[ Post a Response | Trisomy 22 and Misc. 22 Interest Board ]
Posted by Deborah Bryant
on 4/7/2004, 1:52 am
172.134.32.45
My sister gave birth to her first child on April 1, 2004. She was born with Pierre Robin Sequence, and the pediatrician also thinks she has Trisomy 22. She has a cleft palate, but the nose and lip are normal. She has periaricular skin tags and pits to both ears, the left ear almost looks normal, but the right one is not shaped right. she appears premature, but I was with my sister when she took her pregnancy test, she took one on a wednesday that was negative, then the next day she took one and it was postive. Pregnancy progressed without problems--all of the ultrasounds were normal. AFP was negative. I have looked at her hands, and they seem normal, and there are no simian lines. Her feet seem okay except they are large, and on the left foot her 3rd and 4th toes overlap. she has a webbed neck, she only weighed 5 pounds 10 ounces. Her left eye seems to be a 'lazy eye.' So far, she has had a head CT scan which was normal, an ultrasound on her kidneys, liver, spleen, pancreas, and gallbladder that was normal. Her anus is patent, but it is anteriorly placed. Echocardiagram showed a slightly enlarged heart and pulmonary hypertension. The genetecist has done bloodwork to determine if she has other disorders besides the Pierre Robin Sequence, but we will not have those results back for a couple of weeks. I was wondering if anyone out there has a baby that has the same signs and symptoms, and was positive for trisomy 22, because when I read the list, she has some of the signs and symptoms, but not all of them, I don't know if she has a milder case of it, or maybe they are looking in the wrong direction?? My neice is doing better since birth--she had to be put on a ventilator, and is in the NICU. They are currently trying to wean her off. Any information anyone could give would be greatly appreciated. We are so truly blessed to have such a special baby, and are so grateful she is getting better, we just want to prepare ourselves for what the future may bring, and how all the family can help my sister with the baby's care. Thank you! 
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