Spinal muscular atrophy: Tragic tale of two babies called Oakley

They are both called Oakley, and they were both born with a rare condition - one in Queensland, the other across the border. Tragically, geography - and access to a $10 test - will explain why they will live very different lives.

Geography has played a tragic part in why two little girls called Oakley with the same devastating motor neurone disease will live very different lives.

A simple $10 newborn heel prick test for spinal muscular atrophy is offered to new parents in NSW but not in Queensland.

If diagnosed early, before symptoms appear, the disease can be managed with a drug called Sprinraza and children can thrive.

Without the test, a later diagnosis means the damage to motor neurons cannot be reversed and the children can go downhill rapidly, with loss of movement and unable to breathe or even swallow.

Oakley Atkins was born last year in NSW, and due to the heel prick test was diagnosed at one week old.

She has been receiving treatment and is thriving, hitting her milestones and a bundle of energy.

Oakley Gough is a Queenslander, and her case should be a carbon copy of her little interstate namesake, but she did not have the test and at just five months old, needs help breathing and feeding as her tiny muscles waste away.

Oakley Gough (left) and Oakley Atkins suffer from the same rare condition.

The glaring contrasts in the tale of the two Oakleys highlights the shocking gap in natal screening in Queensland and medics, MPs and parents are demanding the immediate introduction of the test in the Sunshine State.

The ACT is also successfully trialling the heel prick test.

Historically, the prognosis for children born with SMA was dire, with many children expected to pass away but new treatments are emerging and parents are seeing a glimmer of hope for their babies.

Sprinraza, which is injected into the spine, is proving successful at slowing the progression of the disease.

Oakley Gough’s mother Kate Gough, of Murarrie in Brisbane, said: “Early diagnosis is vital, and that is why (husband) Grant and I are fighting for the introduction of the heel prick test in Queensland.

“It won’t help our little Oakley, but it will help other parents.

“SMA can happen to anyone. We had no idea about the disease and how common it actually is.

“We were totally devastated by the diagnosis, but it was a knife to the heart to find out that a simple test could have made all the difference to our baby’s life.”

Ms Gough connected with Karah McLeod from the Hunter Valley when they both realised that their babies were born in the same year, had the same name and the same awful diagnosis.

“To see Karah and Jack’s little Oakley doing so well is a double blow,” Ms Gough said.

“]We are so happy for her, of course we are, but our Oakley is already going downhill fast.”

Within an hour of being diagnosed the tot was on a feeding tube and is now on breathing support.

“We weren’t given much hope for Oakley, but we know more about treatment and have become more hopeful that we will have her for longer than predicted,” Ms Gough said.

Mr Gough told The Courier-Mail the shock diagnosis and deterioration of Oakley has led to the couple seeing a psychologist.

“It just seems so sad that a $10 test could have made all the difference to Oakley’s life,” he said.

“This could happen to any parent, and I urge Queenslanders to sign the petition to get this screening happening.”

Ms McLeod said her heart ached for the Queensland Oakley and her family.

“It just seems so unfair that they are going through things so much tougher than they need to. SMA is the most awful disease and what the screening gave us was tremendous hope — hope that we can keep our Oakley’s body from deteriorating. She is doing well and we are so very, very grateful,” she said.

Grant and Kate Gough with Oakley, five months, and Arabella, 2. Picture: Nigel Hallett

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