A Mother's Conviction, Four Lost Infants, and the Genetic Puzzle That Baffles Us All

 A mother named Kathleen Folbigg who is convicted for killing her 4 infants

A sunny Wednesday morning in August 2018. Carola Garcia de Vinuesa is standing at her desk in Canberra, surrounded by papers. Her phone rings—it's a former student from the immunology department at the Australian National University, someone she doesn't know well but knows is smart. He's got a story.

In the past 10 years, he shares, a family in Australia lost four babies in their sleep. The oldest was just a year and a half. No violence, but in 2003, the babies' mom, Kathleen Folbigg, got convicted of smothering them. Now, at 36, she's considered Australia's most notorious female murderer, serving a 40-year sentence.

As the student unfolded the story to Vinuesa, he revealed a troubling detail: the trial against Folbigg didn't sit well with numerous medical and legal experts. They believed the prosecution had presented questionable medical evidence that unfairly implicated Folbigg. The gravity of the situation prompted Folbigg's legal team to seek a reassessment from the governor's office in New South Wales.

Vinuesa, unfamiliar with Folbigg until now, paced nervously as she absorbed the information. The former student, now a health lawyer, continued, explaining his involvement with Folbigg's legal team. He wondered if Vinuesa, utilizing her advanced genome-sequencing equipment for studying rare diseases, could lend a helping hand. Specifically, he asked if she would examine DNA samples from the four deceased children. Could her expertise uncover something pivotal for their case? Without hesitation, Vinuesa agreed to take on the challenge.

He emailed her a big bunch of case files, and Vinuesa quickly looked through them: reports about sickness, findings from investigations, papers that say how the kids died, and their health records. While reading, she noticed a few interesting things. One boy had a floppy larynx before he passed away, and a girl had a heart muscle problem. Vinuesa thought these could be reasons for sudden infant deaths, making her wonder why they were labeled as foul play. She closed the files, got back to work, and at 3 pm, she hopped into her car to pick up her two daughters from school. Being a single mom, she spent the next three hours taking them to soccer practice. Later that night, after her girls were busy with homework, Vinuesa relaxed on her sofa, opened her laptop, and carefully read the Folbigg family's medical records again.

Right away, Vinuesa noticed a connection to a case she had tackled just a month earlier. In a Macedonian family, four babies had passed away without a clear reason. When she scrutinized their DNA, she discovered three genetic mutations in the children, a combination that was almost certainly deadly. What made it even more unusual was its rarity – Vinuesa calculated a mere 1 in 64,000 chances of these genes showing up in four siblings. Now, as she scrolled through the Folbiggs' documents on her screen, Vinuesa couldn't shake the feeling that a similarly rare occurrence might have affected them.

That evening, she penned an email to Folbigg's lawyer, expressing her commitment to the cause. As she delved into the investigation, she believed her scientific expertise could lead the legal system closer to the truth. Little did she know that over the next two intense years, she would grapple with profound questions about her own life, both as a scientist and as a parent. In her email to the lawyer, she wrote, "As a mother, I cannot think of any more worthy cause to invest time and effort in. I find it hard to believe there is someone sitting in jail for this."

Kathleen Megan Briton entered the world in the winter of 1967, born into the working-class neighborhood of Balmain, Sydney. Her father, Thomas, worked as a hoist driver at the nearby docks, while her mother, also named Kathleen, toiled in a factory. Unfortunately, the family faced challenges; Thomas was prone to violence, and Kathleen Sr. struggled with alcohol. After a particularly brutal fight, Kathleen Sr. fled, leaving behind her 18-month-old daughter with Thomas.

A few weeks later, in a drunken fit of rage, Thomas confronted his wife in the street, insisting she return home. When she refused, he brutally stabbed her 24 times with a 25-centimeter-long carving knife. In a twisted display of remorse, he cradled her as she lay dying, kissing her face while awaiting the arrival of the police.

For a year, little Kathleen stayed with her aunt and grandma. Then, she went to a children's home and later to a new family in Newcastle, a coal mining town 100 miles from Sydney. This family fed and dressed her but wasn't very kind. Her foster mom would even hit her with a feather duster when she misbehaved. Her foster dad kept his distance. When she turned 17, Kathleen left school and moved in with a friend.

One weekend, while dancing at a club, she met Craig Folbigg, a nice 23-year-old forklift driver in town. They started dating, fell in love, and soon got a place in a Newcastle suburb. Craig, from a big Catholic family, had lost his mom when he was a teen. Both Kathleen and Craig wanted a stable life together.

