[tri-med] Re: New with questions

congrats on your new little guy.  i am sure he is quite beautiful
pam darrell ,tyler my new t13 angel and kira 2.5
elora ontario----- 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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