Single phone call that changed this boy’s life

A Canberra family had their world turned upside down when their little boy was six months old. Then it all changed with one phone call.

Jon and his mum Megan.

Megan and Andrew had done it all before.

The Canberra couple had two daughters before their son Jon came along, so they knew how to manage all the milestones.

But at just six weeks of age, their beautiful little boy started missing some. He couldn’t lift his head. He couldn’t roll over. And he wasn’t strong enough to cough or cry.

The devastating diagnosis that followed was, at the time, a death sentence.

He had a fatal and devastating condition known as Spinal Muscular Atrophy where the nerves connecting muscles to the body slowly die.

The advice from doctors hit like a sledgehammer.

“They said just take him home and love him until he’s gone,” Megan told news.com.au.

But the family was not ready to give up and a miracle came their way.

With the help of groundbreaking medical research, Jon was offered a second chance. He was one of the first people in Australia to undergo gene therapy — a one-off infusion worth more than $3 million helped his body make a protein that halts the disease.

Andrew, Jon and Megan are proof of the power of medical research.

Today, on Jeans for Genes Day, they want Australians to know just how much medical research can change a person’s life.

Megan still remembers vividly the phone call that changed their lives — they were told he was going to receive gene therapy.

“I just sat on the kitchen floor and cried because it was so surreal, thinking that our son was going to have this really new treatment that could really turn his life around,’’ Megan said.

Jon suddenly was able to turn his head and lift his arms, and while he uses a wheelchair for mobility, he can confidently move himself around.

“It’s still a tough road,’’ Andrew said. “But we do have him – that’s what the gene therapy has done – we still have him. It’s exciting for Jon, but it’s really, really exciting for children who are diagnosed at birth and are getting the gene therapy earlier. I mean, it is essentially a cure.’’

Megan said meeting the scientists at Children’s Medical Research Institute who are working on better outcomes for people with SMA was incredible.

Jon is a happy little boy.

His life was changed with one phone call.

“To go behind the scenes, and to see the research and talk to the people who are actually making these positive changes -it was really humbling to see what they were doing and how curious they were to hear how we were going. They wanted to see how they could keep improving it.

“I think the exciting thing is that what they’re learning through the trials with SMA can be applied then to a whole different range of diseases, and it’s really opening up realms of possibility of what can be done for genetic diseases.’’

She told news.com.au that Jon is thriving and is a happy, loving little boy.

“At age 4, he uses a wheelchair, he’s very confident in a wheelchair, he’s a better driver than most people on the roads,” she said.

“His speech is quite lacking. But other than that he’s very happy, very cute.”

She has a simple message for other parents going through health battles with their children. “Grieve and feel what you need to feel in the moment,” she said.

Mates.

“You never know what’s out there. Gene therapy was never offered to us because it wasn’t an option at the time and then suddenly it was.”

Jon’s condition still presents some real challenges. In March, Megan says they nearly lost him to a severe respiratory illness.

“It was really scary. He’s still quite vulnerable from a medical perspective. That’s where more of that research and awareness needs to come in to pick it up as early as possible.”

Jeans for Genes raises money for the vital work being done by the scientists at Children’s Medical Research Institute to find treatments and cures for diseases including epilepsy, cystic fibrosis, cancer, genetic blindness, and many more of the 7000 genetic diseases that impact Aussie kids.

For more information or to donate, visit the Children’s Medical Research Institute here.

Originally published as Single phone call that changed this boy’s life