Alex Masterson was five years old when he was diagnosed with Noonan syndrome – a genetic disorder that can cause heart defects and distinctive facial features. But he did not have a mutation in the genes usually known to cause the condition so his family never knew exactly what he had. His mum Kirsty, 46 from Rochester in Kent, says: “It was very difficult in the early years because we wanted to know what it was so that we could prepare ourselves and deal with it.” Through the years Alex, who is now 20, has had 28 operations, including the removal of multiple benign tumours, several bouts of heart surgery, stomach surgery, dental work and operations on his feet.

When his family found out about the 100,000 Genomes Project in 2014 at Guy’s and St Thomas’, they enrolled him straight away. This national project involves sequencing 100,000 genomes from people who have a rare disease or cancer. The genome is your body’s instruction manual. It is made up of DNA and there is a copy in almost every cell. Sequencing of his
genome revealed that Alex has a related rare genetic disorder called Leopard syndrome, also known as Noonan syndrome with multiple lentigines (NSML). Kirsty, a mother-of-two, says: “I cried when we got the diagnosis because it was such a relief to have an answer. “Although it won’t change his life expectancy or treatment options, it has given us closure after spending so many years wondering and might help other people in the future. “If Alex had been able to have the test as a baby we could have been prepared for what was to come and avoided years of diagnostic tests and uncertainty.” Alex says: “The diagnosis has helped my parents a lot because it’s been very hard for them to watch me going in and out of hospital not knowing the cause behind it. For me, it’s all just a part of my life.”