[ Post a Response | Trisomy 22 and Misc. 22 Interest Board ]
Posted by A Concerned Father --Previous Message--
on 4/28/2004, 11:55 pm, in reply to "Re: My Niece"
65.146.26.73
Hi Deborah
We had a son on 4/19 and it was diagnosed with the same case. They took him off the ventilator and he has survived till today. Wanted to know your experience after 4/7.
: 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.
: Thanks
: Deborah
: --Previous Message--
: : : : : 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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