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.
Do Not Worry
9 years ago