Unique is the New Normal: My Girls the Movie Stars

Thursday, May 22, 2014

My Girls the Movie Stars

The girls have been extra adorable lately, so I wanted to share some of their antics.

Annabelle is getting more and more engaged with her world, especially with her beloved birthday balloon.

She is also starting to understand that she can imitate (and maybe even communicate through?) gestures, which is so exciting I can barely stand it.

Not to be outdone, Sophie has been really into music lately. She and her friend Portia treated us moms to a concert yesterday.

All this activity is exhausting!

2 comments:

Rachel MurrayMay 22, 2014 at 8:46 PM
I love Annabelle shaking her head yes and no! That is so cute and really awesome developmentally.
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chrissyMay 23, 2014 at 7:12 PM
These are so adorable! There is nothing like a mylar balloon to keep our sweeties occupied. :) I think you are going to have a sign-language using Annabelle pretty soon.
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About Annabelle's Genetic Disorder

Annabelle has what is called an unbalanced translocation. That means that material (i.e. genes) from two chromosomes has gotten switched, and some material has been lost and duplicated in the process. In Annabelle's case, she is missing some material from chromosome 21 and has some extra material on chromosome 4. Because the material on chromosome 21 is mostly "junk," it is unlikely to affect Annabelle's development. But the duplication of the entire short arm (called the p arm) of chromosome 4 will have some effects. For that reason, her diagnosis is that she has Trisomy 4p, even though the full picture is more complicated than that. Trisomy means an extra copy of material. There should be two copies of each chromosome, so an extra copy makes three, thus the "tri-". Down's syndrome is also a trisomy, because people with Down's syndrome have an extra copy of the entire chromosome 21. Trisomy 4p is associated with developmental delays, learning disorders, and respiratory and joint problems. I've also learned through a wonderful trisomy 4p group on Facebook that it is associated with wonderful, wild thick hair and an adorable snubby 4p nose.