Mum reveals $10 reason son can't have 'normal life'

The family have been able to access lifesaving treatment on compassionate grounds, Photo / Supplied

For Lykera Parker, seeing another child walk can trigger a pang of sadness.

Because she knows that while her son Kalarny is as bubbly and outgoing as any four-year-old, he will never be able to walk unassisted.

What makes it even harder for the 30-year-old mum is knowing that a $10 medical procedure is the difference between her son's condition now and the life he could have had.

"He could have had a chance at a normal life if it was detected early," Ms Parker told news.com.au.

At nine weeks, he underwent lifesaving heart surgery and two weeks later was diagnosed with spinal muscular atrophy. Photo / Supplied

At 11 weeks old, Kalarny was diagnosed with spinal muscular atrophy (SMA), with doctors telling Ms Parker and her husband Aaron Parker to go home and prepare for their son's funeral.

Today Lykera, from Mudgee, NSW, is calling for a test that could have detected Kalarny's SMA just hours after she gave birth to be made available to all babies born across Australia.

As first-time parents, the Parkers thought they had lucked out with a "very placid" baby when Kalarny was born in 2017.

"We just put it down to the fact that Aaron and I are very chilled, we just thought he was pretty chilled," Ms Parker said.

But the couple soon became concerned by the fact that Kalarny would always go straight to sleep after being fed, seemed "floppy" and couldn't lift his head during tummy time.

At his six-week check-up Kalarny's GP expressed concern that the newborn was having trouble breathing and ordered more tests to investigate.

When Kalarny was just eight weeks old he was rushed from a paediatrician appointment to hospital after showing signs of heart failure.

A week later Kalarny underwent lifesaving heart surgery at The Children's Hospital at Westmead.

When Kalarny was born in 2017 first time parents Lykera and Aaron Parker considered themselves lucky to have such a 'placid' newborn. Photo / Supplied

Then, two weeks following the surgery, specialists diagnosed Kalarny with SMA.

SMA is an inherited, genetic condition which affects the nerves in the spinal cords which control all of the muscle movements of the body, including the muscles of head control, arm and leg movement.

When SMA isn't detected shortly after birth the condition can cause irreversible damage to motor neurons, and even death.

"(The doctor) said, 'He's got spinal muscular atrophy'. We'd never heard of it before," Ms Parker recalled.

"He said, 'It means that your child will not live.' Of course we were devastated and he pretty much told us to go home and plan a funeral, as there was nothing they could do."

Fortunately the Parkers were able to access medical treatment that had not yet been approved in Australia on compassionate grounds which has saved Kalarny's life.

As part of his treatment for SMA, Kalarny has undergone multiple surgeries, gets lumbar punctures every four months as well as a different kind of therapy every day.

'A normal child that's trapped inside a baby's body'

Kalarny relies on a wheelchair or walking frame to move around, however he tires quickly when using the frame to move.

Today Kalarny is a happy and bubbly four-year-old. Photo / Supplied

"You've pretty much got a normal child trapped inside a baby's body," Ms Parker said.

While Ms Parker feels incredibly lucky that her son is still alive, it's also difficult to come to terms with the fact that had a test for SMA been done shortly after Kalarny was born in 2017, things would be different.

In Australia, parents of every newborn are offered a routine heel-prick blood test to check babies for genetic illnesses such as cystic fibrosis.

"We're happy for the parents that have access to it, it brings you to tears seeing how well they are doing and how much of normal life they (have)," she said.

"But as a parent your heart breaks when you see another child taking a step because they had intervention before they got too weak."

As part of SMA Awareness Month, SMA Australia is calling for the newborn heel-prick test to include SMA detection for all Australian newborns.

"$10 is nothing in the scheme of a child's life," Ms Parker said.

"Every child deserves to lead a happy and fulfilling life without having to be trapped essentially in a baby's body, not being able to breathe, not being able to eat. It just takes everything away from them."

Screening for SMA has been included in the test since 2018 as part of a trial in New South Wales and the ACT.

The SMA test costs around $10.

In Australia, newborn tests currently only screen for 25 conditions compared to the US state of California, which tests for 80.