The first few days of a child’s life are usually filled with joy, excitement, and an imagination full of endless possibilities. But for Axel’s parents, that was overshadowed by fear. Just days after welcoming their newborn, they were faced with a devastating diagnosis – spinal muscular atrophy (SMA). 

“When Axel was born, he was so small and perfect. But just five days later, we received a call from the genetic counselor letting us know that he was at risk for neuromuscular disease,” Melitta, Axel’s mum shared.  

“We then did some blood tests and got the diagnosis of SMA confirmed maybe a week later,” she continued.  

SMA is a rare genetic condition that affects the motor neurons of the spinal cord, causing muscle weakness, damage, wasting (atrophy) and eventual loss of function. This disease, if left untreated, is the leading cause of death for children under the age of two.  

Fortunately, the Victorian newborn screening program allows clinicians to identify babies at risk of rare medical conditions, like SMA, with just a few drops of blood.  

This means that children like Axel are now able to access treatment before any symptoms develop, giving patients the best chance at survival and a regular childhood and brighter future.  

“Our target is to try and treat babies before they get weak or develop any symptoms of SMA. And because we’ve been able to do that with Axel, he’s developing, almost essentially, as we would expect for a child or a little baby,” emphasised Dr Eppie Yiu, a peadiatric neurologist and lead of The Royal Children’s Hospital Neuromuscular Clinic. 

Supported by philanthropy, the RCH Neuromuscular Clinic is the largest multi-disciplinary clinic in the hospital. It is a vital service for children with conditions like SMA, who require treatment from a range of different specialists. Critically, the clinic also provides access to advanced therapeutics, such as gene therapy, and best practice care in line with international guidelines.  

“We know that children with SMA are missing a particular gene called SMA1, so with gene therapy we can give that gene into the body, and it can do what it needs to do to prevent muscle wasting,” Eppie shared. 

Gene therapy is giving Axel and hundreds of other sick kids a newfound hope for the future. This groundbreaking treatment is not only helping children achieve milestones that once seemed impossible, like walking, but it’s also reducing hospitalisations, extending life expectancy and in some instances, providing a cure. 

“Axel is walking with a walker, pulling himself up on everything and opening every drawer. He’s already 13 months old, and without the treatment we would be halfway through Axel’s life – and that wouldn’t have been much of a life either,” Melitta shared. 

For families like Axel’s, gene therapy can be not only life-changing but life-saving. And while Australian sites can currently administer this transformative treatment, increased capacity and dedicated support can ensure that even more children at the RCH and beyond are able to access this revolutionary treatment.  

That’s why, this July, Senior Neurologist at the RCH, Associate Professor Andrew Kornberg, will embark on a fundraiser like no other – Fly for the Kids. In partnership with the Live Life Foundation, this fundraising adventure will ensure that even more children like Axel can access this life-changing treatment, helping transform lives for generations to come. 

“Advanced therapeutics will revolutionise care for all children. For instance, there are some children who will be cured from their disease if treated early enough, and others that will have their disabilities improved significantly,” Andrew shared. 

“Fly for the Kids is the start to making this happen, and we need people to contribute and come along on this journey with me to establish an advanced therapy service at the RCH,” he continued.  

To donate, please click here: https://flyforthekids.org.au/