Articles by Jasmine Hines

Health

The rare genetic disorder shortening the life span of boys

Nayte Scott is a patient little boy who loves playing with his Lego and watching movies at his home in central Queensland. His mum, Skye, never imagined her six-year-old's lethargy and habit of walking on his tiptoes would be symptoms of a life-changing medical diagnosis. "I just felt numb," Ms Scott said. Nayte was diagnosed with Duchenne muscular dystrophy in September, a genetic disease where the average life expectancy is about 30. "We packed up and drove home from Brisbane and that's when I started reading all the statistics," Ms Scott said. Save Our Sons Duchenne Foundation is the peak body for the disorder in Australia. Chief executive Sandy Kervin said it was a rare and progressive muscle-wasting condition that mostly affected boys because it was linked to the X chromosome. Ms Kervin said on average, about one in every 5,000 boys were affected but it was rarer in girls, affecting one in every 50 million. Ms Scott, who lives in Boyne Island in the Gladstone region, has since found out she is a genetic carrier. "It was pretty shocking … it takes the future away that you thought was going to happen and completely turns it upside down," she said. Ms Scott has been told to expect Nayte to stop walking around the age of 12 because of muscle weakness, while his heart and lungs are also expected to deteriorate later in life. "It's hard to be told that your kid has this disease and there is no cure, only treatments," she said. Saving boys, improving outcomes The determined mum has since made it her mission to fundraise for Save Our Sons to help expand clinical trials and research, which she hopes will better treat or even cure the condition. "The future is never locked in," Ms Scott said. "I'm not concerned if he ends up in a wheelchair, I just want to keep him alive and [ensure he has] the best quality of life, that's what I'm aiming for." She said there had been an outpouring of support from the central Queensland community and, within a week, more than $20,000 was raised in an online fundraiser. Ms Kervin said the charity believed a cure was possible in the future. "Those that were diagnosed 10 to 15 years ago would have been told that their sons may not progress past the age of late teens, early 20s," she said. Ms Kervin said there were a few clinical trials currently taking place in Australia, including for gene therapy, but they were still in the early stages. She said it was possible a range of different treatments would become available in the future, and they would depend on the child's individual case. "A lot of parents say what they want is a freeze, a stop from where they are today, so there's no more deterioration of their muscles," she said. "If that could happen, that would be fantastic." Nayte is currently receiving steroid treatment, and Ms Scott says she is hopeful that as he grows, there will be more treatment options available to him. "I'm really appreciative for all the scientists that are out there and dedicating their lives to this stuff, because I've never wanted to become a scientist more," she said.