Read more about Cole on his Warrior Story.
In this video, Jessica Fares shares the story of her son Cole, who was diagnosed with SYNGAP1 at age two after early feeding issues, missed milestones, and an initial autism diagnosis. She describes the challenges SYNGAP1 brings—including intellectual disability, sensory and sleep issues, aggression, self-injurious behaviors, and the risk of epilepsy—while also highlighting Cole’s joyful personality, his love of swimming, cuddles, and movies, and the happiness he brings to their family. Jessica reflects on the difficulty of receiving a rare disease diagnosis, the limited treatment options, and the importance of support from family, friends, and the SYNGAP1 community. She emphasizes the need for awareness and understanding, reminding viewers that children like Cole matter deeply and deserve a brighter future.
Below is a transcript from the video:
Jessica Fares
[00:00:05] I’m Jessica Fares and I have three kids. My middle son, Cole, is five. And when he was two years old, he was diagnosed with a rare genetic disorder called SYNGAP1. SYNGAP1 affects brain activity and function, causing neurological issues like intellectual disability, sensory issues, sleep issues, seizures and epilepsy, aggression, autism. The list goes on and on. We started noticing some issues when Cole was around 10 months old. He had a lot of feeding issues with solid foods and he started missing some of his milestones. Around 18 months, Cole was diagnosed with autism. Even though he really didn’t check off all the autism boxes. Over the next year, we went through multiple genetic panels and one came back positive for a mutation in the Syngap gene. And a diagnosis of Syngap1. At that time, less than 500 people in the world had been diagnosed with SYNGAP1. Getting a diagnosis. Wow. That was heartbreaking. You know, you can think there’s something wrong or different. You can even know there’s something wrong or different, but, you don’t really want to hear someone else say it. Especially not when, you know, it’s written in their DNA. And it comes with things that you never even expected, like epilepsy and seizures. Yeah, it was hard. But, you know you have your ugly cry. And you say all the anger and grief and fear. And then you hug your little boy, and figure out what you do next. So that’s what we did. We jumped on Google and tried to look up and read everything we could find about Syngap1 which in 2019 was not a ton of information. Cole had his first one-hour EEG in the hospital and about a month later we did a 24-hour EEG at home. He was a trooper. He actually handled it much better than we expected. Luckily, we haven’t seen seizure activity with Cole yet. Epilepsy is very common in Syngap1, and for many parents, it’s the hardest part of this disorder. Syngap1 is a spectrum disorder. So not all of the kids have all of the symptoms. And some may be more or less severe than others. Cole’s difficulties mostly revolve around intellectual disability, aggression, and severe self-harming behaviors. It’s not all bad though. Cole loves to swim. He loves tickles and playing chase. Moana, Frozen, and Trolls are played on repeat on his iPad, followed by his giggles all day long. He’s close with family members, he likes to hug and cuddle, and he licks everybody. Itsy Bitsy Spider will always get a smile. And he just has the best smile. There’s no cure for cold. Right now, there’s not even a very good treatment option. Having a kid with special needs is not easy on any level. But having a kid with a rare disease is even harder. We’re so thankful for our family and friends that help. And we found a wonderful community of other parents of kids with Syngap that really just understand what we’re going through. Meeting Cole, sharing his story, asking questions, and understanding a little bit more about SYNGAP1, this disease that you’ve probably never even heard of. It’s so important to show that these kids, through the struggles and through the challenges, they are love and they matter, their lives, their futures, the lives and futures of their families matter.