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Health

Spinal muscular atrophy test for newborns to be rolled out in pilot trial

Michael and Rachel Dark with Rosie who was not screened for SMA and died at five months of age. (Supplied: Rachel Dark)

Newborns will be tested for a debilitating and potentially deadly hereditary condition as part of a pilot trial across Western Australia following the death of a Katanning baby.

Health Minister Roger Cook announced today that the "Guthrie", or heel blood prick, test will include screening for spinal muscular atrophy, a condition which effects about one in 40,000 newborns.

It follows lobbying from Katanning's Rachel and Michael Dark who lost their daughter Rosie to SMA type 1 in June at just five months of age.

Symptoms appeared at seven weeks

Current blood prick tests do not screen for SMA, with Rosie undiagnosed until she was seven weeks old.

Early detection is essential for treating SMA, which affects muscles which progressively weaken or waste, but if treatment can be administered before the baby showed symptoms its quality of life is greatly increased.

Ms Dark said it was pleasing the state government had listened to her concerns.

"Hopefully no other parents will have to go through this.

"We're really thankful the Health Minister and government has taken what we're trying to do on board and endeavouring to add this to the newborn test."

WA Health Minister Roger Cook said the SMA pilot trial screening would start immediately. (ABC News: Rhiannon Shine)

A similar trial is already underway in NSW and the ACT, with data from those studies to be added to WA's findings.

The condition left Rosie unable to use her arms and legs, and with difficulty breathing.

Test only costs $10, Nationals MP says

Roe MP Peter Rundle, who took the matter to Parliament on behalf of the Dark family, said the extra test only cost $10.

Mr Rundle said he was pleased the government had taken action.

"It's very encouraging for parents right around Western Australia," he said.

Mr Cook said the pilot trial screening would start immediately.

"We'll then look at the data coming out of it, to satisfy ourselves it's effective and provides a good screening," he said.

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