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Misdiagnosed with Trisomy 13 - Patau's Syndrome

Born: November 23, 1997

  Excelsior Springs, Missouri (MO) - Diagnosed at 3 yrs. T13
Genetic testing at 9 yrs. showed no Trisomy 13


March 15, 2008

Quick update as of March 2008 Alicias genetic testing came back that she does not have Trisomy 13 .The doctors are going to be doing more testing . and I will keep everyone informed.

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9-23-07

"I couldn't imagine life without her now ! I was also told she would never walk, sit up, crawl, or talk. Now she is walking running and just plain getting into everything, I wouldn't have it any other way."


Mom with Allie

My daughter's name is Alicia and she is a happy and healthy 9 and a 1/2 year old. Allie (her nickname) was a full term baby and we had no idea that there was anything wrong with her, I refused an amniocentesis. There were no problems with my pregnancy even though I was considered high risk due to cervical cancer when i was 18.

When she was born Allie was diagnosed with microcephaly, and choanal stenosis. I had to feed her out of a bottle that looked like a spoon because she couldn't breathe out of her nose. She also came home with an apnea monitor.

For the first 3 and a 1/2 months we were in and out of the hospital several times. At 3 and a 1/2 months old Allie had a seizure and was hospitalized, this was when I found out about her diabetes insipidus, aspiration and reflux, asthma, holoprosencephaly and the death sentence of trisomy13. We were told at this time that Allie wouldn't live to her first birthday. Well we have made it past that and then some, thank God.

I couldn't imagine life without her now ! I was also told she would never walk, sit up, crawl, or talk. Now she is walking running and just plain getting into everything, I wouldn't have it any other way. Allie is even starting to talk . She says momma, Bobbie (her older sister) and I love you. isn't that great! I thank God for every day I have with her. Her older sister Bobbie, even helps with her tube feedings and has fun doing it.

Marilyn Gartner

 


Bobbie with her little sister, Allie



 

 

Submitted: 9-23-07