[tri-med] Re: New with questions

((((((((Stephanie)))))))))))))
  Welcome!!!!!  Although my son has been diagnosed with mosaic trisomy 8,
and he doesn't have all of the same problems as little Ryan, Me as well as
everyone else (I'm sure) will be here for you whenever you need it.
Congratulations on your little miracle and you will all be in my thoughts
and my prayers!! Take care!!!!
Belinda  mom to Justin Trisomy 8 mosaic
----- Original Message ----- 
From: <BowdenCnS@xxxxxxx>
To: <tri-med@xxxxxxxxxxxxx>
Sent: Monday, November 29, 2004 4:43 PM
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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