By Jasmine Hines, ABC
Nayte Scott is receiving steroid treatment. Photo: ABC / supplied
- Central Queensland boy Nayte Scott, 6, has been diagnosed with Duchenne muscular dystrophy
- The genetic disorder mostly affects boys and has a life expectancy of about 30
- His mother is fundraising for research and clinical trials in the hopes of finding a cure or therapy to better treat the condition
Nayte Scott is a patient little boy, who loves playing with his Lego and watching movies at his home in central Queensland, Australia.
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," Skye Scott said.
"I can remember the doctor saying that it's terrible to meet under these circumstances and just thinking, 'Oh, OK, this is huge'."
Skye Scott is determined to raise awareness and fundraise for Duchenne muscular dystrophy. Photo: ABC / Jasmine Hines
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," Skye said.
"I was in the car with my children, and I had to sob quietly and my poor partner... I couldn't say anything to him. We just had to get home and go from there."
Skye Scott says her son is a sweet little boy and her family proudly displays his art on their fridge. Photo: ABC / supplied
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.
Kervin said, on average, about one in every 5000 boys were affected, but it was rarer in girls, affecting one in every 50 million.
"The faulty gene... doesn't allow the body to produce dystrophin, which is the protein needed to keep our muscles healthy and strong over time," she said.
Scott, who lives in Boyne Island in the Gladstone region, has since found out she is a genetic carrier.
"It was pretty shocking," she said. "It takes the future away that you thought was going to happen and completely turns it upside down."
Skye Scott has fundraised more than $20,000 for the Save Our Sons Duchenne Foundation. Photo: ABC / Jasmine Hines
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."
Skye Scott with husband Christopher, daughter Irah and Nayte. Photo: ABC / supplied
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.
"It's amazing to know that we have shoulders to cry on as well and we do have plenty of them," Scott said.
Skye Scott has learnt she is a genetic carrier of the disorder. Photo: ABC / Jasmine Hines
Kervin said the charity believed a cure was possible in the future.
"Those that were diagnosed 10-15 years ago would have been told that their sons may not progress past the age of late teens, early 20s," she said.
"We're now seeing more and more diagnoses, where the prognosis goes into late 20s, early 30s, but that's nowhere near long enough for a healthy, happy life for anyone, so we want to see that change."
Kervin said a few clinical trials were currently taking place in Australia, including for gene therapy, but they were still in the early stages.
She said a range of different treatments may 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 with younger sister Irah. Photo: ABC / Jasmine Hines
Nayte currently receives steroid treatment and Skye said she hoped, as he grew, more treatment options would become 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.
- ABC
