As Kathy and Glenn Stalley watched their 18-month old son George get up off the floor in a paediatrician’s office, they were thrilled.
Although the little 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 up off the floor all by himself seemed like an achievement.
However, George had used a number of his limbs to get up. This one detail triggered immediate alarm bells to his doctor who ordered urgent blood tests.
When they came back the doting parents were handed news they never expected. Their little boy had Duchenne muscular dystrophy.
Duchenne is the biggest genetic killer of boys but although the genetic disorder affects one in 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 it my gut that 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 prior to George’s diagnosis, there hadn’t been any real red flags regarding his health.
‘George was a seemingly normal baby. He was a little bit behind with some of his gross motor skills at some points. But then he seemed ahead with others, he was one of the first to sit in my mother’s group.’
‘He couldn’t get from lying to sitting and then later although he could stand, he couldn’t get from sitting to standing up. He seemed to struggle with the transitions,’ Cathy said.
‘We weren’t worried. The GP wasn’t worried, George was meeting all of his milestones.’
But when George was eight months old, Cathy decided to get a private physiotherapist for a few sessions with her son, but at this point nothing was detected.
By the time George turned one, the mum-of-two wanted specialist help but initially doctors weren’t concerned.
‘At his 12 month check up I said I’d love to see a paediatrician, but I was dismissed by the GP. Two weeks later I went back and demanded the referral. Again we were not worried, I just wanted reassurance.’
It took a further six months for a diagnosis at the paediatrician’s appointment. George 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 about her son’s diagnosis, Kathy did what most in her position would do. ‘I Googled it and the first thing you read is that 16 is the life expectancy, but in fact now it’s actually late 20s.’
Duchenne is a degenerative disorder that sees a person with the condition experience progressive muscle damage and a loss of muscle function and strength.
This muscle damage occurs because there is a lack of dystrophin, a protein found in the muscle cells, which functions as a shock absorber for the muscles.
Because those who have Duchenne cannot rebuild this protein like other people can, this leads to progressive damage of muscles all around the body, including vital organs.
I’m running for George, because he can’t
Family friend of the Stalleys, Cameron Nicholls, is undertaking an ultra marathon in October, to raise funds and awareness for Duchenne Australia.
The father-of-four and business owner gets up in the early hours of the morning to fit in his lengthy training sessions around his busy family and work life and his goal is to raise $25,000 for the charity, which provides much-needed support to many families who are affected by Duchenne.
Cameron Nicholls (right) is running an ultra marathon in an attempt to raise $25,000 for Duchenne Australia in honour of George
Cameron said: ‘George is such a big personality and he’s such a cheeky little thing, we just love him. The strength of this beautiful family inspire me every day and I’m lucky I have the chance to push my physical limits to help raise awareness and funds for this incredible charity.’
’80km may seem a long way and waking up at 3am to train can be tough, but George inspires me every step of the way. He doesn’t have a choice so there’s no excuse for me not to push through and get it done. George is all the inspiration I need to undertake this challenge.’
Cathy said: ‘We are so incredibly proud of Camo. The acknowledgement of George’s disease is amazing and we know our friends want to help. He’s got a huge feat to undertake and he has doubled up on his challenge by committing to such a large fundraising number. We’re proud to be his friend.’
To donate to Cameron’s fundraising page to support Duchenne Australia, click here
What life is like now
George is now five years old, starting 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.
‘To everyone who doesn’t know he is a happy and healthy little boy but he is physically slower than his peers. He finds it hard to get up and down off the floor.’
‘As it is a degenerative disease I am definitely feeling it more now. I’m aware that every move he makes is affecting his body and we have lots of physiotherapy and hydrotherapy and George has to wear these horrible night splints to bed, ‘ Cathy said.
‘To everyone who doesn’t know he is a happy and healthy little boy but he is physically slower than his peers,’ Cathy said
George, who has recently been diagnosed with ADHD, goes to preschool two days a week but also undergoes regular speech occupational therapy and psychology ahead of starting school. He is also about to get his first wheelchair,
‘I think the wheelchair will help him. To many his condition is invisible but this will nip it in the bud and it will be obvious.’
Despite the immense hurdles the family have overcome and despite the ones they now face, Cathy remains positive.
‘It’s not the life I thought I would have, but I’m grateful for everything that we do have,’ she said.
‘Drugs are our only hope’
A big focus for the family is trying to raise awareness of the condition and the family are heavily involved with the charity Duchenne Australia and Glenn is a member of the board of the charity.
The volunteer-run charity supports families who receive a Duchenne diagnosis in a number of ways and connects families affected by the condition all over Australia.
As Cathy knows first hand, receiving a Duchenne diagnosis can turn your life upside down.
‘It’s hard to talk to newly diagnosed families but I always say to spend time to grieve the thought of the life you thought that you would have for your son. There is still a life that you can live,’ she said.
As there is no cure for the condition, the charity reaches out to pharmaceutical companies looking for clinical trials that might be available in Australia.
Cathy with husband Glenn, son George, five, and their daughter
‘It’s hard because of our geographical location, drug companies don’t want to bring trials to Australia. Drugs are our only hope and our main priority is gene therapy.’
‘We don’t talk about cure in our community but hopefully gene therapy will give us time, which in turn gives hope.’
‘We have a saying ‘time is muscle’ because every day I know George is doing damage to his heat and his lungs.’
The charity recognises 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 believe the figure could to be much higher.
‘The condition affects one in 5,000 male births.’
At the time of George’s diagnosis, Cathy was just nine weeks pregnant with her second child and whilst the condition mostly affect males, she didn’t know the sex of her unborn child at this time, which added stress to an already difficult time in her life.
‘I was pregnant with my daughter at the time, but I didn’t know her sex. Whilst girls can carry the disease, it’s not as bad as boys. We are pushing for more genetic testing for the condition, which is incredibly important.’
George will start school next year and will be in mainstream education for as long as he can be
What’s next for George
‘George is really sociable and so we’re excited for him to be starting school.’ Cathy shared.
The family wanted George to go to a public school and his local school in Ryde, in Sydney, will be making changes to ensure it is wheelchair-friendly ahead of him starting next year.
‘We want him going to a mainstream school. We want him to have as normal a life as possible and we are going to keep him to the same expectations as everyone else.’
‘I’m so glad that George is with us. We just want to give him a really great life.’
For more information visit Duchenne Australia.
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