When Kathy and Glenn Stalley saw their 18-month-old son, George, get up off the floor in a pediatrician’s office, they were emotional.
Although the boy could sit and stand, the Sydney couple had concerns regarding his gross motor skills. He had difficulty transitioning between movements, so watching him get off the ground alone seemed like an accomplishment.
However, George had used several of his limbs to get up. This detail immediately set off the alarms of his doctor, who ordered urgent blood tests.
When they returned, the loving parents received news they never expected. Her little boy had Duchenne muscular dystrophy.
Duchenne is the leading cause of genetic death among boys, but although the genetic disorder affects one in every 5,000 male births, it is widely unknown. There is no cure.
For Cathy, this news was the first time she had heard about the genetic condition.
“I knew instinctively something was wrong, but I didn’t think it would be this,” Cathy told Daily Mail Australia.
“Now, it’s the first thing I think about in the morning and it’s the last thing I think about at night, but then I hadn’t heard of it.”
At just 18 months old, George Stalley was diagnosed with Duchenne muscular dystrophy.
A seemingly normal baby
Cathy says that before George’s diagnosis, there were no real red flags regarding his health.
‘George was a seemingly normal baby. He was a little behind with some of his gross motor skills at some points. But then he seemed to be ahead of everyone else, he was one of the first to sit in my mother’s group.’
“He couldn’t go from lying to sitting and then, although he could stand, he couldn’t go from sitting to standing. He seemed to have difficulty with transitions,” Cathy said.
‘We weren’t worried. “The GP wasn’t worried, George was meeting all his targets.”
But when George was eight months old, Cathy decided to hire a private physiotherapist to do some sessions with her son, but at that time nothing was detected.
When George turned one, the mother of two wanted help from a specialist, but doctors weren’t worried at first.
‘At her 12-month check-up I said I would love to see a paediatrician, but the GP dismissed me. Two weeks later I returned and demanded the referral. Again, we weren’t worried, I just wanted peace of mind.’
It took six more months to reach the diagnosis at the pediatrician’s appointment. Jorge was 18 months old.
Cathy and her husband Glenn welcomed baby George five years ago and say he was a “seemingly normal baby” before the shock diagnosis.
After learning of her son’s diagnosis, Kathy did what most in her position would do. “I Googled it and the first thing you read was that 16 years is the life expectancy, but actually now it’s around 20 years.”
Duchenne is a degenerative disorder in which a person with the condition experiences progressive muscle damage and loss of muscle function and strength.
This muscle damage occurs because there is a lack of dystrophin, a protein found in muscle cells that functions as a shock absorber for muscles.
Because those with Duchenne cannot rebuild this protein as other people can, this leads to progressive damage to muscles throughout the body, including vital organs.
I’m running for George, because he can’t.
Stalley family friend Cameron Nicholls will be running an ultramarathon in October to raise funds and awareness for Duchenne Australia.
The father-of-four and business owner gets up early in the morning to do his long training sessions around his busy family and work life, and aims to raise $25,000 for the charity, which provides much-needed support. they need. many families affected by Duchenne.
Cameron Nicholls (right) is running an ultramarathon in a bid to raise $25,000 for Duchenne Australia in honor of George.
Cameron said: “George has a great personality and is such a cheeky little thing we just love him.” The strength of this beautiful family inspires me every day and I am lucky to have the opportunity to push my physical limits to help raise awareness and funds for this incredible charity.’
“80km may seem like a long way and waking up at 3am to train can be difficult, but George inspires me every step of the way. He has no choice, so there is no excuse for me not to keep going and George is all the inspiration I need to take on this challenge.”
Cathy said: ‘We are incredibly proud of Camo. The recognition of George’s illness is surprising and we know our friends want to help. He has a huge feat to undertake and has doubled down on the challenge by committing to such a huge fundraiser. We are proud to be your friend.’
To donate to Cameron’s fundraising page to support Duchenne Australia, click here
what is life like now
George is now five years old, will start school next year and the family have moved into their forever home, which they are renovating to ensure it is suitable as George’s condition progresses.
‘For everyone who doesn’t know that he is a happy and healthy child, but physically he is slower than his peers. It is difficult for him to get up and down from the ground.
‘As it is a degenerative disease, I definitely feel it more now. “I’m aware that every movement he makes affects his body and we have a lot of physiotherapy and hydrotherapy and George has to wear these horrible night splints in bed,” Cathy said.
“For everyone who doesn’t know, he is a happy and healthy boy, but physically he is slower than his peers,” Cathy said.
George, who was recently diagnosed with ADHD, goes to preschool two days a week, but also regularly undergoes occupational speech therapy and psychology before starting school. He is also about to get his first wheelchair.
‘I think the wheelchair will help him. For many their condition is invisible, but this will nip it in the bud and it will be obvious.”
Despite the immense obstacles the family has overcome and now faces, Cathy remains positive.
“It’s not the life I thought I would have, but I’m grateful for everything we have,” she said.
“Drugs are our only hope”
A big goal for the family is to try to raise awareness of the condition and the family is very involved with the charity Duchenne Australia and Glenn is a board member of the charity.
This volunteer-run charity supports families receiving a Duchenne diagnosis in a variety of ways and connects families affected by the condition across Australia.
As Cathy knows firsthand, receiving a Duchenne diagnosis can be life-changing.
‘It’s hard to talk to newly diagnosed families, but I always recommend spending time grieving the idea of the life you thought you’d have for your child. There is still a life you can live,’ he said.
As there is no cure for this condition, the charity is approaching pharmaceutical companies for clinical trials that may be available in Australia.
Cathy with her husband Glenn, son George, five, and daughter
‘It’s difficult because of our geographical location, pharmaceutical companies don’t want to bring trials to Australia. Medicines are our only hope and our top priority is gene therapy.’
“In our community we don’t talk about a cure, but we hope that gene therapy will give us time, which in turn gives us hope.”
“We have a saying, ‘time is muscle,’ because every day I know George is damaging his heat and his lungs.”
The charity recognizes the benefits of early detection of the condition and although there are currently 350 on the Australian Neuromuscular Disease Registry with Duchenne, Cathy says the charity believes the number could be much higher.
“The disease affects one in every 5,000 male births.”
At the time of George’s diagnosis, Cathy was just nine weeks pregnant with her second child and, while the condition primarily affects men, she did not know the sex of her unborn child at the time, adding stress to an already difficult moment in his life. life.
“I was pregnant with my daughter at the time, but I didn’t know her sex. Although girls can carry the disease, it is not as serious as boys. We are pushing for more genetic testing to detect this disease, which is incredibly important”.
George will start school next year and will remain in regular education as long as he can.
What’s next for George?
“George is very social and that’s why we are excited for school to start.” Cathy shared.
The family wanted George to go to a public school and his local school in Sydney’s Ryde will make changes to ensure it is wheelchair friendly from next year.
‘We want him to go to a regular school. “We want him to have as normal a life as possible and we are going to hold him to the same expectations as everyone else.”
‘I’m so glad George is with us. “We just want to give him a really great life.”
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