CHROMOSOME 22 CENTRAL 
SUPPORT FOR ALL CHROMOSOME 22 RELATED DISORDERS 

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William

DOB: 08/28/02

EMANUEL SYNDROME 
Unbalanced 11/22 translocation

Mom: Mary, from Georgia

On August 28, 2002 our son William was born , 7lbs 2 oz and 19 inches long. he looked perfect. No physical abnormalities present, but I knew that something was wrong. A mother's instinct I guess.  I told the nurses before we left that second day  - they said I worried too much - take him home and enjoy him. So we did. On the third day he has some breathing difficulties and we took him the the ER. They said that it was Traceomalacia - the rings were not formed and they put him on a home breathing machine. He require steroids to boost his lungs. He was even put in the hospital twice in a breathing tent. I remember one of the nurses holding him during one of his arching fits and saying this was not normal. For a month we tried telling his pediatrician about these episodes, but he would never do it in the office. At one time I was told I worried too much that I was doing this to him. At 6 months I visited my family in Oklahoma who noticed he was not sitting up and they made a comment that he may have a chromosome abnormality. I thought they were crazy. By 10 months he learned to roll over and at one year they misdiagnosed him with cerebral palsy. I was not satisfied with this and took my son to a geneticist who tested myself and William. We suffered a miscarriage shortly before the visit, with the child that we were carrying at the time. Two weeks ago we could out that we do have this translocation disorder in our son and I carry the balanced translocation. 

I'm so scared of becoming pregnant again. Our son is 13 months old almost and is sitting unassisted when you sit him up. He loves watching Baby Einstein and Rolly Poly Ollie. He is gorgeous and we love him very much.

Written by "The mom"

Mary

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