down syndrome and Triple X syndrome at 10 months of age.

 

Meet Isabella

 

Isabella was diagnosed at ten months of age with mosaic Down syndrome and Triple X syndrome due to her mother's insistance. Mom, Sue, noticed her pupil did not dilate in one eye at four months of age and she also kept questioning the smallness of her daughter's head.  Finally at 9 months of age she was referred to a Geneticist. 

 

Sue recants her experience:

 

"The genetic doctor also thought I was crazy, but to put my mind at ease they said they would run some tests. I got the phone that every mother would dread a month later.  They said my daughter had Triple X syndrome and mosaic Down syndrome and instructed me to come into the office as soon as possible.  When I arrive there I was told they did not know what to tell me because they have never seen nor heard of the combination of the two of these disorders together.  They did not know what her delays would be and suggested that I see the Down Syndrome clinic in Pittsburgh and also to follow up with them yearly for the Triple X.

 

I am happy to say Isabella is now 27 months old and she is not showing any delays except for speech.  

 

Sue Johnson


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