In 1987, when Kathleen was 20, she and Craig got married. A year and a half later, in early February 1989, Kathleen had their first child, a boy they named Caleb. On February 20, Kathleen recalls waking up at 1:00 am to feed the baby and then going back to sleep. Around two hours later, she got up to use the bathroom and checked on Caleb, only to find him not breathing. In panic, she screamed, "My baby, there is something wrong with my baby." Craig rushed over, tried CPR, and instructed Kathleen to call an ambulance. Despite the efforts of paramedics, the baby couldn't be revived and was declared dead at just 19 days old.

The Folbiggs welcomed their second child, Patrick, a year later. When he was 4 months old, one night, Kathleen heard him coughing. She went to comfort him, and he went back to sleep. Around 4:30 am, she checked on him again, only to find him limp, blue, and not breathing. Craig tried CPR while Kathleen called for paramedics. They arrived swiftly, taking the baby to the hospital where he was revived. Doctors labeled it an "apparent life-threatening event," a mysterious syndrome affecting young children. Patrick, left with brain damage, experienced partial blindness and frequent seizures, requiring constant care. Kathleen, initially planning to return to work, chose to stay home as Craig took on a demanding job at a local car dealership.

About four months later, on February 13, 1991, Kathleen urgently called Craig at work. "It's happened again," she cried. By the time Craig reached home, Patrick had passed away at 8 months old.

In October 1992, Kathleen and Craig welcomed their third child, a girl named Sarah. This time, the Folbiggs decided to place Sarah's bed in their own bedroom to keep a vigilant eye on her as she slept. On August 30, 1993, Craig put Sarah to bed at around 10:30 pm. A few hours later, Kathleen went to check on her and listened for her breath. Hearing nothing, she switched on the light to find Sarah blue and motionless. Sadly, Sarah was declared dead at just 10 months and 16 days old.

Three years passed, and the Folbiggs moved to a new house, but their relationship was strained. Kathleen, feeling insecure about her weight gain, feared Craig might leave her. This worry led her to become obsessed with dieting and hitting the gym. The couple relocated once more, settling in a town an hour's drive west of Newcastle. In the midst of these changes, Kathleen, now 30, found herself pregnant again. Laura was born on August 7, 1997.

When Laura was 12 days old, doctors conducted a thorough medical examination, including blood samples, a sleep test, and checks for inherited metabolic disorders. Despite everything coming back normal, the Folbiggs were sent home with a heart monitor that sent data directly to the hospital. Laura, a calm and healthy baby, thrived. The Folbiggs celebrated her first birthday with a big party for the neighbors. However, around seven months later, tragedy struck. Kathleen put Laura down for a morning nap, and soon an ambulance was on its way. Paramedics discovered Laura lying on the breakfast counter, not breathing, and without a pulse. Laura passed away on March 1, 1999, at 18 months and 22 days old.

On the day Laura passed away, 31-year-old Detective Senior Constable Bernard Ryan, a clean-shaven officer, took on the case. Prior to that day, there had been almost no discussion about infanticide. Autopsies conducted on the first three Folbigg children concluded that each baby died from natural causes. Caleb and Sarah's deaths were linked to sudden infant death syndrome (SIDS), indicating unexplained but non-suspicious circumstances. Patrick's cause of death was determined as asphyxia caused by an epileptic seizure.

Laura's case differed significantly. Despite her autopsy revealing evidence of myocarditis, an inflammation of the heart muscle, the forensic pathologist labeled her death as "undetermined." This classification kept the possibility of foul play open. The pathologist noted, "The family history of no living children following four live births is highly unusual," emphasizing, "The possibility of multiple homicides in this family has not been excluded."

Two weeks after Laura's passing, Detective Ryan received a letter from the doctor who attended to Laura at the hospital where she was pronounced dead. Aware of the unfortunate history of Laura's siblings, the doctor proposed that Ryan contemplate a murder investigation into all four babies. Meanwhile, the Folbiggs grappled with profound grief. Craig succumbed to a debilitating depression, while Kathleen, attempting to cope with her pain, dedicated a significant amount of time to the gym. The couple sought solace in couples counseling, but by April 1999, just six weeks after Laura's demise, Kathleen decided to move into a separate apartment on the other side of town.

One evening in May, while tidying up Kathleen's things, Craig stumbled upon a diary she had written from June 1996 to June 1997. As he sat down and started reading, the entries unveiled a side of his wife that Craig had been unaware of. In an entry from October 1996, just before becoming pregnant with Laura, Kathleen reflected on past mistakes, stating, "Obviously, I’m my father’s daughter." A few months later, during a sleepless night, she expressed her guilt and fear: "My guilt of how responsible I feel for them all haunts me, my fear of it happening again haunts me... what scares me most will be when I’m alone with the baby. How do I overcome that? Defeat that?" Two months before Laura's birth, Kathleen wrote about her apprehension that she had repressed a troubling memory. "Heaven help the day they surface & I recall," she scribbled. "That will be the day to lock me up & throw away the key. Something I'm sure will happen one day."

