[tri-med] Re: Newly diagnosed Trisomy 18

Hi Rory,
I'm sorry that you have had to search out this site, but very glad that you
have found it. My daughter, Becky, 26 years old has Trisomy 13 mosaic so I
will let the T18 moms comment more on your questions. I do want you to know
though, that the prognosis for her is/was much grimmer (is this a word?) and
yet she is able to walk, climb stairs, ride a two wheeler, read and print
several hundred words, talks in sentences (and is very quippy I might add!)
has a terrific sense of humour, loves hockey, baseball, basketball (wept the
other night when our Raptors lost), NSync (especially Kevin) and loves to
sing. I will not tell you that it has been easy, it has been very hard,
especially the first two years, but Becky loves life, hard as it is
somedays, and we couldn't love her more. Some of the health problems that we
face today are ones that were not dealt with when she was a baby.
Have you contacted SOFT (Support Organization For Trisomy 18,13 and Related
Disorders) they have several wonderful little books (Trisomy 18 A Handbook
for Families, and Care of the Infant and Child with Trisomy 18 or 13) and I
wish that I had it right from the start. You can get it through Barb
VanHerreweghe 2982 South Union Street Rochester, NY 14623-1926 or do what I
did call: 1 800 716-7638 and ask for the Welcome packet. It has great
information. We'll be thinking of you.

Catherine, mom of Becky 26 (trisomy 13 mosaic), Allison, and Christine (&
husband Steve) with my two grandchildren Emily 4 and Matthew 2, and wife of
Paul the dependable in Kitchener, Ontario  Canada

-----Original Message-----
From: tri-med-bounce@xxxxxxxxxxxxx
[mailto:tri-med-bounce@xxxxxxxxxxxxx]On Behalf Of Rory Bell
Sent: May 25, 2001 2:53 PM
To: Tri-Med
Subject: [tri-med] Newly diagnosed Trisomy 18


Hi Folks

My wife is 27 weeks pregnant with our first child. An intensive ultrasound
revealed the very real possibility that our daughter, Caris has trisomy 18.
The ultrasound showed that Caris has suffered a diaphragmatic hernia which
is causing her stomach to grow in the chest cavity. This would also account
for the vast amount of amniotic fluid in the uterus. The presence of the
stomach in the chest has caused her heart to be displaced to the right and
stunted the development of her left lung. Her heart has, however developed
perfectly and would appear to be very strong. She also has the crossed
fingers, receding jaw and prefers to lie cross-legged.

An amniocentesis has subsequently confirmed our greatest fear. The probe for
Trisomy 18 came back positive and we await the full genetic testing results.
These will hopefully confirm the extent of what we believe to be a
mosaicism. We were told that the prognosis for this condition is very poor
with the vast majority of patients dying within the first few days of birth.

We are committed to carrying Caris to full term. The big question at this
stage is how much postnatal treatment/surgery we are willing to allow/offer.
We are told that the diaphragmatic hernia will need to be repaired soon
after birth, but that there is no point if she has trisomy. Much of the
reading I have done so far would seem to support this, with most suggesting
only supportive treatment. I was, however relieved to find this site and the
real hope that there seems to be for trisomy patients - although I don't
know that these cases are as severe as Caris'.

Anyone with a similar situation or knowledge of children with this extent of
trisomy?

Regards
Rory




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


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

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