Cooper died on June 27, 2019. He had six months of bubble baths, music and nuzzling into his parents chests.

We ask ourselves: Why our child? Why is any child born with genetic conditions to parents who had no idea they even existed?', Mrs Tierney said.

Cooper Tierney died at 6 months old from mitochondrial disease caused by a genetic mutation on the gene REDFOX1.

This could happen to anybody. We never want to go through that again.

Earlier this year the Tierneys were among the first couples in Australia to undergo free genetic testing for more than 1300 genes linked to over 750 rare diseases parents can potentially pass on to their children.

Tuesday marks the official launch of the $20 million Mackenzies Mission trial.

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The landmark preconception carrier testing trial is unprecedented, screening 10,000 couples for conditions including, spinal muscular atrophy (SMA), cystic fibrosis, fragile X syndrome and Coopers mitochondrial complex 1 deficiency.

The trial is designed to pave the way for carrier testing for any couple who wants it, co-lead investigator Edwin Kirk said.

I am very hopeful and hugely optimistic that we will be able to make a huge difference for Australian couples, Dr Kirk said.

We are talking about potentially hundreds of children a year who are born with severe, sometimes lethal, conditions whose parents only find out they had an increased chance of that condition after the child is born.

Health Minister Greg Hunt has said he wants a national screening program within 10 years.

Jonathan and Rachael Casella hold their baby daughter Mackenzie who was diagnosed with SMA and died at seven months.

The federal government-funded trial is named after Rachael and Jonathan Casellas daughter, Mackenzie, who was diagnosed with the most severe form of SMA and died at seven months in October 2017.

Mackenzies story has driven all of us working on the project, Dr Kirk said.

This information enables couples who learn they share the same genetic mutation to make informed decisions about family planning and full reproductive choice. They are also spared a 'diagnosis odyssey'- the painful and protracted search for the cause of their childs mysterious illness in the hope of finding a treatment.

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Geneticists estimate everyone carries between three and five recessive genes for serious conditions. When both parents carry the same mutation, their child has a one in four chance of developing the corresponding genetic condition, and a one in two chance their child will be a carrier.

Would-be parents will be told they have a genetic mutation only if both individuals carry the same mutation for one of the conditions, roughly 1 per cent of the couples tested.

The trial is being coordinated by the Australian Genomics research network with laboratories in NSW, the ACT, Victoria and Western Australia.

Couples are recruited by participating GPs and other healthcare practitioners.

Investigators planned to eventually recruit pregnant women in their first trimester once they can be sure the COVID-19 pandemic will not delay test results.

The Tierneys jumped at the opportunity to participate in the pilot phase of the trial.

We are extremely thankful we were able to be part of this, Mrs Tierney said. It is very daunting looking into the unknown, but getting tested was the best thing we could have done for ourselves, for our children and for all the generations that come afterwards."

Cooper Tierney's parents hope his story will help inform other couples about the potential risk of genetic mutations.

Kate Aubusson is Health Editor of The Sydney Morning Herald.

Read the rest here:
'Why our child?': 10,000 couples to be tested for genetic mutations - Sydney Morning Herald

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