As Craig read the diary, he felt a profound sense of nausea. A few days later, he brought the diary to the police station and sat down with Constable Ryan. During a comprehensive interview, Craig, for the first time, expressed some suspicion regarding Kathleen's account of Sarah's death. Ryan requested him to return four days later.

After the interview, Craig drove to Kathleen's new apartment and disclosed what he had done. For the first time, he accused her of killing their babies. Kathleen reacted by slamming the door in his face. Later, she drove to Craig's house and confronted him, expressing disbelief and urging him to tell the truth. When Craig returned to the police station for his second interview, he recanted his statements. Eventually, Craig and Kathleen reconciled, and she moved back in with him.

In July 1999, within a cream-colored interview room at the police station, Ryan questioned Kathleen for nearly eight hours. He read excerpts from her diary. Kathleen explained that these were expressions of the inadequacy and guilt that all mothers feel, compounded by the trauma of losing three babies. When Ryan inquired about her statement regarding being her father's daughter, she clarified that, in her view, her father was a loser, and she saw herself as taking after him.

Detective Ryan obtained a warrant to search the Folbiggs' house. During questioning, he asked Kathleen if she had more diaries. She claimed to have bought a new one the day before and handed it over. However, another officer searching the main bedroom discovered yet another diary. Kathleen asserted, "I didn’t know it was there; I thought it was gone."

This new diary covered the period between June 1997 and April 1998. While reading through it, Ryan stopped on a page dated January 28, 1998. Kathleen had expressed such anger at Laura that she "nearly purposely dropped her on the floor & left her." She continued, "I feel like the worst mother on this earth. Scared that she’ll leave me now. Like Sarah did. I knew I was short-tempered & cruel sometimes to her & she left. With a bit of help."

On April 19, 2001, officers arrived at the Folbiggs' house and took Kathleen to a police station, charging her with the murder of Caleb, Patrick, Sarah, and Laura. She was granted bail in May. Two years later, the case proceeded to a judge and jury at the New South Wales Supreme Court in Sydney. Throughout the seven-week trial, prosecutors contended that Folbigg had smothered all four of her children to death. Lacking physical evidence, the crown prosecutor heavily relied on the diaries. The prosecutor also underscored the sheer improbability of four natural infant deaths. Three medical experts testified they had never encountered or read about three Sudden Infant Death Syndrome (SIDS) deaths in one family.

The prosecutor's argument drew inspiration from British pediatrician Roy Meadow, who, from the 1970s, suggested that in cases of multiple unexplained infant deaths in a family, attention-seeking mothers were often to blame, coining the term Munchausen syndrome by proxy. In 1989, Meadow summarized this stance in a grimly memorable maxim—"One sudden infant death is a tragedy, two is suspicious, and three is murder until proved otherwise." He applied "Meadow's law" in various high-profile infanticide trials in the UK, including that of lawyer Sally Clark, whose two infant sons died within a few months of their births. Meadow testified that the chance of such a tragedy was 1 in 73 million, and Clark was sentenced to life in prison.

During Kathleen Folbigg's trial, the crown prosecutor didn't explicitly introduce Meadow's law into the courtroom, but its logic reverberated through his case. In his closing statement, he expressed that while he couldn't disprove four natural infant deaths in one family, he also couldn't disprove that "one day some piglets might be born from a sow, and the piglets might come out of the sow with wings on their back." After nearly nine hours of deliberation, the jury returned with a verdict: guilty. When she heard the verdict read aloud, Folbigg collapsed to the floor and wailed.

Folbigg was sent to a maximum-security prison outside Sydney, named Silverwater Correctional Complex. There, she was confined to her cell for 22 hours a day, both to protect her from other inmates—baby killers are often targets for violence in women's prisons—and to prevent her from harming herself.

For months, Folbigg's story remained a constant in Sydney's newspapers. Journalists unearthed intimate details about Folbigg's childhood, including the tragic story of her mother's death at her father's hand—information that had been excluded from the trial to avoid swaying the jury. A childhood friend of Folbigg’s named Tracy Chapman, a counselor, mentioned that Craig’s extended family and Folbigg’s own foster sister had disowned her publicly. After her imprisonment, Folbigg wrote a letter to her foster sister, expressing that she felt like "the most hated woman alive." Her foster sister handed the letter to a journalist at The Daily Telegraph, stating that she agreed with the court's verdict, calling her sister a "monster." Only a few close friends, including Chapman, stood by Folbigg. "She was seen as a liar, bitch, witch—and everyone bought into it," Chapman said.

