Isabel is 11 years old and was diagnosed with syngap1 syndrome just over 5 years ago. Issy has profound learning difficulties, epiliepsy, Autisim, extreme challenging behaviours, sensory processing disorder, hyperacusis, Gastrostomy (tube fed) Microcephaley, Kyphosis, Scoliosis and severe constipation.
When Issy was born we had no reason to believe there was anything wrong but all of a sudden she wasn't reaching her milestones, just before she was 18 months old our GP referred her to be assessed and eventually at 21 months we were told she had global development delay and sensory processing disorder. Forward to age 3 Issy was diagnosed with epiliepsy which was sudden and severe. Aged 6 Issy had a gastrostomy due to a decline in her appetite over a period of 2 years and became severly underweight in the same year we were given the diagnosis of Syngap1. Issy now 11 still has a lot of challenges to face with plans for surgery on her spine due to scoliosis.
Issy is a very happy, loving child who enjoys all the simple things in life like bus rides, train journeys, swimming, nursery rhymes, Santa and her tablet. Issy has made our family appreciate the simple things in life and she brings joy to our world every single day.