Alessia
When Alessia was born her parents had no idea she would make medical history that would not only change (and save) her life – it would impact every other child born with the same fatal genetic condition.
Alessia is one of the 2025 faces of Jeans for Genes the iconic fundraising day that supports the labs at Children’s Medical Research Institute so scientists can do work today to change lives tomorrow.
She was born perfect in the eyes of her parents Adriana and Adam but one call, when she was two weeks old, delivered devastating news. Alessia had become the first child in NSW to be picked up for Spinal Muscular Atrophy on the newborn screening test.
Mum Adriana said Alessia who had the severe form of the disease, was pre-symptomatic, and they had to act fast.
“The natural course of the condition is that the nerves connecting to her muscles would waste away, and it would affect her ability to sit up, to crawl, to walk, to meet all of her milestones, to the point where she would lose the ability to breathe,’’ Adriana said.
Ultimately it would take her life!
As a best case scenario, we were looking at a lifespan of two years."
As Alessia’s parents tried to comprehend this news – they were told something equally life-changing! NSW was taking part in a trial of a new gene therapy following its success overseas. With one injection, Alessia’s genetic error could be corrected within her cells, effectively curing her condition.
“I couldn't believe what I was reading with gene therapy," Adam said. “It was truly amazing. Reading about it was incredible, but then for it actually to be happening in front of our eyes was, next level."
Alessia slept through her gene therapy infusion and went home. Over the next few years her parents waited and watched as she reached many childhood milestones that should never have been possible, and today, she is a happy and healthy seven-year-old lacking only a small amount of muscular strength in her legs.
Gene therapy has been completely lifesaving and life changing,"
“To think that within the past 10 years, if you were given the diagnosis of severe SMA for your child, you knew that it was a death sentence.
You were told to go home and to love your child because they will not reach past their second birthday, if you were lucky. And now, Alessia is seven – that was unfathomable."
Professor Ian Alexander, who is head of CMRI’s Gene Therapy Research Unit, was involved in both the heel prick test being introduced in NSW (the first State in Australia to do so), and in the gene therapy trials coming to Australia. He and his team are now working on the next generation of gene therapies to improve the technology and hopefully expand it to other conditions.
“The majority of my career has been about the possibility of being able to treat children in the future and now the field has got to the point where that is possible and it’s incredibly exciting,’’ Professor Alexander said.
Jeans for Genes is one of Australia’s oldest charity days and this year it will move to the first Thursday in August – after finding that many of our capital city streets and offices are quiet on a Friday.
It may be on a different day but the challenge of finding treatments and cures for 1 in 20 Aussie kids with conditions like cancer, cystic fibrosis and other devastating genetic diseases remains the same.
Jeans for Genes Day allows labs to stay open, science to continue and lives to be saved.
Sign up now to fundraise your own way. You can Bake it Blue with a cake stall, do walking, running, skipping, or any form of exercise you like – or simply wear jeans just like millions of Australians have done for more than 30 years.