At Sydney Children’s Hospitals Foundation (SCHF), we are driven by stories like John’s—proof that bold ideas in research can change a child’s life.

At eleven years old, John is a bright and bubbly pre-teen who lights up every room with his infectious smile and playful energy. He is currently obsessed with his mum’s old CD collection, exploring vinyls and has a growing passion for capturing live music through his camera lens. His world is filled with creativity and curiosity.  

But behind it all is a diagnosis that changed his life—and his family’s—forever, and a journey marked by the courage to pursue something more.  

In 2019, when John was five years old, his parents noticed he was limping and took him to their local paediatrician.  

“The diagnosis was absolutely devastating – it was such a shock. When we found out it was Duchenne muscular dystrophy, everything changed,”
— Bryony, John’s mum

Duchenne muscular dystrophy (DMD) is a rare and progressive genetic disorder that primarily affects boys, gradually weakening their muscles including the heart and lungs. By adolescence, many lose the ability to walk. Over time, they require support with everyday tasks, and eventually, round-the-clock care. The average life expectancy remains at just 29 years.  

“There is no cure,” Bryony said. “The first thing we did was start researching what we could do to help him. That’s when we realised just how serious it was.” 

As part of his treatment, John receives monthly infusions and has regular blood tests. He also undergoes weekly hydrotherapy, physiotherapy, occupational therapy and takes daily steroid medication. While he remains mostly independent, day-to-day tasks like doing up buttons, reaching shelves or drying himself after a shower require help.  

“It’s tough watching him struggle with things other kids find so easy,” Bryony said.  

Now, six years on from his diagnosis, John is enrolled in a clinical trial made possible through the Kids Advanced Therapeutics (KAT) program at The Sydney Children’s Hospitals Network (SCHN), proudly supported by Sydney Children’s Hospitals Foundation and Luminesce Alliance. The trial is testing an exon skipping therapy—one of the first early-phase trials of its kind in Australia, designed to slow the progression of DMD by targeting specific genetic mutations.  

“While the standard medications are only moderately effective and have considerable side effects, new therapies like exon skipping offer the potential to decrease the severity of this condition,” Dr Michelle Lorentzos, Advanced Therapeutics Medical Lead and Paediatric Neurologist, SCHN, said.  

The KAT program was developed to fast-track access to potentially life-changing therapies, like this, for children and young people like John, with rare and complex conditions. 

“Trials like this are incredibly important, but they carry complexities and risks. That is why the KAT program exists. To ensure trials are delivered safely, ethically and with the child’s best interests at the centre,”
— Dr Michelle Lorentzos, Advanced Therapeutics Medical Lead and Paediatric Neurologist

For families like John’s, the KAT program has created a supportive environment to navigate what is often an emotionally and physically exhausting process.  

“It’s hard to stay hopeful some days,” Bryony said. “But finding this community has made a huge difference. We share our questions, experiences and most importantly our hope.” 

Early signs from the trial are promising. John is responding well to the treatment and results suggest it may help him stay stronger for longer. He recently returned to swimming lessons and is excelling in the pool.  

“We are so proud,” Bryony said. “It’s a huge achievement for any child, let alone one with Duchenne muscular dystrophy.” 

For John’s family, being part of the trial is a privilege, one that may not have been possible without the KAT program.  

“As parents of kids with Duchenne muscular dystrophy, we’re all waiting for a miracle,” Bryony said. “This is a step towards one and we’ll take every step we can. This trial brings us closer.” 

The current timeframe for research to move from the laboratory bench to the hospital bedside is around 17 years. Programs like KAT are designed to help accelerate this timeline, ensuring children and young people in Australia have timely access to the world’s most promising therapies—safely, ethically and without delay. 

“Families want choices,” Dr Lorentzos said. “They want to know that if a potential treatment exists, they won’t have to wait years or leave their country. Through the KAT program, we’re helping ensure they don’t because while innovation matters, nothing matters more than the child.” 

Your donation can help support groundbreaking advances in paediatric healthcare and the lasting impact they will have on children and young people, like John, and their families.