However, on that last point, Chapman wasn’t entirely correct. Doubts existed. In the early 2000s, Emma Cunliffe, a law student at the University of British Columbia, was investigating the infamous case of Lindy Chamberlain, who in the 1980s claimed a dingo took her baby. Chamberlain was initially found guilty of murdering her daughter and later acquitted. Cunliffe's thesis argued that Chamberlain was found guilty largely due to her "strange behavior" following her child’s disappearance—her apparent stoicism, her decision to write “a dingo took my baby” in a visitor’s book in a local store. The prosecution had used those details to portray her as a bad mother. In her research, Cunliffe came across Folbigg’s case and obtained the trial transcripts. As she read, she started to observe similar dynamics.

In 2003, Cunliffe began a PhD program, focusing on wrongful convictions for unexplained infant deaths. She encountered a public statement by England’s Royal Statistical Society criticizing Roy Meadow’s testimony in the Sally Clark case. Meadow’s law assumed that multiple Sudden Infant Death Syndrome (SIDS) deaths arise independently within a family. The Society disagreed, stating, “There are very strong a priori reasons to suppose that the assumption will be false.” Genetic or environmental factors might increase the likelihood of a second case within a single family. In part due to this new evidence, Clark was released from prison in 2003. Her case prompted a review of 258 other cases where parents or caregivers were convicted of murdering infants on similar evidence, leading to the release of three women. In 2005, Meadow was struck from the British medical register, though this decision was later overturned by the High Court, which ruled that, despite being inaccurate, Meadow had “acted in good faith.”

Simultaneously, more research on SIDS was emerging, including documentation of several families who had lost three children with no foul play. In 2011, Cunliffe published a book called Murder, Medicine and Motherhood. In it, she wrote that Kathleen Folbigg had “suffered from a moment in history where unexplained infant deaths had been disproportionately blamed on the mother.”

By the time the book was published, Folbigg had spent nine years in prison and exhausted her rights of appeal in the court system. However, she still had another option: to directly petition New South Wales' attorney general to open an official inquiry into her murder convictions. To overturn the ruling, Folbigg and her legal team needed to raise doubts about the evidence presented in her original trial. In 2013, a team of lawyers in Newcastle, where the Folbiggs had lived, took on her case. They enlisted several medical experts, including Stephen Cordner, a renowned forensic pathologist at Melbourne's Monash University. Coincidentally, Cordner had reviewed Cunliffe's book when it was published and found its argument compelling.

Over the next 15 months, Cordner meticulously studied the medical evidence presented at Folbigg’s trial. He took note of Caleb’s floppy larynx, a condition that can make it difficult for an infant to breathe. Patrick had experienced seizures of sufficient severity to account for a sudden death. Sarah's case appeared to be an almost textbook example of Sudden Infant Death Syndrome (SIDS). Additionally, Laura’s case of myocarditis, when considered in isolation, seemed to be an uncontroversial natural explanation for her death, he thought. Cordner compiled his findings into a comprehensive 112-page report, arguing that the facts more strongly supported natural causes than smothering—the evidence for which was nonexistent. In a veiled criticism of the expert testimony from 2003, he wrote, “There is no merit in forcing certainty where uncertainty exists.”

In June 2015, Folbigg’s legal team submitted an official petition, which included Cordner's report, to the attorney general’s office in Sydney. The petition sat there for three years until, finally, on August 22, 2018, attorney general Mark Speakman announced that an official inquiry would take place the following year. A judicial officer, Reginald Blanch, a 75-year-old former District Court judge, would reassess the evidence.

Carola Garcia de Vinuesa received the call from her former student just days after the announcement that Kathleen Folbigg’s case would be reexamined. Since the legal team did not yet have access to the children’s DNA, Vinuesa initiated her investigations with Folbigg herself. She enlisted the help of a trusted colleague, a geneticist named Todor Arsov. In October 2018, Arsov visited Folbigg in prison, where he conducted a clinical history, took a saliva sample, and swabbed the inside of her cheek. A technician in Vinuesa’s lab extracted her DNA from the samples and subjected it to genetic sequencing.

On the last day of November, Folbigg’s genome sequence was ready for review. Vinuesa invited Arsov to spend the weekend at her house, where she lived with her two teenage daughters, so they could analyze the data and compare notes right then and there. That Sunday afternoon, the two scientists sat at the breakfast counter and opened the DNA file on their laptops. They sifted through the nucleotides that composed Folbigg’s genes, searching for any mutations that might indicate disease.

