I first realized that something was different with Joey when he was about 7 weeks old. He was on the changing table and I was talking to him. All of sudden I thought, “He isn’t smiling. He should be smiling. The older two kids were smiling by now.” In typical Joey, fashion he smiled a week later. Nonetheless, this began a long 5 years of living in “the grey” with Joey. He proceeded to miss all his milestones by just a little bit. His delays and disabilities were just enough to cause worry, but not enough to direct us to any answers, like he needed a craniocap, he would not sleep, he was very quiet, yet sometimes he was inconsolable. He could spend hours tightly swaddled in his swing, he hated books, and he did not point or wave bye bye. As Joey left the baby years and entered the toddler years, we continued to search for answers, but came up empty handed. We finally sent labs to have his DNA sequenced test done, at around 18 months. His first sequencing came back within normal limits, so Joey continued to live under “generic developmental delay with no known cause”.
We went about our life with questions and concerns. Joey had early intervention through school and speech therapy regularly. Something always felt off about Joey. His behaviors and emotions as a toddler were “big”. I struggled to take him to run any errands because he could not handle being in the grocery store or Target. He needed constant background noise at home, but hated any loud sounds (vacuum cleaner, coffee grinder, cars starting). He did not respond to time outs. He would hit himself. He would hit me. He fought and fought sleep. He would not tell us if he was cold or hurt. One time, he dropped a glass bottle and cut himself in the bathroom. I did not know he had hurt himself until I finished my shower and saw blood everywhere. I thought, “maybe it is just SPD, apraxia, ASD, Angelmen’s”, but he did not meet all the criteria for any of them. Once again, he was in the grey zone.
By this time, Joey was 3 years old, we had finally accepted that we were not going to get any answers. Joey was happy, healthy, and loved. He loved his siblings, to be outside, all lawn mowers, and to play with all things that moved. He loved “to get cozy” in his bed. He gave the best hugs. He was my helper and loved to have a “job” or purpose. He could eat (and eat and eat and eat). While all these things that we loved about him were becoming clearer, we were still struggling with his fine motor and his behavior. When Joey was mad or overstimulated, he “raged”, and it would take hours to “get him back”. He threw everything. He was (and still is) a destroyer and a dumper. He hit his siblings. His language delays would cause him extreme frustration. He struggled with any sort of fine motor skill. Using any sort of crayon or marker was not happening. He needed help getting dressed, using utensils, cutting, and putting his shoes on. Following two step directions, not matter how much he wanted to, was merely impossible. While Joey loved to play, he could never get settled. He would jump around from cars to trains to babies, never playing with anything for longer than 5 minutes. He would be able to tell us colors and count, and then 5 minutes later would forgot which block was red.
In the summer of 2020 when Joe was 5 years old, I received a phone call from
Joey’s geneticist saying that, they had rerun his genome lab test and had found something, nothing big, but to call them back. The counselor told us that Joey has a variance on the FOXP1 gene. As she began to describe the traits and symptoms of kids with this deletion or variance, I just nodded my head. It was Joey. It all made sense. I got off the phone with her and immediately headed to the internet to find a support group. I found the FOXP1 Facebook group and dove in. Every single item (except for the visual difficulties) was Joey. I will never forget my mom and sister calling and saying, “did you see the post about the girl knocking down all the rock towers at the beach?”, “Did you read about potty training?”, and “Did you read about the obsession with pushing riding toys?” There was no doubt about it, Joey was a Foxy.
While there is still so much unknown and no real changes in our day-to-day life with the diagnosis, it was a relief to have an answer and explanation for everything about Joey that had felt “off”. It is amazing to feel the support from the other families, and to know we are not alone.