Perhaps one of the worst things you can do as a new mother is compare your child to all of the other children around you. I am a worrier by nature (thanks, mom) so of course I am the queen of comparison. As Conor approached his one year mark, I started to notice that he was falling behind his peers. By the time he had his 18 month check up, Keith and I were asking our pediatrician for a formal evaluation. We figured we didn't have anything to lose.
At 20 months Conor was diagnosed with a global developmental delay (GDD) and low muscle tone. We started speech therapy and continued taking a weekly gym class with Conor to help build his muscle tone and gross motor function. The progress he was making was extremely encouraging but we continued to worry about why he was delayed and what it meant for his future. In an attempt to find more answers, we got another referral from our pediatrician. This time we were sent to a genetics clinic.
On Monday, February 19th, 2018 we got a call that would forever change our lives.
"Hi, I am calling from Children's Hospital and I am trying to reach one of Conor's parents..."
From that moment on, what we knew as a delay was suddenly a genetic mutation known as Fragile X. You may not have heard of it...we hadn't. And there is still so much we don't know. So much we can't know. Even after meeting with the genetic counselor there are a lot of unanswered questions. What we do know is that Fragile X causes significant intellectual deficiencies and chances are high that Conor will never be independent, will never drive, will never marry or have a family of his own. Some with Fragile X never even potty train.
Because boys only have one X chromosome, it has a greater chance of affecting them, but it can affect girls too. Chances are high that the girl I am carrying is at least a carrier of Fragile X, and if she is, she may not choose to have children knowing the high risk of passing it on. Right now, this actually feels like the best case scenario because there is a chance that she has the full expansion like Conor and would also need support services for the entirety of her life.
I am struggling. I am struggling reading about mothers who change their 9 year old's soiled diapers. I am struggling seeing pictures of the physical changes that come with Fragile X and puberty. I am struggling shopping for a plastic mattress because a "big boy bed" has suddenly taken on a new meaning.
As the initial shock has worn off, I grieve. I grieve hardest at night when the silence becomes too much to handle. I know that we will be okay though. Conor will be okay. He is so loved and that will never change. I just need to grieve the normal that I knew. He is fragile but he is not broken.