Unique is the New Normal: Post-surgery Update

Thursday, November 14, 2013

Post-surgery Update

Annabelle came through her surgery fine and has been resting well all afternoon. She has been snuggling with both Mom and Dad and is very sleepy. She was able to drink some Pedialyte this evening. Tonight at 9 they will give her some formula through the tube. Too tired to write more now - it's been a long day!

Before:

After:

1 comment:

UnknownNovember 14, 2013 at 7:37 PM
We are happy to know everything went well. Looking forward to seeing you all very soon. Enjoy the good naps ;)
Love,
Portia & Blanca
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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.