“Our goal above all is to ensure that he has a full and happy life and knows every single day just how important, loved, and amazing he is. Caspar is our rock star and our superhero!”
A message from Caspar’s family:
Caspar was born in August 2017. His first year was fairly textbook in terms of development. He began sitting up at 6 months and crawling at 12 months. We started getting concerned after his 1st birthday when his development seemed to plateau, and he was showing almost no signs of pulling to stand, no signs of walking, and no first words. This is when we began receiving the consistent message, “All kids develop at their own pace. You shouldn’t be concerned until he is at least 18 months and still not walking.” At 18 months, we took him in for a routine doctor’s visit and expressed our concern that Cass was not standing on his own and nowhere near walking. This visit then launched us into a 3-year quest for an answer to all of Cass’s delays. This started with a pediatrician referral, bloodwork and basic genetic test, physiotherapist, speech/language pathologist, and audiologist. All initial tests came back normal. He then went for his first MRI at 2 years old which indicated mild to moderate cerebellar atrophy. Cass was then referred to neurology which led to more testing, all which came back normal. Just before Cass’s 3rd birthday, he experienced his first major seizure event and was rushed to emergency. This led to multiple EEGs, and he now takes medication daily to prevent further seizures. After this, we were finally referred to the genetics clinic where we received a referral for trio whole exome sequencing.
In December 2021, after 5 months of waiting, we received the results back that indicated a de novo mutation to Cass’s KIF1A gene. Receiving this diagnosis, being told just how rare it is, and how little is still known about his disease was a huge gut punch for our family. Despite having very little information to arm us with, our geneticist recommended that we contact KIF1A.ORG and start reaching out to other families who were navigating this same diagnosis around the world. It was a huge relief to finally be put in contact, hear stories, and see pictures and videos of other KAND patients who are so similar to Cass. Now we had an answer, a purpose, some direction, and a support group all rallied around the same goal of advocating and networking in pursuit of finding treatment and ultimately a cure for KAND.
Despite his diagnosis and the countless appointments, Caspar has always been the happiest, funniest, and most loving little guy. He still does not walk or stand unassisted, but motors around quite speedily with the use of his crocodile walker. He is a pretty good climber and a lightning-fast crawler. Cass struggles with fine motor skills but can self-feed and navigate an iPad probably better than me! He had next to no words until 3-1/2 when, out of nowhere, the words just started coming. At first, I tracked them so I could tell his doctors just how many words he was saying. I stopped tracking fairly quickly. While he still struggles a lot with speech, he can now speak in short phrases, say his ABCs, and count to 10. However, it requires a lot of concentration and effort to get his words out.
Everyday activities are exponentially harder for Cass, if not impossible. While he increasingly shows his frustration at not being able to do the same activities as those around him, he still gets up every day and forges ahead at the very best of his abilities. Everyone who meets Cass is smitten with him from day one. His wide grin, infectious laugh, and beautiful blue eyes can immediately brighten your day. He loves dinosaurs, cars/trucks, going for walks, wrestling with his older brother, snuggles, music, and attempting to tell a good potty joke (haha!). Cass can often be heard yelling from the back seat “more rock roll” if I try to put anything else on the radio.
Cass is our whole world, and our hope for him is that someday soon we will have a treatment or cure that will stop the progressive nature of this disease, that someday he might be able to walk on his own and not struggle with daily activities. Our goal above all is to ensure that he has a full and happy life and knows every single day just how important, loved, and amazing he is. Caspar is our rock star and our superhero!
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KIF1A.ORG is dedicated to accelerating research to find a cure for superheroes like Caspar. You can help. Treatment is within reach, but there are two obstacles in our way: time and money. Give today to empower KIF1A families to achieve our mission for this generation of KIF1A superheroes.