Caboolture couple calls for Medicare to fund genetic counselling

A courageous couple, who lost their newborn to a debilitating genetic condition before her first birthday, have come through the agony to welcome two miracle sons, but they have a clear message for the government and other parents in their position.

Steve and Carolyn Pearce with four-year-old Josiah and two-year-old John, Tuesday, January 14, 2025 – Picture: Richard Walker

A Caboolture couple who lost a child to a genetic condition are calling for genetic counselling to be subsidised by Medicare after it saved their other children’s lives.

Carolyn and Steve Pearce welcomed Hannah in 2014, but she was diagnosed with Spinal Muscular Atrophy.

Mrs Pearce said her family had three months of “blissful ignorance” before the months of heartache and specialist appointments began.

“We spent her final months in a little bubble making memories, it was heartbreaking and beautiful,” she said.

Steve and Carolyn Pearce with four-year-old Josiah and two-year-old John, Tuesday, January 14, 2025 – Picture: Richard Walker

SMA, a condition affecting 1 in 10,000 Australian births, is also known as childhood motor neurone disease.

Hannah died after an eight-month fight, but Carolyn and Steve were determined to expand their family with genetic counselling support.

In 2019, Josiah was born SMA-free but carrying the gene.

“It was an agonising wait for the results to come back but it was such a relief, we didn’t have to worry about treatments and hospital,” Mrs Pearce said.

By 2022, they decided to try for a third child.

John was born in 2022 with SMA.

“We always pictured having three children and by this time there were three approved treatments for SMA 10 years later,” Mrs Pearce said. “We got back in touch with the hospital and found out our third baby also had SMA. The doctor … didn’t know about all of the treatment options and said we could terminate the pregnancy and start again – this was a difficult conversation.”

The couple continued the pregnancy and are now parents to two beautiful boys.

John, now two years old, receives treatment and is thriving, despite his condition.

“Our genetic counsellor was the difference between life and death for John – had we not had the guidance and information presented to us in simple terms, not medical jargon,” Mrs Pearce said.

Genetic counsellor Pauline McGrath said: “Carolyn was able to have the time to make those decisions. She saw me when she was pregnant and we organised a test for her.”

Human Genetics Society of Australasia president Yemima Berman said no family should have to make critical decisions linked to genetic conditions without expert support.

A Department of Health spokesman said that, after a review, a new body, Genomics Australia, was being established this year.

“Genomics Australia will provide the national leadership, co-ordination and expertise required to ensure all Australians can benefit from health genomics,” he said.

Originally published as Caboolture couple calls for Medicare to fund genetic counselling