Save our Sons fundraiser offers hope for disease cure
A quest for help after her son was diagnosed with a devastating illness prompted a Sydney mum to join forces with the Save Our Sons Duchenne Foundation.
Ollie McPhail was only 10 weeks old when he was diagnosed with Duchenne muscular dystrophy.
His mother, Patricia, was called into the hospital for results and, with four doctors waiting, instantly knew it was “doom and gloom”.
“The main emotion is grief, then denial and you question why,” Patricia says.
What is Duchenne?
Duchenne muscular dystrophy is a severe genetic, muscle-wasting condition that affects one in 3500 boys worldwide but is very rare in girls.
It is the most common and most severe form of muscular dystrophy; there is no cure or effective treatment and it is the No.1 genetic killer of young boys worldwide.
Life expectancy of Duchenne sufferers is about the early to mid-20s. It is caused by a mutation in the dystrophin gene, which means little or no dystrophin protein is produced.
Dystrophin protein protects muscle cells from damage; without it, the cells deteriorate.
Living with a Duchenne diagnosis
While most children are diagnosed around the age of four-and-a-half to five, Ollie’s diagnosis was unusually early.
His sister, Emily, was sick with a mystery virus until specialists realised she was a Duchenne muscular dystrophy carrier.
They suggested Ollie and Patricia be tested.
“For us to find out at 10 weeks, in a sense you kind of feel robbed because you’d rather have not known for a few years,” Patricia says.
But she says the silver lining was starting therapies early.
Now 10, Ollie has grown into a cheeky character with a talent for numbers who enjoys playing the drums and dancing.
But as he grows he will need more specialised equipment, including a stand-up power-chair.
Ollie tried a power-chair and Patricia says the effect was immediate. “Just the smile and freedom and the independence I could see in him,” she says.
“Ollie said, ‘Wow, Mum I might be able to go to school by myself’.”
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Support through Save Our Sons
Soon after Ollie was diagnosed, Patricia came across the Save Our Sons Duchenne Foundation.
She now works for the charity, which funds research, therapy programs and specialist nurses in children’s hospitals around Australia. It is also involved in government advocacy and fostering community networks.
Through these networks, Patricia has connected with others affected by Duchenne.
“I was talking to a man who is 31, he’s into wheelchair sports, he’s been to university, he has a job and lives independently,” she says.
“They’re the stories I draw hope from… the fact that these things are achievable.
“I honestly believe there will be a cure, I don’t know if it will be in Ollie’s lifetime, but I do think there will be at some stage.”
- Marathon Walk: Walk raises $1m for Duchenne cure
What can you do?
On Wednesday 17th of March, Walk 4 Duchenne, the organisation’s major fundraiser, will see a group of walkers cover 199km over 7 days from the Save Our Sons Head Office in Hurlstone Park, Sydney to Parliament House, Canberra.
Chemist Warehouse is the national sponsorship partner.
To take part or donate, visit Walk 4 Duchenne.
Written by Bianca Carmona