That all changed when the Mudgee local discovered what she calls "the magic of research''.

Five years later, Kalarny Parker is one of the faces of the 2022 Jeans for Genes campaign which raises funds for the vital work being done in the labs at Children's Medical Research Institute.

A quiet baby who slept and fed well, Lykera and Aaron Parker thought they had "stuck gold'' with Kalarny.

However, when they took him to the doctor for a regular check-up, it was discovered he had a heart murmur and further investigation revealed his heart was twice the size it should be.

They were bundled into a plane to fly to the nearest major hospital for heart surgery.

"After heart surgery, he didn't bounce back,'' Lykera said.

"He still had work breathing and he was still quite floppy, he couldn't hold his head up, he couldn't lift his arm off the ground.''

Further tests revealed Kalarny had spinal muscular atrophy - a fatal condition where every muscle in the body slowly dies.

"It was devastating,'' Lykera said.

"I had no idea what it was, no history on both sides. The doctor said it's a degenerative disease and he will not survive past the first year of his life.

"I couldn't even look at Kalarny for a long time. I didn't want to get attached to him. I thought 'he's going to die, what's the point of this?' But you had to switch that frame of mind.

"I didn't want him to see me as that sad mother that looked at him and cried every time.

They then met a specialist who told them of an overseas drug trial, and Kalarny was accepted within 24 hours. He now has injections into his spine every three months, which is keeping him alive.

"It's dreadful but he says, 'I need to go for my muscle juice.' And he says, 'I've had my muscle juice now, I'm gonna get big and strong, like Daddy'. It's quite beautiful," Lykera said.

"He's the happiest kid in the world. He's just got a beautiful personality. He takes life by the reins and goes with it.

"He has a motorized car that he drives around, he's nearly rolled that thing. But that's just being a country kid. There's no holding him back."

Lykera is on the Mudgee fundraising committee for CMRI because she knows that the Gene Therapy Research Unit are part of a team running successful gene therapy trials for kids with SMA.

Completely different to the medicine that Kalarny receives, these patients have one simple injection to cure them for life.

Kalarny was born too early for the trials, but the family hope one day this could save the life of every child with SMA.

"These children are living a normal life, no wheelchairs, no ventilation support, no feeding support, they're living normal lives,'' Lykera said.

"There's so much hope it blows my mind. It's life changing. It blows my mind that if we were to have another child that had SMA, having gene therapy at birth could mean this child would not show any signs of SMA.''

She encourages people to support Jeans for Genes to save lives like Kalarny's.

"You're saving a child's life; you're giving someone that glimmer of hope that they will get to watch their child grow up. Without donations, these kids may not have the chance to live a happy life," Lykera said.

"I think it's important for us to show people the magic of what medical science can achieve. Look at Kalarny - magic happens."

Jeans for Genes Day is on Friday, August 5. Sign up to start fundraising or donate any time at JeansforGenes.org.au.

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