Devastated parents call for Queensland to get life-saving medical test

The Darling Downs parents of a little girl diagnosed with a rare genetic disorder are calling for a medical test that could have changed everything for their daughter to be made available in Queensland.

FAMILY TIME: Kellee Clarkson and Jamie Clarkson hold their daughter Wynter, who is responding well to treatment after her Spinal Muscular Atrophy diagnosis

MERINGANDAN woman Kellee Clarkson said she feels guilt knowing one medical test could have changed everything for her daughter, Wynter.

At around four months old, doctors diagnosed the little girl with Spinal Muscular Atrophy type 1, a rare genetic disease that causes loss of motor neurons and muscle wasting.

"I had a normal pregnancy and a normal birth, and, from what they told us she was perfectly healthy," Ms Clarkson said.

"When she was a couple of months of old, my husband Jamie and I were wondering why she wasn't meeting some milestones. She wasn't lifting her head, and she was still floppy.

"We knew something was wrong, we did some research, and we came across SMA. The symptoms fit her like a glove."

From there it took intuition and determination, alongside months of doctor's appointments, to get the correct diagnosis.

"We were absolutely devastated when we found out," Mrs Clarkson said.

"Treatment began the next day because she had type 1, which is a very rapid disease with a quick decline.

"Children with the disease used to die before their second birthdays. There is now new treatment which is promising, but they still can't tell us her life expectancy."

In the case of SMA, time is of the essence, and Mrs Clarkson was heartbroken to learn a life-changing diagnostic test was available outside Queensland.

"In New South Wales and the Australian Capital Territory they have a pilot study where SMA is on the heel-prick test alongside other diseases and the children are getting early treatment,' Mrs Clarkson said.

"If it had been on the heel-prick, we would have found out when she was a week old, and treatment would have begun before any symptoms had shown, before any neurons were lost.

"I'm still very upset, it's unfair. I have to live with the fact that had she been treated three months earlier, her life would have been drastically different."

Now Mrs Clarkson is campaigning for awareness of the disease, which occurs in 1 in every 10,000 births.

"This is one of the leading causes of death in infants genetically. If that's the case why not tell parents this test is available, even if they have to pay for it," she said.

"It's the most horrific disease that your child could have."

Her family visited Canberra last month to advocate for the testing in Queensland.

Queensland Health previously told the ABC it was closely monitoring the screening trial in New South Wales and the ACT to determine whether the test was a suitable inclusion.