In July 2019, we took Jackson to his Autism Screening. This appointment was slotted to last 3.5 hours. As a kiddo under 2 years old, having him cooperate for 3.5 hours seemed impossible, but he did incredible. The screening was all play based between him and his doctor. As a parent, it was the longest 3.5 hours of my life. My mom and I sat in the room during the screening and were instructed to not speak and basically just sit and observe. If he came to either of us we were not to ignore him, but really try to redirect him back to the toys or his doctor. It was incredibly hard to not talk to your child or help him. There were a few times we wanted to help him put a shape into the shape sorter or wanted to applaud him or give him affirmations, but had to refrain. So hard!!
At the end of the grueling 3.5 hours we sat and waited for the doctors to compare their notes and give us their diagnosis. “At this time, I cannot say he has Autism.” “His eye contact and communication skills are really incredible.” Ok, but then what could be going on??
We talked some more and the doctor mentioned me being adopted and started to talk about genetic testing. It was at that moment that I blurted out, “I am a carrier of Fragile X. I have 78 repeats and Carter has 29!” Her jaw dropped. Now, if you have ever done a screening like this Autism screening, then you have filled out stacks and stacks of paper with 1,001 medical questions, so how is it that something like this never came up? And how is it that we never mentioned it ourselves? Remember that pediatrician who told us Jackson looked totally “normal”??? That is how we put this in the back of our minds and never thought about it again…. Thanks, Doc!
Anyway, we were sent home with a buckle swab kit, so we could swab Jackson’s cheeks and send via FedEx to get his results. The next morning, we swabbed him and dropped his test in the mail. Now we wait…
Our Fragile Xperience 