Newborns will now be screened for two extra health conditions

Newborns will now be screened for two additional life-threatening health conditions thanks to “lifesaving” new bloodshot tests.

Newborns will now be screened for two additional life-threatening conditions thanks to new bloodshot tests at the Victorian Clinical Genetics Services. Picture: Alex Coppel.

Newborns will now be screened for two additional life-threatening health conditions thanks to “lifesaving” new bloodshot tests.

Heel prick tests for spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) will be added to the list of 29 rare and complex diseases tested in newborn babies.

All parents are offered the tests within 72 hours of welcoming their new bub into the world.

Identifying SCID early will enable parents to access a new gene therapy trial delivered by the Murdoch Children’s Research Institute – the first time a cure has been offered in Australia.

For babies diagnosed with SMA, which causes progressive muscle wastage and weakness that is life threatening without treatment, early treatment could be the difference between life and death.

Baby Lasika receiving a heel test. Picture: Alex Coppel.

Victorian mother Adriana Baron, whose daughter Mariana was diagnosed with SMA type-one at three months old, said early and ongoing treatment had given her little girl a chance at living a full life.

“Her fourth birthday is coming up and not long ago SMA type one was a fatal diagnosis by 18 months,” she said.

“The fact that she walked independently by 18 months was a huge achievement.

“But we can only imagine what it can have been had she been diagnosed at birth.

“She could potentially be able to do what a typical four-year-old does today, which is running, climbing, jumping.”

There is currently no cure for SMA.

Mariana Baron, pictured with mum Adriana, was diagnosed with spinal muscular atrophy (SMA) type-one at three months old. Picture: Supplied

Early and ongoing treatment had given Mariana the chance of living a full life. Picture: Supplied

Mariana is about to celebrate her fourth birthday. Picture: Supplied

Paediatric neurologist at the Royal Children’s Hospital Eppie Yiu said the earlier the screening the more “remarkable” the differences.

“The earlier you treat the much better the motor outcomes,” she said.

“You still get some gains in strength if you’re treated three months of age, as you can see (with Mariana), but the differences are remarkable.”

Dr Yiu said she was anticipating that between 70,000 to 80,000 newborns would be screened in Victoria each year.

“We will aim to pick up seven to eight babies with spinal muscular atrophy per year,” she said.

Victorian Clinical Genetics Services CEO Martin Smith said the new testing “represents a significant milestone”.

“Now, every newborn in Victoria will be able to be screened for these two conditions within the first few days of life,” he said.

The development comes just one week out from the Royal Children’s Hospital Appeal which raised a record-breaking $23,061,320 last year.

Premier Jacinta Allan and Deputy Premier Ben Carroll visited the Murdoch Children’s Research Institute on Thursday to announce that the Newborn Bloodspot Screening Program was now available to all Victorian parents welcoming a new bub.

The state government invested more than $1 million to roll out the additional screening last year.

Mr Carroll said the heel prick tests had the potential to save lives.

“In some cases, this early detection and treatment can be life changing, it can actually save lives,” he said.