The best word to describe Hannah is silly. She's a funny, curious, stubborn, impulsive and playful 3½ year old. We started noticing delays around 4-5 months old and thought she may have Cerebral Palsy. It wasn’t until age 2½ that Hannah was finally diagnosed with a mosaic form of SYNGAP1 via Ambry Genetics Neurodevelopment expanded panel. Mosaic means some of her cells are healthy and some have the “de novo” SYNGAP1 mutation. Her doctors say mosaicism probably explains why she can talk and we hope it may offer protection against developing epilepsy. A month prior to Hannah’s SYNGAP1 genetic diagnosis she was diagnosed with ASD, speech delay, and gross motor delay.
Hannah loves music, reading, swimming, playdough, bubbles, sand, and board games. Her favourite foods are cupcakes, pine nuts and ice lollies. Hannah would live in the park if she could and can now swing on the “big girl” swings. She also loves the supermarket.
Hannah knows her alphabet, numbers, animals, colours, shapes and some American Sign Language. She’s starting to “read” by herself and loves Pete the Cat and Stanley books. Hannah’s visual recall is really good. Pre-COVID Hannah was able to spot her favourite book in a crowded library by glimpsing a tiny part of the spine.
Hannah sometimes refers to herself and other people as “bear.” We have no idea why!
Hannah has a little brother “Al”. She doesn’t interact with him much but likes to rub his hair and say “don’t do that, bear!” when he’s getting into mischief.
Hannah struggles to understand abstract concepts like me/you, past/present and danger. Playing with other children and pretend play is also challenging. Hannah prefers predictable interactions and will say the same jokes and phrases every day. Hannah’s attention span is limited and she needs lots of time to process a question. We are thankful that Hannah now sleeps quite well, generally all night and a 2-3 hour nap daily.
Hannah attends a wonderful developmental preschool and receives OT, PT, and Speech three times a week each at school. Having a SYNGAP1 diagnosis helps inform the best way to manage her care. We hope in the future SYNGAP1 will be tested for at birth and gene-specific therapies will be found to help mitigate the serious challenges the children face.