Half an hour later, they looked up at each other and said, almost in unison, CALM2.

CALM2 is one of three genes in the calmodulin family, which, among other things, regulate the heart's expansions and contractions. Vinuesa and Arsov had both identified a mutation in Folbigg’s CALM2 gene. This discovery seemed significant: Other calmodulin variants were associated with severe cardiac disorders and sudden death in infancy. The two scientists searched the medical literature for any mention of the mutation they’d just discovered and found nothing. They had no way of knowing if it was meaningful. Nor did they know if the children had inherited it. Even so, they felt they had stumbled on an astonishing lead.

Reading through the literature on CALM gene variations, Vinuesa learned that many of them were linked with Long QT syndrome, which can cause fast, chaotic heartbeats and can be life-threatening. When Vinuesa ran a simulation designed to predict the riskiness of a given mutation, the results suggested that Folbigg’s genetic quirk was likely also dangerous.

Vinuesa thrived on this detailed and creative work; she didn’t mind that she was doing it all unpaid and on her own time. According to Arsov, searching a genome for undiscovered variants and matching them to mysterious diseases is as much an art as a science, requiring a mind that is tenacious and open to oblique possibilities. Vinuesa, he told me, has a unique talent for such painstaking investigations. But there was something more at play than the joy of scientific discovery.

Carola Garcia de Vinuesa

Vinuesa’s father, a religious and austere lawyer who came from a lineage of Spanish judges, believed in serving society. For years, he worked as a state treasury inspector in Spain’s first democratic government, formulating policies to redistribute wealth in the young, post-Franco society. He loomed large in Vinuesa’s life, and when she was young, she made choices that echoed his. As a medical student, she worked in a leprosy clinic on the shores of the Ganges in Calcutta. After that, she helped train health workers in rural Ghana. When she was there, children were constantly being admitted to the hospital for meningitis; the disease had essentially no preventative measures. She decided her time would be better spent in a lab, hunting for the cause of the deadly affliction. “I craved to understand and not just to treat this disease,” she says. “What was needed was better research, not more doctors in Africa.”

At the University of Birmingham, in the UK, she investigated the biological mechanisms of meningitis and earned a doctoral degree in immunology. After graduating, she went to work at the Australian National University, to be near a man she’d fallen in love with. In 2014, she won a grant to open the Center of Personalized Immunology and became one of the first in Australia to use advanced genomic sequencing technology to hunt for links between disease and genetic variation.

By the time she started working on the Folbigg case in 2018, she had been awarded two of Australia’s most prestigious science awards, for discovering a variant associated with autoimmune disease. Professionally, Vinuesa had little to gain from spending her free time investigating the genome of a convicted killer. But seeing that mutation in the CALM2 gene triggered in her a sense of duty.

In December, Vinuesa finished her report on the CALM2 variant and sent it to Folbigg’s lawyers. They passed it on to inquiry officials in the government. Soon, Vinuesa was traveling to Sydney to meet with a handful of other scientists who had been assigned to the case. Officials with the New South Wales attorney general’s office had asked these scientists—some of whom worked for the government—to conduct a separate genetic investigation. Among them were Michael Buckley, a genetic pathologist; Alison Colley, a clinical geneticist; and Matthew Cook, Vinuesa’s longtime colleague at the Centre for Personalised Immunology.

The meeting, held in a government building in Sydney, began cordially. Gail Furness, a prominent barrister who was helping to lead the inquiry, explained that the purpose of the meeting was to determine what had changed in the field of genetics since 2003. Scientists now knew of many more DNA variants associated with sudden infant death; in fact, up to half of the deaths once considered unexplained could now be ascribed to a genetic cause. The experts agreed that a new genetic investigation was essential.

Vinuesa, eager to share her results on CALM2, told them what she’d found. To her surprise, she sensed in a few of the scientists in the room some conservatism—even animosity—toward her approach. Buckley, for one, argued that because Kathleen was healthy, the mutation was likely not dangerous. Vinuesa disagreed with that assumption. “For all we know, there could be something in Kathleen and she might have long QT syndrome,” she said. Buckley retorted: "I will base my submissions to the Inquiry based on published evidence rather than speculation."

Two months later, the geneticists gathered again in Sydney—and again they clashed. They were gearing up to analyze the children’s DNA, but they couldn’t agree on how to categorize any mutations they might uncover. Buckley proposed using criteria from the American College of Medical Genetics and Genomics: A gene variant would be "likely pathogenic" if the certainty that it causes disease is greater than 90 percent. Though she agreed at the time, Vinuesa found this a strange choice. In a clinical setting, when deciding whether a patient should undergo a certain treatment, the stringency makes sense, she thought. But this wasn’t a clinical setting. Vinuesa believed that her job was to see if the genetic evidence raised doubt as to the cause of death in any of the four children.

