Australian states aren’t funding lifesaving $10 test for newborns

We fund high-cost lifesaving treatments for a deadly childhood condition but not the test to diagnose it.

Matilda Donald’s family was told she would never walk, let alone live long enough to start school.

But the plucky five-year-old will reach that magic milestone next February, thanks to a breakthrough medication.

Others will not be so lucky.

A $10 test that could prevent babies developing the same devastating muscle wasting condition, spinal muscular atrophy (SMA), is only being funded by one Australian state and the ACT.

For those living elsewhere, the genetic test costs an unaffordable $1000.

Spinal Muscular Atrophy Australia chief executive Julie Cini wants the simple heel prick test introduced nationally as part of regular newborn screening.

Two babies with the genetic condition, which stops nerve cells from working, causing muscle weakness and wasting, died in Victoria in the last year because they were not tested at birth.

Matilda Donald’s life was saved by a breakthrough medication. Picture: Richard Dobson

Those who survive are often unable to breathe, eat, move and walk — and most children rarely live to three years of age.

Paediatrician Dr Anita Cairns said treatment from birth was essential to allow children to lead normal lives.

“Once those cells have died, you can’t bring them back,” she said.

“So if you treat a baby before the baby develops symptoms, then they are likely to walk and they don’t need breathing and feeding support, and studies show some of them may even have normal development.

“It’s a game-changer, a complete game-changer.”

A pilot program in NSW and the ACT added a genetic test for SMA to regular newborn blood screens two years ago.

More than 200,000 babies have been tested, with 10 identified for early treatment.

“It’s changed the lives of those families. It’s a matter of life and death.” said Ms Cini, who lost two babies, Montana and Zali, to the condition.

The test was recommended by the Australian Government for inclusion in newborn testing regimes more than a year ago.

However, unlike the national pharmaceutical benefits scheme, state governments have to agree to fund the testing and buy new genetic testing equipment to carry it out. To date, they have not done so.

“My first daughter Montana, she basically wasted away before my eyes,” said Ms Cini, who has devoted her life to getting new treatments and tests funded.

“We’ve got some amazing treatments but we’re not using them to the best advantage.”

Hugo, Matilda and Seona Donald. Matilda (5) was diagnosed with SMA at 11 months. A $10 test that could tell if a newborn has Spinal Muscular Dystrophy is not offered to all babies. If it is not treated early the child could die before they turn 2. Picture: Richard Dobson

Matilda was diagnosed with type 1 SMA when she was 11 months old, years before tests were routine in her home state of NSW.

The condition left her with poor head control, hand tremors, a weak cry and difficulties with reflux.

But she was put on a trial for a breakthrough new treatment Spinraza and, within weeks, was singing Twinkle Twinkle Little Star and raising her hands above her head.

“We’re very lucky that I think Matilda is the only SMA type 1 and even the type 2 (less serious type) child in Australia that is walking,” her mother Seona Donald said.

She now loves playing with Barbie dolls but she can’t stand for long periods and will need a wheelchair at school.

Ms Donald can’t understand why state governments are not funding the genetic test for SMA as part or regular newborn screening.

A survey of Australian parents, expectant parents and grandparents commissioned by SMA and funded by Novartis found that eight in 10 parents want to know the risk of a newborn’s serious health condition and seven in 10 would be concerned if their state government didn’t make the test available.