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Personal Stories

Poole

5/22/2006

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Dana Point, California
We received Emilie's diagnosis after 17 long, frustrating months. I have to say that we were more relieved than upset when we received the diagnosis because it answered our "why" questions.
I had an interesting pregnancy with Emilie - different from my pregnancy with my first daughter. It wasn't bad, but it felt odd. I developed an irritating and painful rash in the 2nd month that went undiagnosed. I believe that my body was trying to tell me something. My AFP came back normal, and I did not have an amniocetesis. When Emilie was born one week early, the OB did not mention anything out of the ordinary to me. We did not see a pediatrician when we left the hospital.

Emilie had jaundice when she was born, and I took her to the doctor regularly to have the jaundice checked. I took her to all of her regular infant appointments.  Even though "things" seemed off to us, the doctors always said that Emilie was fine.  It wasn't until I saw a therapist because Emilie was delayed in speech and gross and fine motor skills that we suspected that there may be more to the story. At the suggestion of the therapist, I took Emilie to a geneticist where, after evaluation and tests, it was revealed that Emilie had Mosaic Down Syndrome. She immediately received more therapy and more options and resources were opened to us.  We love our Emilie. We consider her a gift and do not take her for granted.
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