Every child’s first Christmas is special, but for Alessia Sharpe just making it to that day was nothing short of a medical miracle.

For new parents Adriana and Adam, everything seemed perfect when their beautiful baby girl, Alessia, was born. She was healthy, bright-eyed, and already so curious about the world around her.

Her parents had imagined all the moments they would share—her first steps, her first birthday, all the milestones ahead. But then, just two weeks later, a phone call from the hospital changed everything.

Alessia had tested positive for Spinal Muscular Atrophy (SMA). They had never even heard of it before. The doctor’s words were a blur, but one thing stood out: without treatment, their little girl might not live to see her second birthday.

“Our whole world came crashing down,” Adriana remembers. “We had been so happy, and now, suddenly, we were being told we might lose her. I remember driving home, watching the world outside carry on as if nothing had happened, and I couldn’t understand how it could. How could everything still be the same when our world had just fallen apart?”

The fear was overwhelming. Alessia, who had seemed so alert and full of life, was now facing a terrifying reality. Her muscles would progressively weaken, and eventually, she would not be able to breathe on her own. It felt like there was nothing they could do.

“I wanted to crumble,” Adriana says. “But I knew I had to be strong for Alessia. I needed to do whatever it took to give her a chance. No matter how impossible it seemed.”

Alessia became the first child in Australia to receive a new gene therapy for SMA. That one injection gave something Adriana and Adam never thought they’d have again - hope.

But even with this glimmer of hope, the night before the treatment was filled with fear and uncertainty. Adriana lay awake, terrified of what the future held. What if it didn’t work? What if this was their only chance?

“Watching her in that hospital bed, with the treatment flowing into her tiny body, all I could think was, ‘Please let this work. Please let this save her.’”

And then, a miracle happened.

Alessia went home the very next day. Today, Alessia is six years old—still curious, still full of life, and with a love for puzzles. She’s living the life her parents feared she’d never get to experience, and it’s all thanks to research. Before the availability of this gene therapy, children with severe SMA didn’t make it to their second birthday.

But the fight isn’t over. While gene therapy saved Alessia’s life and has given her the gift of a normal childhood, there are still so many children who won’t have that same chance.

Some children are not eligible for the current SMA gene therapy. This is why, right now, researchers at Children’s Medical Research Institute in Westmead are working tirelessly on a new gene therapy - to make sure that no child is left behind.

“We owe everything to research,” Adriana says. “If Alessia had been born just a few years earlier, she wouldn’t be here with us today. But now we get to watch her grow up. I can’t imagine what I would have done if I had been told she was not eligible for the gene therapy.”

Right now, CMRI researchers are working to develop new treatments that can help children who do not meet the requirements to access the available treatment for SMA.

Imagine being told, “There’s a treatment, but your child is not eligible for it.”

If you’d like to donate to the work being done at Children’s Medical Research Institute in Westmead visit: https://www.cmrijeansforgenes.org.au/get-involved/appeals/alessia

Children’s Medical Research Institute (CMRI) is an award-winning state-of-the-art medical research organisation dedicated to researching the genes and proteins important for human development, health and disease. Affiliated with the University of Sydney, CMRI is supported in part by its key fundraiser Jeans for Genes® and the Luminesce Alliance and is located at Westmead, a major health and innovation precinct in Sydney, NSW, Australia.