[ Post a Response | Trisomy 22 and Misc. 22 Interest Board ]
Posted by Deborah Bryant Thanks --Previous Message--
on 4/7/2004, 2:40 pm, in reply to "Re: My Niece"
172.147.13.29
Thanks for responding. the Genetecist was by to see my sister today and he also thinks it is Trisomy 22, but we will not know what form until the bloodwork comes back, if she has it at all. She is in a good hospital--Shands in Florida--and everyone there has been wonderful and are taking good care of my niece and my sister and her husband. I am scared for my sister because I just don't know how much more bad news she can take. She tried for 15 months to get pregnant, and now her baby is so sick. They decided to wait to take her off the ventilator for another day.
Deborah
: :
:
:
: Deborah....Congratulations on the birth
: of your neice. My son has trisomy 22
: (22q12.1 duplication) Unfortunately
: sometimes very rarely very few
: (symptoms) will appear but as the child
: gets older they are certainly more
: evident.....The Genetecist will find
: what (if any) thing else is wrong. Are
: you near a Good Children's Hospital? I
: am here if you need me for anything!!!!
: God Bless and Take Care.....Mechille
:
:
:
: --Previous Message--
: 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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