Unique is the New Normal: August 2014

Sunday, August 24, 2014

What We Did This Summer

Tomorrow Annabelle will be sixteen months old, so stay tuned for some photos and an update later this week. It has been a busy and exhausting summer, so I'm sorry that I haven't kept everyone up to date. Here is a quick update on what we've done:

Ate dinner out for Sophie's birthday.

Ate decadent chocolate cupcakes at our dear friend and former babysitter Miss Jane's wedding.

Did lots of fun crafts at the library.

Read books together.

Visited Keegan's cousin and her family at Topsail Beach.

Took a trip to Busch Gardens with cousin Sammy.

Visited the doctor - but at least we had a smile while we were there!

Rode Sophie's birthday bike, complete with doll seat and chalk holder for making chalk trails.

Played at the neighborhood playground. This is Sophie's impression of a summer snowman!

Picked blueberries (and did lots of other things) with Sophie's best friend Portia.

Watched TV together.

Took ballet for the first time.

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.