[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

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