[tri-med] Re: New with questions

So glad you are here to share Ryan with us. He sounds precious and although
each day has it's hurdles and mixed emotions, I'm sure that you are thankful
for every day you have.

Prayers and blessings,

Ruth, wife to Rudy, mom to Brendon (19), Scott (16), Joshua (13), Matthew
Rudy
(Full T18, born 09/13/01, and Rudy Matthew (born 08/13/04)
http://members.cox.net/t18mom

Lord as I face each new day, grant me power, perseverance, patience and
peace.

-----Original Message-----
From: tri-med-bounce@xxxxxxxxxxxxx
[mailto:tri-med-bounce@xxxxxxxxxxxxx]On Behalf Of BowdenCnS@xxxxxxx
Sent: Monday, November 29, 2004 1:44 PM
To: tri-med@xxxxxxxxxxxxx
Subject: [tri-med] New with questions


Hi everyone,
I'm kind of new here. I posted months ago about our son's prenatal diagnosis
of trisomy 14.  I sort of just lurked and then decided to just tune out
until
our little guy got here.  We weren't sure of what to expect since three
doctors were telling us that our baby wasn't going to survive long after
birth. We
expected the worst because the ultrasounds showed that our son was missing a
large portion of his brain, mainly the cerebellum area, and he wasn't
developing
normally. Ryan came into the world on October 17th. We had trouble breathing
at first so they put him on a vent and was taken to the NICU. He was off the
vent the next day, breathing on his own, and so began this new journey into
the
unknown. (Ryan is our second child born with a chromosome anomaly; we lost
our first son at 20 months old, 4 years ago).

Ryan has a partial trisomy 14, and from all the research I've done I can't
seem to find anyone who has quite as large duplication as he has. His
duplication starts from the top at p13 and ends at q 31.1.  I don't know how
valid this
is but our geneticist and several others have told us that they don't know
of
any child who has survived very long with this type of trisomy. I know they
all say that, but I can't seem to find anyone who has a similar duplication.
So
far, despite it all, Ryan is doing relatively well. The biggest problem he
has
is a large cyst on his brain that started in utero. It caused a large part
of
his brain to not develop. The MRI's paint a complicated picture of what is
and isn't there, so we won't know for sure how this is going to affect Ryan
until further down the road. The neuro has mentioned Dandy-Walker syndrome,
but
he's not sure if that's what it is or not. Either way,  Ryan might have to
have
shunts in the future, but we'll cross that bridge when we get there.

Physically Ryan has: very small mandible/jaw, very small eyes, possible
blindness in one eye, poor vision in the other, low set ears, possible
hearing loss
(he failed three tests in the nursery, a more detailed test is in the near
future), low birth weight (4.11 oz, but currently in the 5lb range),
bilateral
clubbed feet for which he is being casted weekly, large fontanelles, very
small
genitals, and an ultrasound couldn't locate his testicals.  He had to have a
g-tube placed because of his poor suck and swallow, possibly due to an
incomplete cleft palate.

Despite all of this, Ryan is a beautiful child. At first glance it's hard to
even tell that anything is even wrong. He makes the cutest expressions! He
is
a very fussy baby though, and is on medication to help with his prolonged
crying and agitation, although it doesn't seem to be helping much. He seems
to be
aware of what's going on around him. We are in awe of him, especially since
in
theory he "isn't supposed to be here".  We totally love this little guy and
even though the future is uncertain, we know he's a blessing to our family.
I
don't have any more time to write (he's crying!) but I just wanted to
introduce
ourselves and our newest little angel.

Stephanie


                  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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