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folbigg was sent to prison in 2003 for the murders of patrick, sarah and laura and the manslaughter of caleb, all of whom were between the ages of 19 days and 18 months at the time of death, according to cnn . a jury concluded the children — who all died in their sleep — had been smothered to death by their mother. genomic testing conducted in 2020 , however, revealed the children may have actually died from complications caused by genetic mutations.
sudden infant death syndrome is an umbrella term used to describe the unexplained death — usually while sleeping — of a healthy baby who is less than a year old, according to the mayo clinic . sids is the leading cause of death in infants between the ages of one and 12 months of age, although the majority of deaths occur between months two and four. roughly one in 2,000 canadian children die from sids every year. while the cause of death is typically unknown, it is believed that genetic factors may play a role in the devastating deaths.
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when folbigg was sentenced in 2003, genetic testing was in its infancy. by 2018, the situation had changed considerably, according to carola vinuesa , a professor and co-director at the centre for personalised immunology at the australian national university. at the request of folbigg’s solicitors, vinuesa was part of a team that conducted genetic testing on the mother. a cheek swab found folbigg possessed a previously unreported mutation of the calm2 gene. this gene, which is responsible for controlling the movement of calcium in and out of heart cells, is one of the most recognized causes of sids, vinuesa said.
this finding would eventually lead her team to conduct genetic sequencing of 20 year old blood samples from folbigg’s children. they found the girls possessed the same mutation to the calm2 gene, known as variant g114r. “we concluded this variant likely contributed to the natural deaths of the two girls by altering the heart’s normal rhythm, vinuesa said. “this may have been triggered by infections both girls had around the time they died and the medication they were given, which combined with their mutation, made them particularly susceptible to heart complications.”
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“then there was the notion of expertise. in the lead-up to the inquiry, i was expecting subject matter experts to be called to give evidence. but there was not a single expert in the genetics of heart arrhythmias, nor an expert in calm genes.”
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regardless of whether or not folbigg wins a pardon and regains her freedom, advances in genetic testing may soon provide answers and, perhaps, some measure of closure to other parents dealing with the sudden loss of a child. “in most families where there have been sids deaths, nobody has yet gone back and sequenced the genomes of the children,” vinuesa said.
“many families live in fear, because they’ve had two or more children dying and they’re worried that one day someone will be knocking at their door with some type of police investigation,” she said. “we know now that when you have a genetic condition … it’s not rare.”
dave yasvinski is a writer with healthing.ca
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