Monday, November 5, 2007

The Results Are In

I received a call today from one of the geneticists telling me that she had the results from the amino. They found that Ava has what is called Turner Syndrome. She believes this is the reason for the heart defect. I didn't learn too much at this time except that it only happens to girls and it is a missing X on the 46th chromosome. However, on one of her cells she is missing this X but on another of her cells she has an extra X, so it looks like this...45X and 47XXX. I honestly can tell you I have no idea exactly what this all means right now and probably will not fully understand it until we get a chance to talk to genetics. Ava should be able to function at each level normally, although she could have difficulty in math. She might not go through puberty and she most likely will be small in size. The average height for a girl with Turner Syndrome reaches 4'8". The doctors can start her on hormones to help with her growth. She could have some abnormalities in her features as well. I don't know at this point what all to expect. She did tell us that right now her heart is the big problem. It is really hard to explain everything, especially when I feel like I don't know anything. I will definitely update everyone once I find out more.

After I put Kaden to bed I will add a video of Kaden's new trick.


Anonymous said...

You are in my thoughts and prayers..Daily!! Take care and Just Believe! Love Whitney and the boys

kbarcus said...

I came across your blog this morning and there is just so much I can relate to, that I just had to post. My 3 year old daughter, Delainey, was diagnosed with Turner Syndrome in utero. Ironically, we discovered this when we were advised to undergo an amnio because they diagnosed her with hypoplastic left heart syndrome when I was 30 weeks pregnant. We live in Kansas City and all of Delainey's medical care is through Children's Mercy--another similarity. I would be happy to share any information I can about Turner Syndrome etc. if you are interested... my email is and my name is Kyla. Bless you all.. you are in my prayers.

Gabi's Mommy said...

You know dynamite comes in small packages, just ask Jason. Ya know 4'8" isn't so bad...that is exactly my height. I tell Gracie it's because I didn't drink milk:) Anyways, God will protect baby Ava as he did and still continues to do with Kaden. And I must say a lot of Kaden's strength comes from you and Nate. Kids sense these things from us and they fight hard to be with us. We continue to keep you all in our thoughts and prayers!!
Lots of hugs, love, and prayers:)
Sweet Dreams Kaden and Ava!!!

Isabella said...

Amy we are still praying. Those darn chromosomes!!! Isabella has a deletion on chromosome 22 (Di George Syndrome) which caused her heart defect. I remember learning about Turners Syndrome in nursing school but I don't know too much info about it. Just as Micah said know that God will protect Ava and just keep believing.

Mom to Rhett said...

Those silly chromosomes. I have a son with an exrta chromosome....(Down Syndrome) and a son with an extra X chromosome so rather than XY as a typical boy, he is XXY. (klinefelters syndrome). This one also has aspergers syndrome as well, which is a form of autsim.

Anyways, Know that you are in our thoughts and prayers. It isn't easy having two children with special needs. In fact sometimes I ask why alot.

But if you belive in yourself and leave all of the stuff that is out of your control up to God. Things will work out.

God Bless You.

Mom to Rhett said...

Thanks for the comment. I needed it.

I hope you are doing well. You are in my thoughts and prayers every day.