“His big, toothy grin lights up a room, and his determination is nothing short of a warrior!”
A message from Hoyt’s family:
|We were told from the day he was born that Hoyt was unlike any other child out there. In these cases, our friends and family were talking about Hoyt’s quiet and laid-back demeanor. He was such a good baby – sleeping for up to 10 to 12 hours a night and quietly and patiently sitting in our arms, soaking in his surroundings when out and about. Little did we know how unique Hoyt really was.|
It was a week before Christmas 2020 when we finally got the diagnosis. Hoyt was 17 months old at this point. We were so excited when the geneticist called saying they figured it out. Our search for answers had been ongoing for nearly 10 months at that point. It wasn’t until after the call, when we did our own research, that the reality as to what this diagnosis would mean for Hoyt and our family really set in.
It started as early as 5 months old. We noticed Hoyt wasn’t picking up skills as quickly as other kids. I did what any mother would do and started researching symptoms online. At first, I thought maybe Autism was the culprit, but he was so young. It wasn’t until Hoyt was 7 months old that we started to really get concerned. Hoyt was still not rolling over or sitting independently. That’s when our doctors recommended physical therapy. We started PT once a week at the beginning of March and only had a couple session when COVID-19 rocked our world. Luckily, our doctors fought for us, and we were able to continue PT in-person throughout the lock-down.
PT eventually led us to ophthalmology, who then directed us to neurology due to Hoyt’s nystagmus. Neurology diagnosed Hoyt with a Global Developmental Delay in early Spring 2020, and we immediately started genetic testing. The first and second round of genetic testing came back normal or inconclusive. Finally, we did Exome Sequencing, and that is when they identified Hoyt’s mutation of the KIF1A gene.
Although the diagnosis shattered our world, it has had no impact on Hoyt, who is still his happy, fun-loving and determined self. Hoyt continues to amaze us every day! He’s making progress, even if it’s slow, and is starting to show signs that standing independently is coming soon. Hoyt’s major issues are with his balance and coordination. While Hoyt can crawl and pull to stand, he often loses control and is covered with bumps, cuts and bruises. At 19 months old, he’s been evaluated to be at about an 8- to 12-month-old developmentally.
While he cannot talk, he babbles all the time and is constantly showing us how much he loves us! He gives kisses, waves goodbye and hello, plays peek-a-boo like a champ and gives the best hugs and snuggles. He is determined to show the world that he can do anything he sets his mind to. Our goal as parents is to be there for Hoyt no matter what challenges he faces and help raise awareness for KIF1A so we can hopefully find treatment and a cure before it’s too late.