Bethany has a rare Genetic disease called Syngap1, which there is no cure for. For the first time the UK are hosting a research weekend in June 2019, during this Bethany will be tested extensively and assessed by scientists, Doctors and Researchers from all over the world. 

We are attending the weekend as a family as we will get to meet other families with children with the same condition and due to the significant cost of the event I am wanting to help raise money. 

Bethany has a mutation in Syngap1, which is on chromosome 6. This has caused her to have no mobility, no speech, Epilepsy(different types which causes her to have daily and night seizures), kyphosis, scoliosis, tube fed, severe global developmental delay, doubly incontinent, behavioural issues, sleep issues, she needs 24 hour care and is classed as having a life threatening and possible life limited condition.  Every hour of every day is a challenge but she is the most amazing daughter and we want to help her in any way possible. 

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.