Helena is our very active and determined little girl. She is aged 8 and was diagnosed with Syngap in October 2017, aged 5. She lives with mum, dad and her older brother and younger sister in England.

She was a relatively placid young baby, but we were alerted to potential problems at around 9 months old when she still couldn’t sit up unsupported and a physio was concerned about her muscle tone; after a number of trips to the paediatrician and with major milestones being missed, we received the Global development delay diagnosis. We had a brain MRI and some basic genetic tests done but were then placed onto the national DDD (Deciphering Developmental Disorders) genetic study and over three years later we received the Syngap1 diagnosis.

Helena now has the Syngap1 diagnosis alongside ASD, ADHD, severe learning difficulties, epilepsy, hypermobility, oppositional defiance disorder, early on-set puberty and sensory processing issues, amongst other things. Her epilepsy presents mildly at the moment, for which we are thankful.

Helena loves water, especially swimming and having baths, baking, eating ice-cream, face-painting, slides, swings and, most recently, she likes looking at a collection of garden gnomes outside a house round the corner. She of course likes her iPad and “daddy’s phone” where she likes to watch videos and listen to music; current favourites are Paw Patrol, Christmas songs and electronic dance. 

Helena has some extremely challenging behaviours which we continue to try to understand so that we can help her more. Her aggression towards loved ones and her defiance are at best testing, seeing her hit and bite her younger sister is as heart-breaking as it is unfathomable. How our little warrior suffers inside is hard to imagine.

These behaviours severely impact our family life, our relationships, our work and our passions and dreams, but we have gained so much from the Syngap community and we hope to be able to help other families who are on this journey with us.