Tuesday, February 26, 2008

Memories from the fragile x trenches

I sort of lifted this idea from Beth at Fragile What?. She is going to start sharing memories from her life with kids with Fragile X. I thought it was a great idea and decided to steal it.

So, here is one of mine:

In 2002, we were surprised to learn that I was expecting our second baby. We knew that any child I have has a 50% chance of having Fragile X. My obstetrician offered to do testing, which we turned down. We did go for a level two ultrasound. They said there were some markers they could check. (when Drew was in-utero, ultrasounds showed that he had dilated ventricals in his brain) We had the ultrasound and they said they thought it was a boy and that everything looked normal. At later ultrasounds, my doctor said he thought it might be a girl. We didn't put a whole lot of stock in what this doctor said, as he is notorious for gender predicting mistakes.

Blake was born (A boy!) after a relatively quick labor. He had an indent in his chest. His hip had a click. They referred us to a specialist to have an ultrasound of the hip done. We quickly learned that he also had reflux. Honestly, when I saw the hollow chest, I felt sure that he had Fragile X. The other things confirmed it in my mind.

Around that time, we had Drew enrolled in two different Fragile X Studies. One was in Kansas City with Dr. Jennifer Hill-Karrer. We were going out every four months to have Drew's brain waves recorded. She had told us when I was pregnant with Blake that when he was born, we could have him tested as a part of their study. He was probably about two months old when we flew out there to have him tested. There was a delay in getting the results because Dr. Hill-Karrer's husband had been ill, and she was away from the office. Finally in August, she called me one night and told me that Blake did have Fragile X Syndrome. This didn't come as a big surprise to me. I already felt certain that he had it. Ironically, I remember that the night she called was the first night he rolled over. He was four months old at the time. Eric was in Canada on a fishing trip. I had to wait until he came home to tell him. He wasn't too surprised, either. With Drew, it had been a huge blow, as we had no idea there was even a chance of it. He was enrolled in Early Intervention immediately.

More memories to come....


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