[tri-med] Re: Partial Trisomy 5q

----- Original Message -----
From: "Pamela Padgett" <padgettcastle@xxxxxxxxx>
Subject: [tri-med] Partial Trisomy 5q
 She is currently 15 lbs, 15 oz at 13 months old. Last month diagnosed with
Failure to Thrive after gaining only 8oz in 2 months.


HUGE welcome Pamela....Genevieve...and big sisters too :o) I'm Penny...wife
to Joe and mom to almost 13 yr old Nicholas and 8 yr old Devon. Devon has
Full Trisomy 13 w/balanced translocation 5 and 13.  About the closest I can
get for ya on the karyotyping is that our (I'm a carrier for the same
balanced translocation that Devon has) breakpoint on our #5 is also q31...at
least one of them is :o) Devon's Cytogenetic DX reads as follows:
47,XY,t(5;13)(q31;q12),+13. Mine reads: 46:XX,t(5;13)(q31;q12). The above
weight doesn't sound so bad to me either :o) Devon only weighed 15 pounds at
a year...and our doctors looked at it slightly differently...if Devon was
gaining...no matter how slowly...then he was growing and that was all that
was important. And incidentally...he now weighs 52 pounds and is right at
about 4 ft tall...and WALKING :o)




>>. We began sign language and she signs 'more', at everything.


Devon uses sign too..."More" was also his first sign...only he didn't learn
it until he was about 2 :o) His main way of communicating presently is PECS
(Picture Exchange Communication System). In other words he exchanges a
picture of cookies for a cookie...picture of a glass of juice for a sippy
cup of juice...picture of a school bus or backpack to illustrate that he's
going to school...he gives us a picture of Trooper (our dog) when he wants
Trooper kisses.....and the list goes on and on ;o) He does verbalise and is
verbalising more and more...making word approxiamations...sounds that sound
very similar to the word he is trying to say.


 Genevieve has a very high palate which causes food to get stuck and she
gags and vomits, which doesn't help the weight gain.


Devon has an extremely high palate too...he had a cleft in his soft palate
at birth that was fixed at 9 months. He does have dysphagia (aspiration
issues)...but with alot of oral motor therapy and the use of thick it in all
his liquids he has overcome ALOT of it...he eats and drinks orally and does
quite well :o)


>
> Speaking of vomit issue, I cradled some in my arm tonight en route to
bathroom as holding her and haven't stepped on no wet spots on carpet : )
Last week was able to capture it in her baby food jar, capped it and tossed
it.


VERY IMPRESSIVE Pamela :o) I've gotten so i can recognize the signs when
Devon is going to be sick...he likes to surprise me every 4-5
weeks....usually while in a sound sleep on the couch...he starts fidgeting
and working his mouth a certain way...all the while sleeping...and
occasionally getting up and fussing and changing positions and going right
back to sleep. But if he starts this behaviour I run out and get a plastic
basin and sit next to him and position it and catch the projectile as he
starts vomiting out of a sound sleep :o( I'm pretty good at recognizing the
signs...and catching it all too :o) But in a pinch I have also caught it in
the crook of my arm or in my cupped hands...only not nearly big enough cup
:o)
>

I look foward to hearing more Pamela...take care :o)
Love,
Penny...devoted wife to Joe and "Mom" to Nick (12 yrs...lover of fudge,
rollercoasters, Harry Potter, Yu-Gi-Oh, Fishing, Legos, Popcorn Chicken,
Pizza, cheese sticks, chocolate icecream w/ovaltine sprinkles) and "Mommy"
to Devon (AKA-Stinky Boy, The Chief or Devonrude...Lover of Bear, Elmo and
the Muppets, Barney, Blue, M&M's and food in general, 8  years old (6-15-95)
!!! Full Trisomy 13 w/balanced translocation 5 and 13)...Trooper...our newly
adopted child (our infinitely patient and loving 3 year old male yellow
lab...adopted into our family 12/13/02 :o)...KC (the feline child...Brat
gained her kitty wings 7-09-02 she was 16 years old +), Snitch and Lil' Dude
(Nick's turtles :o)
:o) DeLand, Florida
Meet our family at http://www.trisomyonline.org/victor.htm  (Compliments of
my dear friend Karen!
And last but not least, check out the homepage I made!
http://www.geocities.com/penvic4/Penny_sPage.html
The stone that was rejected by the builders, has become the cornerstone
(Psalm 118)

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

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