CHEEKY Aveley youngster Charlie Mone (9) smiles on despite a rare genetic disorder that is slowly causing his muscles to die.
Mainly affecting boys, Duchenne Muscular Dystrophy (DMD) is a fatal, progressive disease that affects every muscle, including the heart.
Patients are usually wheelchair dependent by age 12 and many don’t live beyond their mid-20s.
Charlie’s father Barry Mone said he wanted to raise awareness about DMD, which affects just 70 boys in Western Australia.
“Charlie was diagnosed with Duchenne in November 2017, which is the most severe form of muscular dystrophy currently known,” he said.
“The muscle degradation affects everything from picking up a pencil to write, running, walking and keeping up with his friends.
“Charlie has never used a knife at the dinner table and falls frequently due to tip toe walking from the build-up of dead muscle tissue in his legs.
“But he copes admirably, adaptability has been one of his major strengths.
“Day to day nothing much fazes him, and he smiles regardless.”
Mr Mone said while DMD was usually diagnosed around the age of five, it was commonly misdiagnosed.
“We had Charlie seen many times by local doctors to no avail, he was even referred to physio, again to no avail,” he said.
“It wasn’t until we met another DMD family who live in Aveley that Charlie was diagnosed.
“Charlie visits Perth Children’s Hospital every month where he sees a neurologist, genetic counsellor, cardiologist, orthopaedic surgeon, physical therapists, endocrinologist, psychiatrist and nutritionist amongst other allied professionals.”
Mr Mone said there needed to be more research into crippling disorder.
“Currently the average age for boys with DMD is 26,” he said.
“However there is research being undertaken at PCH, the University of Western Australia, Murdoch University and around the world into the condition.
“We are awaiting word on any available clinical trials which could be as far afield as the UK, USA or Canada.
“Trust me when I say the challenge is ahead, and as my wife often says, we will never again sweat the small stuff.”
In October UWA researchers were awarded $490,000 by Duchenne UK to investigate the use of an amino acid commonly used in energy drinks as a treatment for DMD.
Project leader Dr Peter Arthur said the amino acid taurine was found in all animal tissues and was also sold as a health food supplement.
“There is strong data from animal studies to suggest taurine improves muscle strength, reduces inflammation and protects against muscle wasting,” Dr Arthur said.
“The safety and pharmacokinetics of taurine in humans is already well understood and very few adverse side effects have been reported in more than 30 clinical studies.”
To follow Charlie’s journey go to www.facebook.com/fightingforcharlie or for more information on DMD go to www.saveoursons.org.au