Gavriel's story: helping future generations

Their mum Kerry tells their story:

“When Gavriel was around three he started waking up with severe leg cramps. Doctors didn’t know what it was and thought it might just be growth pains. Gavriel learnt to walk ok and met all his milestones but we decided to get it checked out and were referred to a developmental physiotherapist. She noticed that Gavriel had very large calf muscles which is a classic sign of Duchenne Muscular Dystrophy (DMD). We were referred for lots of tests and when they had the results the doctor called and asked us to come in to see her. I’ll never forget the meeting. It was a short time after that Gavriel was diagnosed with DMD. He was about four and back then the only treatment available was steroids. Other than that there was very little that could be done.”

“When he was a teenager Gavriel started to use his wheelchair more and more and eventually lost the ability to walk. This means he hasn’t been eligible for most of the new clinical research studies for DMD that have become available recently. Those studies all use a test that measures how far boys can walk in six minutes to see how effective a new treatment is at stopping the condition getting worse. But boys who are not able to walk like Gavriel can’t do that test so can’t take part in the new studies that would allow them to access to new treatments.

The AI bodysuit trial is really important because it means doctors can very sensitively and quickly see any declines in movement and scientists can look at how the disease progresses in individuals. The hope is that in time it could replace the six minute walk test and mean that all boys with DMD could be included in a trial. Gavriel’s brother Josh is also taking part as a healthy volunteer.

The new bodysuit trial is funded by the Duchenne Research Fund. The charity was set up by our family after Gavriel was diagnosed. We realised that there were pockets of research happening for DMD and we started fundraising within our local community to fund even more of this research. The charity has grown and grown and now helps fund groundbreaking research like this, bringing together experts from different fields.

“Gavriel is very driven and fierce. He goes to school every day by himself and loves horseriding and socialising. We always have a house full of his friends!

Our dream is that in 10-15 years time, when people get diagnosed with Duchenne they are not facing the same black hole that we did. We know we are still a long way off a cure but we want our family’s experience to be for something. We want to turn what potentially was a tragedy into an opportunity by knowing we are helping future generations with this vital research.”