Reuben is RARE, one of 300 that have SYNGAP 1 in the world. He is so unique!

We was diagnosed in 2016 with SYNGAP1 after years of tests and procedures in hospital with many specialists. Reuben has a mutation in SYNGAP 1 which has caused him to have an intellectual disability, global developmental delay, autism, behavioural abnormalities, hypertonia, impaired language development and sleep issues. Reuben has some words but mainly communicates through his Makaton and his PECS.

Like most children with SYNGAP1 Reuben loves water, animals especially horses, goats and cows , sensory activities and has the most infectious laugh and giggle. He is a thrill seeker which we discovered recently, he signs more when the rollercoaster stops!

We are truly blessed to have him in our lives and he really brings happiness in so many ways. He has made us see things in a new way, taught us so much and is our little hero who has overcome so such and continues to make us proud every day new milestones.

I have just signed up to the Bristol 10K raise money for the first UK research weekend in June 2019. Money raised is going to Edinburgh University who are hosting our first UK research weekend in June 2019. Over the weekend Reuben along withother SYNGAP1 children will be tested and assessed by scientists, doctors and researchers from all over the world. We will get to meet other families with the same condition. There is a significant cost to the event in Edinburgh so I would like to help raise money to support the research and development.

Our goal is to empower the families and stress the importance of their involvement in driving research. The aim is to provide support, education, and resources. Families will take away valuable knowledge intended to reach treating clinicians of SYNGAP1 patients and give families and caregivers a sound knowledge base of the disease and how to best approach available treatments.