When one-week-old Macy was having trouble feeding, working hard to breathe, and occasionally appeared limp, her parents, Kate and Jason, sensed that something more serious was going on. Despite their efforts to find answers, they were left with uncertainty and growing concern.

Determined to find answers, the first-time parents made the desperate decision to drive to the RCH’s Emergency Department in search of urgent care. Sadly, upon arrival, their worst fears were confirmed – the then 11-week-old Macy was showing signs that she was about to go into heart failure and it was uncertain if she would survive the night.

Fortunately, Macy stabilised enough for further assessment and genetic testing. She was diagnosed with generalised arterial calcification of infancy (GACI), an extremely rare genetic condition that causes an abnormal build-up of calcium in the walls of arteries and can restrict blood flow to organs – particularly the heart.

“GACI is so rare, there are only a handful of cases in Australia and about 200 cases worldwide. The doctors at the RCH told us they had only seen two children with the condition in the past 20 years, and sadly both of those children passed away in the first few months of life,” said Kate.

Little Macy

Thankfully, ground-breaking treatment options such as advanced therapies, have given the family newfound hope. This innovative area of medicine, which also includes gene and drug therapies, is rapidly changing how we treat some of the rarest and most complex conditions, including GACI. In fact, not too long ago, Macy was the very first child in Australia to access an advanced therapy drug treatment aimed at helping to stop the progression of her condition – potentially transforming her life in the years to come.

Thanks to the incredible generosity shown by philanthropy, including the RCH Auxiliaries, the hospital has been able to provide  world-class care and innovative treatments to patients in Victoria and beyond.

“Advanced treatments have gone from science fiction to real, lifesaving care. We’ve gone from telling families, ‘Your baby will die,’  to ‘Your child could live a normal life.’ That is the power of advanced therapies,” shared Macy’s treating clinician, Senior Neurologist, Associate Professor Andrew Kornberg.

“It’s the incredible generosity that we receive from across the community that allows us to deliver treatments that not only transform but also save lives,” shared Andrew.

Macy with her family

Now seven years old, Macy wants to also be a part of this wonderful community. “When Macy saw Andrew on the news, she went and got her money box and worked out how much she could donate. Macy’s reasoning was ‘she wanted to help Dr Andrew  because he has helped me so much, I want to give him more money so he can help more kids like me,”’ Kate shared.​