New neurosurgeon and genetics

I got a call in the beginning of April from the geneticist that saw Carly when she was first born. They did a full genetic screen on Carly and since I never heard back from then I never gave it a second thought. Well they called to let me know that her chart had gotten misplaced and that they found a mutation with her genes. They said she has Chromosome 15 Duplication Syndrome and that Thad and I needed to be tested to find out if it was inherited or a mutation during development. With C15DS children can development Thad and I were tested and it turns out that it is a mutation. So now we just follow her and they try to find another child like her.

MRI in April

After Carly's MRI in March we saw her neurosurgeon's NP. The MRI and recovery took longer than planned and we were late for her appointment. The NP wasn't happy and was rude but she still saw us. Her Chiari hasn't gotten any better or worse but her shunt is over draining and she has slit vents. The NP said that we could put an anti-siphon valve in and let her body do most of the work. She said some other stuff and I can't really remember what it was but after leaving I did not feel satisfied. After telling Thad about what happened we decided to get a second opinion. We saw the Dr that we tried to see when I was pregnant. He was amazing! He decided that we would watch her and see how things go. He increased her pressures and told us to keep a log of headaches and night wakings. So now here we are, waiting to see what happens. Hydrocephalus is a waiting game. A CRUMMY waiting game.

Little gymnast

We started Carly at The Little Gym once a week to do a gym class. She LOVES it and it has helped her coordination so much. The interaction with other kids has been great for her too. We are working a lot on gaining strength, especially in her legs hoping that it will help out with her ankles. Her speech is even improving. She loves singing at the end of class and going to get her stamp. I am so happy with the progress that she is making.