As the meeting went on, Vinuesa grew increasingly uncomfortable. Using Buckley’s proposed criteria would be limiting, and might exclude the CALM2 variant before they even knew what it did. Cook, Vinuesa's colleague, agreed with her assessment. During the meeting, Furness divided the geneticists into two groups: the Sydney team, led by Buckley—an employee of the New South Wales government—and the Canberra team, comprising Vinuesa, Cook, and Arsov. They would carry out separate analyses and write their own reports for the Inquiry. (All members of the Sydney team declined to comment for this story.)

In February 2019, the teams received the sequenced DNA of the four children, derived from blood pinpricks at their birth. The geneticists scoured the data. By March, both teams found in Laura and Sarah precisely the same CALM2 mutation.

Vinuesa and Cook wrote a report saying the novel CALM2 variant was “likely pathogenic.” The Sydney team called it a “variant of uncertain significance,” on the grounds that Folbigg and the two girls had not displayed any cardiac symptoms. Vinuesa was disappointed—to her, it seemed clear the children’s deaths themselves may have been the symptom.

In March, the Folbigg inquiry hearings began at the Forensic Medicine and Coroner's Court in Sydney's western suburbs. Vinuesa and several of the geneticists came to testify. The members of the Sydney team were seated on an elevated platform next to Blanch. Vinuesa and Arsov were instructed to sit to the side at a small table. She couldn’t help but feel “as if we were second class,” she says.

Furness, the lead counsel, stood in the middle of the room as she interrogated the scientists. With Vinuesa, she began by probing her credentials: Was Vinuesa qualified to make clinical diagnoses, or was she running a medical practice in Australia? She wasn’t. “So, you haven't been doing it from a clinical outcome perspective, is that right?” Furness asked, referring to her genetic assessments. “That's correct,” Vinuesa responded. “From a research perspective?” Furness continued. “That's correct.”

Vinuesa was rattled. It was true, she was not a clinician anymore, but she was a leading expert in the discovery of genetic disease. “I was introduced in a way that was disqualifying from the outset,” she told me. “I felt it, and I was so angry.” After grilling Vinuesa, the barrister did the same to Arsov.

A little while later, a pediatric cardiologist named Jonathon Skinner, who had assessed the cardiac health records of Folbigg and her children, was called to testify. At one point, Furness asked him about the CALM2 gene. Skinner responded that because Folbigg showed no evidence of cardiac disease, to suggest it had killed her daughters was “stretching credibility.” The hearing adjourned for lunch. When it resumed, Furness again questioned Arsov. He recounted how Folbigg had told him that as a teenager she had fainted during a swimming race and been dragged from the pool. Furness turned to Skinner: “Professor Skinner, does that mean anything to you?” He replied that sudden loss of consciousness, particularly while swimming, is a clear symptom of Long QT syndrome. "I think this is a really important event that we need more detail about," he said.

That evening in her hotel room, Vinuesa thought about the day with growing disquiet. Skinner himself had coauthored clinical guidelines on diagnosing Long QT syndrome, one of which was that a doctor should ask a patient about unexpected fainting while swimming. Vinuesa wondered if Skinner had been negligent. The next morning at the hearing, she brought up the swimming incident and drew attention to its clinical significance. But the Sydney team didn’t back her up. When it was Alison Colley’s turn to speak on the issue, the geneticist responded with a meandering comment about how Folbigg might have been dehydrated or overwhelmed. “It was so unprofessional,” Vinuesa told me.

In the weeks after her testimony, Vinuesa spent several sleepless nights going over what had happened in court. At one point, a member of the Sydney team emailed her to say that Furness, the lead counsel, told him the only result that mattered was that “neither you nor we found anything that clearly explained the four deaths.” The “clearly explained” was telling, she thought. The Sydney geneticists were looking for near certainty that a genetic flaw had killed the children, rather than merely reasonable doubt as to whether their mother was the culprit.

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Vinuesa had a different perspective. As a mother, she found it difficult to overlook the new evidence suggesting that at least two of Folbigg’s children might have died of natural causes.

One night, while at home and consumed by thoughts about the case, Vinuesa reached out to several cardiac geneticists, seeking their opinions on the CALM2 variant. Among them was Peter Schwartz, a cardiovascular geneticist at Italy’s Istituto Auxologico Italiano and an expert on life-threatening heart defects caused by mutations of the CALM genes.

