[tri-med] Re: a second child with a trisomy?

I also chose not to do the blood testing this time, but, at the 1st 
ultrasound, the doctor saw what he thought was an AV Canal Defect in the 
heart and there was a clinodactyl finger on the left hand - together they 
are markers for a syndrome.  From there, we had a fetal echo done by a 
cardiologist at 24 weeks.  He also saw an AV Canal Defect, possible 
Hypoplastic Heart and hands in a curled position.  In addition, the three 
dimensional image of the ultrasound very clearly showed that this baby has a 
small chin and low-set ears.  I knew instantly from experience that I was 
carrying a trisomy baby!  The following week I had an amnio, which confirmed 
that Regan is a Full Trisomy 18.  I had another fetal echo done at 27 weeks 
on the better echo equipment at CCHMC and the official diagnosis of the 
heart was made - the heart is indeed hypoplastic and there is no AV Canal 
Defect.

While it may be very rare to have a 2nd Trisomy baby, I really didn't find 
it all that surprising.  I have a girlfriend who also delivered a 2nd 
Trisomy 18 child just this past summer.  Her first 18 was miscarried in the 
2nd trimester a year or two ago and her second 18 died in utero two days 
before her due date.  Her second baby also had hypoplastic heart syndrome. 
Because I am 46, it is far more likely that I am having a 2nd 18 due to old 
age than the possibility that it is inherited from a balanced translocation. 
My girlfriend is younger but still over 35, so the same could be true for 
her.  Truthfully, I think there are more trisomy babies than we realize. 
It's just that most of them result in miscarriage before anyone gets a 
diagnosis.  I personally believe it is random and seldom inherited, but that 
the chances are also greatly increased by the age of the mother.  I have 
been advised by geneticists that it is actually very rare that the result is 
from any inheritance on the part of the mother.  The cause doesn't really 
matter, however, I am happy with whatever child God gives me.  Worrying 
about the cause doesn't help me.  I accept the outcome because all of our 
children are wonderful no matter whether they are special needs or not.

Yes, it is a lot more work to raise a special needs child, but the joy is 
also magnified.  And we CHOSE to adopt a child with special needs when we 
acceopted our referral for Jillian Yun Ping.  We know she has an underlying 
chromosomal syndrome because all the markers are there (low set ears, heart 
disease, hypotonia, long fingers, flat nose, global delays, etc.), but 
current technology can't determine what it is.    My husband and I believe 
we have great kids no matter what and we wouldn't trade our special needs 
girls for anything in the world.  It's a difficult life, but even more 
rewarding when one of them meets a goal.

Every child's life has a purpose-
Aimee in Cincinnati, Ohio  (USA)
(wife of Bob; mother to Rachel (full T-18) 4/18/01, Jillian Yun Ping 
6/18/02, Ian 7/31/03)


----- Original Message ----- 
From: "karen thorsten" <karen7458@xxxxxxxxx>
To: <tri-med@xxxxxxxxxxxxx>
Sent: Tuesday, December 13, 2005 11:05 AM
Subject: [tri-med] Re: a second child with a trisomy?


> I'm curious .....How did you find out that the dughter
> you're carrying now has Trisomy 18?
>               Karen


                  Building ___ooOOoo__ Rainbows
                       www.trisomyonline.org
                  Families Helping Families On-line

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