“Gabriele was diagnosed with Syngap1 at 2.5 years old at the Meyer Hospital in Florence. Around 2 years old we noticed Gabriele having myoclonic absence seizures. Following this discovery we went to various specialists and eventually had a genetic test done that gave us the diagnosis. We are struggling with Gabriele feeling tired and being unable to administer food properly to him. Hopefully soon we can get help for that.
Gabriele is a very sweet child and loves cuddles. We deal with his frustrations due to his lack of communication skills, often he will hit himself on the head when he can’t get what he wants. We are still hopeful that one day he will be able to communicate with us in some way.” -Dad