Schwartz's response contained a bombshell: he had recently published a paper reviewing the International Calmodulin Registry, a comprehensive effort to catalog every person with a disease-causing mutation in the CALM genes. In his email, Schwartz mentioned a family with a variant in another CALM gene that closely resembled the Folbigg mutation. This family experienced cardiac arrest in two children aged 4 and 5, with one of them succumbing to the condition. The mother, who passed on the mutation, appeared to be healthy. Struck by the similarities between the two families, Schwartz expressed "significant doubts" about Folbigg’s conviction, suggesting that the accusation of infanticide might have been premature and incorrect.

Upon reading Schwartz's email, Vinuesa thought, "Oh my God, this is it." She quickly prepared a brief report and forwarded it to Inquiry officials, who shared it with the Sydney team. In early July, the Sydney team responded, acknowledging that the discovery of the other family with a similar CALM gene variant meant that the Folbigg variant was now considered "likely pathogenic." However, they maintained that it was not seen as a plausible cause of death for Sarah and Laura. They argued that the girls were unusually young to suffer from inherited cardiac arrhythmias, died while sleeping (while cardiac deaths typically occur during exertion or stress), and cited a recent cardiac assessment of Folbigg in prison that showed "no evidence of Long QT syndrome," as reviewed by Skinner.

Vinuesa, upon seeing the Sydney team's response, was frustrated. In genetics, explaining unlikely events was standard practice, and she believed that the Sydney team should have been more open to the possibility of a rare event. She expressed disappointment that they appeared to have made up their minds and were unwilling to consider the new evidence, stating that it went against the scientific method.

Vinuesa, in response to the Sydney team's arguments, began crafting a reply. Consulting the International Calmodulin Registry, she contended that every point made by the Sydney team was, in her view, either wrong or misleading. She identified nine reported cases of sudden cardiac death in infants below the age of 3, discovered that up to 20 percent of such deaths occurred during sleep, and identified five families where inherited CALM mutations were benign in some members and pathogenic in others. Vinuesa compiled her findings, feeling triumphant, and sent them to the Inquiry.

Reginald Blanch, the judicial officer overseeing the inquiry, faced the task of reaching a decision amid conflicting expert opinions from the Sydney and Canberra teams. In his decision delivered in July 2019, Blanch expressed a clear subjective preference, stating, "I prefer the expertise and evidence of Professors Skinner and Kirk and Dr Buckley."

Returning to the diaries to finalize his decision, Blanch highlighted an exchange during the inquiry where Folbigg was cross-examined about diary excerpts. After reading the passages, he asked, "You did kill them all, didn’t you?" Folbigg, tearfully, denied the accusation, stating that the diaries reflected her struggles with depression and difficulties. Blanch, however, found her response "simply unbelievable" and concluded that the diaries amounted to "virtual admissions of guilt." Folbigg would remain in prison.

When Vinuesa learned that the inquiry report had been released, she hesitated to read it immediately. Choosing to wait until the end of the day, she bought a coffee, found a quiet spot in the university's medical school, and opened the 500-page report to Blanch's decision. As she read it, she was taken aback. Later that night, she woke up in tears. The thought of Kathleen Folbigg, if truly innocent, enduring such immense suffering was overwhelming for Vinuesa. Despite the geographical and cultural differences between them, Vinuesa felt a profound connection to Folbigg's story, seeing reflections of her own experiences.

When Vinuesa's first daughter was an infant, she struggled with sleepless nights and constant crying. A pediatrician dismissed the concerns, attributing it to a "nervous mother." With the birth of her second daughter, Vinuesa faced the challenges of balancing motherhood with a burgeoning scientific career. Her dedication to research, coupled with the pressures of securing funding, led to personal sacrifices. Winning the Prime Minister’s Prize for Science brought a financial boost, which she used to hire a nanny, but it also marked a time of personal upheaval, including her divorce. Vinuesa experienced moments of loneliness, misery, and occasional resentment toward her role as a mother. Despite her love for her children, she grappled with feelings of exasperation and guilt.

The memory of those feelings had stayed with her. When she read Folbigg’s diaries, she didn’t perceive the writings as indicative of a criminal mind but rather as the reflections of a woman grappling with the occasional despair of motherhood. On some level, Vinuesa recognized that this personal connection was a significant factor in why she had dedicated almost all her free time over the past year to pondering Folbigg's case.

However, there was another aspect at play. Vinuesa possessed an obsessive streak, a trait that contributed to her success as a researcher. When scrutinizing a genome, she would extend her examination longer than others, delving deeper into scientific literature and manually filtering data instead of relying solely on algorithms. Her intense focus had led her to uncover the variant in the Macedonian family when others had abandoned the search. Vinuesa had built her career on scientific perseverance, occasionally at the expense of her personal life. She acknowledged, "I’m very hardworking. Sometimes too much."

