Unique is the New Normal: Surgery Is Over!

Thursday, February 13, 2014

Surgery Is Over!

Annabelle came through her long surgery today and is doing well. She went back with the anesthesia team around 9:20, and I was able to get some breakfast. Keegan arrived and took over waiting while I got a shower and a nap. Keegan and I had a nice lunch and quiet afternoon, and we finally got to see Annabelle around 4. I held her for a while, but she was very sleepy all evening and was asleep when I left to get some sleep. The doctor was very happy with how the surgery went, which is very encouraging. She has started receiving some Pedialyte through her feeding tube. She has a catheter in, so we don't have to worry about diapers for a while. Tomorrow we may start with formula again. I will let you know how it all goes.

2 comments:

EmilyFebruary 14, 2014 at 6:35 AM
I'm so glad everything went well! Wishing Annabelle speedy healing! Much love from us!
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LauraFebruary 14, 2014 at 7:53 AM
Sounds like it is all going pretty good so far. Hope today is a good day for little Annabelle. Sending hugs, and love your way.
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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.