[tri-med] Re: newbie/neural tube defects

Hi Becca...and congratulations :o)
Devon is our little man with a little something extra...he has t13 too :o)
He did not have any neural tube defects...nor did he have any heart or brain
anomolies...however...upon his birth and my discovery of a cleft palate...a
renal ultrasound was done when he was a day old. After that everything kind
of snowballed. When the radiologist read his ultrasound panic ensued.
According to the doctor, his kidneys were covered in cysts...and poly cystic
kidney disease was suspected...another lethal condition that would require a
transplant which was highly unlikely to happen. He was airlifted to Shands
teaching hospital where his ultrasound was read by a specialist...guess
what? Not a dang thing was wrong with his kidneys...what they were seeing
were pockets of air on/in his kidneys...something we were told was quite
common with infants. Of course Devon was found to have that extra little
pesky chromosome 13...a definite crimp in our hallmark baby experience. I
guess my point is that sometimes what is seen as significant on an
ultrasound is not always the way it actually presents at birth. I would
emphasize that you expect an unbiased evaluation/assessment immediately upon
birth (in other words do the eval as if they had not evaled him before
birth). Anything is possible...

Love,
Penny...loving & devoted wife to Joe, the best husband in the world...mom to
Nick (15 yrs old...lover of Fishing, Dragons, Turtles, Blue Collar Comedy
Tour, RollerCoasters, Chocolate Icecream w/ Ovaltine sprinkles, Devon (11
yrs...lover of Barney, Blue, Nappy ol' Bear w/dreadlocks, Pooh, Elmo, & food
in general. Full trisomy 13 w/balanced translocation 5 and 13) , and Trooper
the Wonder Dog...our 9 ? year old yellow lab adopted from FL Lab Rescue
12/13/02 :o) Please visit the webpage my wonderful friend Karen made for me
on our trisomy listserv at:
http://www.trisomyonline.org/victor.html      
AND...Devon's moment of glory in Exceptional Parent Magazine...
http://www.eparent.com/familiarfaces/ffaces_4_01.htm
AND...see our Trooper on FL Lab Rescue's website at:
http://www.labradorrescue.net/success/index.html (Look for the name Trooper)
AND :o) http://livingwithtrisomy13.org/album9.htm
AND http://web.coehs.siu.edu/Grants/TRIS/
"Normal people worry me"

-----Original Message-----
From: tri-med-bounce@xxxxxxxxxxxxx [mailto:tri-med-bounce@xxxxxxxxxxxxx] On
Behalf Of Rebecca Leonard
Sent: Thursday, October 26, 2006 7:36 PM
To: Tri-Med@xxxxxxxxxxxxx
Subject: [tri-med] newbie/neural tube defects

Hi everyone,

I have been lurking about for a few days and wanted to introduce myself.  My

name is Becca, husband is Larry, we are expecting our first child <insert 
name here> who is 23 weeks along.  He was diagnosed with full Trisomy 13 at 
20 weeks.  We fully believe that God knit this child together in my womb, 
that he is fearfully and wonderfully made, and that God has purposed this 
for us, our little boy and for His own glory.

As we are learning more and more about this diagnosis I am so appreciative 
to have you all as resources!  We've met with a dysmorphologist and genetic 
counselor, and understand that with the nature of the defects our boy has, 
his prognosis is bleak...but I am certain that you all received similar 
news.

My question for you all is: did Trisomy of any number result in spina bifida

in any of your children (or grandchildren, nieces, etc)?  I have read lots 
of stories and have not seen one mention neural tube defects.  Our little 
one has quite the uphill battle with a severe case of spina bifida, in 
addition to his heart defect (currently labeled as "suspicisious HLHS with 
VSD" and possible common truncus arteriosis -- we will see a pediatric 
cardiologist in a few weeks to further assess the heart condition).  His 
cleft lip and extra digits of course are the least of our worries!  : )

We made it very clear from the first sign of anomolies that we would not 
terminate.  SO FAR, the medical community has been very supportive, easy to 
work with, and efficient.  My understanding from them is that his condition 
is "severe" (as if they aren't all severe).  As we start to consider after 
birth care, we are trying to guage for ourselves if they are just trying to 
paint a very true and realistic picture, or if they want to keep from giving

us false hope, or...??

We will be very happy if our little trooper is born alive, and plan to 
cherish every second with him.  But for now we will enjoy him in his little 
aquatic wonderland of my belly.

Any insights you all have are appreciated!

Becca
"Do not worry about tomorrow for tomorrow will worry about itself. Each day 
has enough worries of its own" (Matt.6:34)

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

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