Meet Beckett, a seven-year-old boy with a contagious laugh and a love of swimming. He adores the water, music, and all things blue. Beckett can match the tune of any song and loves to sing along with the radio in the car. His favorite songs include “Happy,” by Pharrell Williams, and anything by Bruno Mars. He helps his mom and dad around the house with everything from laundry to gardening, and likes to watch YouTube videos and play on his iPad. Though he seems like an average seven-year-old, Beckett is actually very unique.

Beckett’s differences were first observed when he was around four months old. While his twin sister, Pyper, was sitting up, playing with toys, and reaching her developmental milestones on a normal timeline, Beckett could not support his own head well or sit up without the help of a pillow. In addition to motor delays, he showed the beginning of cognitive delays as well, such as an inability to focus on toys. At first his inattention was diagnosed as ADHD, but ADHD stimulants didn’t improve Beckett’s behavior. Beckett went through diagnoses of autism and mild mental retardation before finally, after multiple genetic tests, his genome showed a mutation for SYNGAP1. Doctors told Beckett’s parents that the mutation was often associated with autism spectrum disorder, epilepsy, and intellectual disability. At age 5 ½, Beckett was diagnosed with absence seizures and began taking seizure medicine, which significantly progressed his speech and cognitive development to the point where he can now understand two-word commands.

While Beckett has been able to progress with the help of his seizure medicine, the medicine only treats his outward symptoms. It does nothing to alter the cause of these symptoms: his genetic mutation. Little is known about SYNGAP1, so there is no way to know how Beckett will develop and what his future will be like. It is essential that more research be done on the disease to give children like Beckett hope for an independent, fruitful future.

Beckett’s family now has a name for his condition and a chance to find other children like him. Beckett’s mother, along with other parents who have children with SynGAP, are taking active steps toward a cure by beginning Bridge the Gap – SynGAP Education and Research Foundation. The organization seeks to raise awareness about SYNGAP and find new treatment options for affected individuals.

Alone, we can make contributions to our community, but together, we can make transformative change! There are many ways we can all contribute to this cause. Here is how to get involved: