Preston lives in a small-town in central Pennsylvania, and was first diagnosed with SYNGAP1 in January of 2021. Getting a diagnosis for Preston was surprising to say the least, however, the SYNGAP1 diagnosis finally explained all of Preston’s symptoms. Previous to the SYNGAP1 diagnosis he was diagnosed with Autism in August of 2020, he was also diagnosed with Epilepsy in October of 2020. Currently, Preston is 3 years 1 month. He has been able to walk since Christmas Eve of 2019, which was a huge milestone for him to overcome. Preston currently receives Occupational Therapy, Speech Therapy, Physical Therapy, Vision Therapy, and has a teacher come to his home one time per week.
He continues to work on his speech skills, as he is currently n0n-verbal, however, he is excellent at showing us what he wants. We continue to work with medications to get his seizures under control, as this seems to be a battle we are always fighting. Lastly, Preston still refuses to eat any type of solid foods. He currently eats purees from a bottle. We continue to see our feeding team in hopes of getting better results.
Overall, Preston has had a hard-uphill battle during toddlerhood, as most children with SYNGAP1 do. However, he remains kind, loving, and full of life. He loves to snuggle, be held, play outdoors, swing, play in water, and play with anything with lights or music. Each day Preston, as I am sure most of our children do, wakes up with determination, and resilience to learning. Some days I am simply astounded by his daily determination.