Unique is the New Normal: Second Day in the Hospital

Friday, November 15, 2013

Second Day in the Hospital

Annabelle has been doing great! The pain medications she's getting are doing their job because the main reasons she is fussy seem to be that she is hungry or just wants to be held. She is sleeping well and tolerating feeds through her tube just fine. Keegan and I got lots of instructions about how to use the tube and all its associated equipment. Annabelle had a bath tonight and is quite the clean little princess with all her attendants bustling around to serve her. We should be going home tomorrow (Saturday), hopefully in the morning, though if there's paperwork involved, I wouldn't count on it!

1 comment:

UnknownNovember 15, 2013 at 9:31 PM
Yayyyyy! Good for Annabelle, she is small, but a tough warrior, though ;) Glad that you all will be home 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.