The Folbigg case had consumed Vinuesa, who had recently marked her 50th birthday just before the conclusion of the inquiry, diverting her attention from other research endeavors and her family. Each evening after work, she found herself engaged in correspondence with Folbigg’s legal team or immersed in papers on calmodulin genes. This preoccupation took a toll on her relationship with her new partner, eventually leading to their separation. Vinuesa acknowledged, "My mind was somewhere else. He didn’t feel very appreciated." Having her work questioned by judges and lawyers struck a blow to her pride. Now, in light of the decision, she was expected to simply move on. The entire situation felt profoundly unjust, not only for Folbigg but also for Vinuesa herself.

A particular line from Blanch’s decision lingered in Vinuesa's thoughts: “I prefer the evidence ...” She grappled with the ambiguity of whether this meant the Sydney team's evidence was more compelling or whether it aligned with the judge's preconceived conclusion.

True to her nature, Vinuesa persisted in her pursuit of answers. She enlisted a biochemist in Denmark to conduct tests on the CALM2 mutation in a synthetic cell, a method known for its high predictability of real cell behavior. The results were unequivocal: under lab conditions, the CALM2 mutation exhibited lethality comparable to other calmodulin mutations that had caused sudden death in early infancy. Vinuesa shared these findings with various experts, including the clinician who had conducted cardiac tests on Folbigg during the inquiry. After reviewing the results, they collectively endorsed a research paper submitted by Vinuesa to Europace, the official journal of the European Society of Cardiology. The paper was published in November 2020. In response, Folbigg’s legal team appealed to the Supreme Court of New South Wales to contest the inquiry's conclusions.

Despite their efforts, the judges upheld Blanch’s decision.

Kathleen Folbigg's convictions for killing her 4 children overturned - The Washington PostKathleen Folbigg's convictions for killing her 4 children overturned - The Washington Post Kathleen Folbigg's convictions for killing her 4 children overturned

Facing exhaustion of legal appeals, Folbigg's legal team took their last recourse by drafting a petition to the governor of New South Wales, urging the application of the Royal Prerogative of Mercy. This entails seeking a pardon for Folbigg. The petition, supported by over 100 signatures, including those of eminent scientists, cardiac geneticists, and Nobel laureates, emphasizes that the new evidence related to the CALM2 variant raises substantial doubts about Folbigg's responsibility for all four children's deaths. The petition contends that refusing to consider the compelling scientific evidence in favor of subjective interpretations of circumstantial evidence would establish a perilous precedent.

Currently awaiting review in the office of the New South Wales attorney general, Mark Speakman, the petition underscores the consensus among scientists, including Vinuesa and her peers, that the science is unequivocal—CALM2 is now recognized in the medical literature as a genetic factor contributing to Sudden Infant Death Syndrome (SIDS). While the investigation of Folbigg's DNA has advanced scientific understanding, her personal fate remains uncertain.

In June of the current year, Vinuesa traveled from Canberra to the Clarence Correctional Center in Grafton, New South Wales, where Folbigg had been relocated, to meet her in person for the first time. Following an inmate attack, Folbigg spent the majority of her time in the prisoner protection wing. She wrote to a friend about the incident, stating, "No real damage done. Purple eye, few bruises, all because the women didn’t want ‘likes of me’ in their unit."

Vinuesa went through multiple security checks before being led into a large room. Two guards brought in Folbigg, whose once vibrant red hair had turned grey, and her loose curls were cut just above her shoulders. Both women, wearing face masks, sat across from each other, exchanging smiles through their eyes.

During their conversation, they discussed the inquiry, their shared disappointment, and the anticipation surrounding the petition. Folbigg expressed her satisfaction that the petition, her final attempt at securing freedom, had garnered support from numerous renowned scientists. However, she remained cautious and mentioned her plans to study to become a counselor, aiming to assist women dealing with grief after losing an infant. Vinuesa was struck by Folbigg’s composure, reflecting on how she herself might react in such a situation. Despite the challenges, Folbigg seemed remarkably composed. Vinuesa couldn't shake the feeling that she had somehow let Folbigg down.

In a few months, Vinuesa was set to leave Australia for a new position at a research institute in the UK. While she planned to stay connected with Folbigg's legal team if necessary, she also looked forward to a fresh start. Vinuesa shared her intention of saying goodbye on a more positive note, but Folbigg assured her that the petition alone had made a positive impact on her life in prison. Following its publicity, she received a letter from fellow inmates welcoming her to join them in the main section of the prison, as they believed in her innocence.

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