Unique is the New Normal: June 2014

Sunday, June 22, 2014

Happy Birthday, Sophie!

We had Sophie's fourth birthday party at the pool today. She shared her party with two other girls from her class at school. Portia's birthday is today, and Sianna's is two days after Sophie's. It was cool and overcast, but the rain and thunder stayed away.

I had such a great time taking Anbabelle in the pool, chatting with my friends, and watching Sophie enjoy her friends and family.

I can't believe little Sophie will be four in less than two weeks!

Thursday, June 19, 2014

New Skills

Look what Sophie can do!

She has been very resistant to going underwater, but a little peer pressure from her best friend did the trick. She was so thrilled and had so much fun looking at everyone's legs and feet underwater.

Annabelle has also been enjoying the pool.

She loves to ride in her float, to suck pool water off the float (gross!), and to be bounced in and out of the water.

On Father's Day, she also tried out the swing,

the slide,

and Daddy's shoulders.

We are so thrilled that she is enjoying life more this summer than last summer, which was the Summer of Reflux.

Also, I caught her this week pushing her wipes box off the changing table and swiping her lotion off the changing table, giggling with glee both times. We are in so much trouble.

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.