Hi. my name is alfie ( 9 years old)

Alfie was diagnosed with Syngap1 (c.3477dup, p.Asn1160Glnf*8) when he was 6 years old. This was his last confirmed diagnosis made from genetic tests after numerous other tests from age 2 onwards. He was diagnosed with GDD at the very beginning which led to further diagnosis of Epilepsy, Severe learning difficulties, Autism, Hypomobility, he has problems with dribbling, and he is Non-Verbal. We are awaiting tests for ADHD also. He has medication to keep the epilepsy under control and has patches behind his ears to help with the dribbling.

Living with Syngap1 for Alfie he knows no different and he is one of the happiest kids you’ll meet, he has his likes a dislike’s but in general he is happy and healthy, with the occasional meltdown. Family life with Alfie for us is normal but from an outside view may seem different. We have had to make some adjustments of course to accommodate Alfie’s needs such as moving home, ripping showers out to replace with baths, putting locks on doors, baby gates etc, we have tough furniture made to encase the TV as he loves pulling and climbing on TV’s. He has a special chair, for meals and table activities at home, buggy for days out. We have routines we follow so Alfie knows roughly what is going on, but we try not to stick rigidly to routines as life doesn’t always go to plan, he also attends a special needs school which he loves where he has a one to one all day every day. He absolutely loves his iPads and phone he is a wiz on YouTube now, he enjoys rolling cars on the floor and mouthing metal objects, we have to keep shiny objects out of sight and reach. 

Anyone who meets Alfie falls in love with him.