Before we had Conor’s diagnosis, I clicked a link that was floating around Facebook. That blog, Finding Cooper’s Voice, was real and raw and it hit way too close to home. To be completely honest, it scared me.
Since then, I have laughed, cried, sobbed hysterically, and grieved with Kate. I’m no longer scared though. Instead I have found great comfort through her writing.
Happy birthday, Baapa! We are so incredibly thankful for you.
“Call Baapa. Call Baapa. Call Baapa. Call Baapa. Call Baapa.”
Conor repeated this over and over and over (and over and over) while he paged through a book on the living room floor. He was stuck. This has started happening more lately and it always breaks me. As I stood there silent I couldn’t stop the tears from rolling down my cheeks again. I just wish his brain worked right, the thought swept over me again for the 100th time that week.
Conor was diagnosed with Fragile X Syndrome shortly after his second birthday. If you haven’t heard of Fragile X Syndrome, you aren’t alone. We had never heard of it either. I was surprised to learn that it is the most common known genetic cause of autism. It is inherited and mutates as it passes through generations. Eventually it reaches a point where a single gene on the X chromosome shuts down and fails to produce a protein vital for normal brain development. This leads to severe intellectual disability, learning and behavioral challenges, and often, an associated diagnosis of autism.
We spent the first year of Conor’s life marking every milestone, silently noting when he wasn’t reaching certain things “on time.” We spent the second year of his life in and out of doctor’s offices and searching the internet for answers. We spent this last year figuring out what his diagnosis of Fragile X Syndrome means for our family, fighting for every single step forward (and still spending too many hours searching the internet for answers).
Baapa was my grandpa, my dad’s dad. He passed away from lung cancer when I was 5 years old but he will always have a special place in my heart. I knew that my dad would be Baapa for my kids. I remember asking my dad if it was okay if we called him that when I was pregnant with Conor. I watched my dad fill with pride and knew that him and Conor would have a special bond. Nothing makes me happier than hearing Conor call my dad Baapa. It’s nostalgic. It’s full of meaning. It’s full of love. Plus speech wasn’t always a guarantee for Conor, so it makes it that much more special.
Every morning Conor asks if we can call Baapa. I usually tell him that it’s too early (which he happily repeats now). Most days end with a FaceTime call to Baapa where Conor sits silently, smiling from ear to ear when my dad bellows “CON-OR SHELL-UM” in his deep voice.
Speech has been a major milestone for Conor. We have been working with speech therapists on a weekly basis for over a year now. You know how Conor learned his name though? From my dad’s booming voice yelling, “CON-OR SHELL-UM” literally every time he has seen Conor over the past (almost) 3 years. Conor now tells us, “Baapa says, CON-OR SHELL-UM” in his own cute, not-so-deep voice.
We recently learned that my dad is a carrier of Fragile X. We are also learning that being a carrier comes with its own challenges, namely, Fragile X-associated Tremor and Ataxia Syndrome (FXTAS). FXTAS is a late-onset disorder and is said to affect about 40% of male carriers. It is a degenerative syndrome that severely impacts both cognitive and muscle function. It has been hard to think that this could cause challenges for my dad at some point down the road. Too horrible to consider at times. He means so much to our family, to Conor, that I can’t even imagine it being any different. I believe that Conor will continue to show us that it really is going to be okay though. Every morning with his big bright smile and happy request to, “Call Baapa” I’m reminded just how okay it actually is. He is happy. We can be happy too no matter what challenge tomorrow brings.