Research is not just about lab coats and data. The projects we fund can be transformational for people living with TSC. Marie, Perry and Trystan’s story is just one example of how research translates into real life.

Marie and Perry’s son Trystan was part of a ground-breaking discovery that changed everything about the way we look at TSC. It also improved his quality of life by uncovering treatments that previously hadn’t been considered.

“Trystan was seven years old – it was a game-changing day. It felt like research was no longer a bottomless pit. Trystan’s blood was analysed in a landmark study that led scientists to discover one of the genetic markets of TSC – the gene we now call TSC1. This quickly led to the discovery of TSC2 and has helped shape the huge improvements in treatments we have right now.”

TSC research and the development of new ways to diagnose, treat and manage the condition wouldn’t happen without funding into research and the amazing families like Marie’s who take part. As well as helping TSC research, participating in other trials and research projects has brought other benefits to the family. Marie says:

“Getting involved in research has been empowering and therapeutic. Trystan is still alive because of the research work being undertaken and funded by the TSA. Anything we can do to strengthen research efforts is incredibly important.”

TSC research and the development of new ways to diagnose, treat and manage the condition wouldn’t happen without the support of the amazing people and families who volunteer to take part, like Marie and Trystan.