Kathleen Folbigg: Daughters may have died of ‘incredibly rare’ genetic mutation as imprisoned mom pardoned

Kathleen Folbigg was convicted of the murders of daughters Sarah and Laura and son Patrick, and the manslaughter of another son, Caleb. Twenty years later, a professor called the condition “rare” for her daughters.

Monday, June 5, 2023 at 10.24pm, UK

British scientists have found that an ‘incredibly rare’ genetic mutation may have been responsible for the deaths of two children after their mother, originally jailed for killing them, has now been pardoned.

Kathleen Folbigg was sentenced to Australia in 2003 of the murders of daughters Sarah and Laura and son Patrick, along with the manslaughter of another son, Caleb. The four died separately over the course of a decade, aged between 19 days and 19 months.

After her conviction, she was jailed for 30 years. But Folbigg, now 55, maintained her innocence of hers and insisted they had died of natural causes.

Evidence discovered in 2018 that both daughters carried a rare CALM2 genetic variant was one reason an inquest was called almost later, but that found no grounds for reasonable doubt.

A second inquest, launched in 2022, yielded new evidence suggesting the girls’ deaths were caused by a genetic condition.

The condition, now known to be called calmodulinopathy, led to Folbigg’s pardon.

Professor Carola Vinuesa, from the Francis Crick Institute – an independent charity, set up to be a UK flagship for biomedical discovery research – told Sky News how her team was able to uncover what may have been the real cause of the girls’ deaths.

“We found a genetic mutation in a gene known as CALM2. This protein is essential for regulating the heartbeat. If it doesn’t work properly, the heart will stop,” he said.

“It’s incredibly rare, this particular variant hasn’t been found before in the world, but it occurs in three genes that together cause a condition known as calmodulinopathy,” he said.

Kathleen Folbigg enters court in 2003

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“In the current registry there are only 134 cases of calmodulinopathy worldwide. It is very rare and extremely unfortunate that this family has had this particular mutation.”

Professor Vinuesa explained that only in 2008, five years after Folbigg’s conviction, did the technology exist to test genomes for genetic mutations that cause death, next-generation sequencing.

“Reasonable doubt” about Folbigg’s guilt

New South Wales Attorney General Michael Daley said the investigation launched last year had found reasonable doubt in each convictionadding that it is “impossible not to feel sympathy” for Folbigg.

She was released from a prison in Grafton, New South Wales on Monday, a decade before her prison sentence expired and five years before she was eligible for parole.

His convictions still stand for now, however, with the Court of Appeal still awaiting a final report of the inquiry which could recommend that they be overturned entirely.

Kathleen Folbigg in court in 2019. Photo: AP

The investigation was launched following a petition which counted scientists and doctors among its signatoriesclaiming “significant positive evidence” that the children had died of natural causes.

Caleb was born in 1989 and died 19 days later in what a jury called a manslaughter case.

Her second son, Patrick, was eight months old when he died in 1991; Sarah died at 10 months in 1993; and Laura died at 19 months in 1999.

Prosecutors told the jury at his trial that similarities in the deaths made coincidence an unlikely explanation.

They also said Folbigg, who was the only person home or awake when the children died, had used her diary to confess to the murders.

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But when it was discovered in 2018 that Sarah and Lara carried the rare CALM2 genetic variant, the original investigation into the convictions was launched.

They were confirmed at the end of the first inquest, with her ex-husband saying in remarks that his diary entries should continue to be treated as admissions of guilt.

Four children in a family dying of natural causes before the age of two was implausible, she argued.

Lawyer Sophie Callan said psychologists and psychiatrists have shown it would be “unreliable to interpret rumors in this way”.

Folbigg was suffering from severe depressive disorder and “motherly grief” when she entered the notes, she added.

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