Thursday, September 4, 2008

Lost in Translation

For those that don't know, we are expecting our third child in December/January. It will be the third little girl. We are looking at the name Ashley Nicole Maughan (still debating whether the spelling should be Ashley, Ashli, Ashlee, or Ashleigh).

Also for those who don't know, when we went in for the morphology (cool word)--the second one, my kids never cooperate the first time--- the doctors were concerned because they couldn't get a good picture of the lower jaw. So we were sent to a specialist office. They did the ultrasound...again my child was not cooperative...but they still couldn't get a good picture, and what they could see concerned them (they couldn't see lower jaw development and there was a bright spot in the heart). So the did an amneocetisis (another cool word--don't hold me to the spelling!) and said they'd do a chromosome test and have us come back for a 4-D ultrasound (the really cool new technology thingamagiggy that lets them have a great picture of the little tyke).

We got the call last week with the initial quick scan results and everything was fine. Today we got a call about the initial final test results (if that makes sense to you, please--explain it to me!). There is an abnormality. Here comes the Lost in translation part....
Trisomy of chromosome #6..... yep..Jeffer learned a new word...doesn't like it very much.

My understanding of what it means at this point...Chromosome #6 apparently duplicated itself, reversed, and then attached the duplicate to #3.

What this means.....Worst Case scenarios for Trisomy of #6 is that the fetus miscarries fairly early in the pregnancy. We are past that stage. For us...the possibilities are stillborn, major deformities, death shortly after birth or sometime before adulthood, physically fine but with learning disablities, or a fairly normal child. Basically, there isn't enough information yet in my head to explain everything.

So tonight Cari and I went and had blood drawn for a genetic test. I guess to determine if I really am a mutant. And then the test results will be given to us when we go in on the 24th for a genetic counseling and the 4-D scan.

So...if you will, please include us in your prayers. If nothing else...pray that I will be able to have translation of the med speak. But a little help with the patience thing would be great!

Our other two rugrats are doing great. They love the song Old McDonald...and it usually turns into a giggle fest-Dad is just too good at making animal noises! DAD (specifically JEFFER!!) IS THE BEST!!!!!

Good night. God Bless.

2 comments:

The Firths said...

We'll keep you in our prayers!

Please keep us posted

Sam Ransom said...

Oh how crazy and hard to understand. I will definately keep your family in my prayers.