In villages across the United States, the Amish people live a peaceful and old-fashioned existence. In 2004, however, a series of unexplained tragedies began stalking the community. First, two children from the same family suddenly dropped dead – with more soon following. And for years, experts couldn’t figure out what had happened. Now, though, scientists have discovered the terrifying truth.
Yes, while the Amish mourned these inexplicable events, the death toll continued to heartbreakingly rise. And as the tragedy continued, investigators were still unable to find any obvious cause. According to autopsies, the young people appeared to have been in good health with no known afflictions or diseases. And so one question remained: what exactly had happened to these children?
By the end of 2019, moreover, a total of 18 Amish kids had passed away in similarly mysterious circumstances. In one family alone, four siblings had lost their lives. And despite the mounting body count, scientists just couldn’t get to the bottom of this macabre puzzle. Eventually, though, a clever breakthrough revealed all.
The strange case began near the southern Minnesota city of Rochester – an area that is home to a substantial Amish population. At some point in 2004, a young girl was playing innocently there, in much the same way as any other 12-year-old. Sadly, though, things quickly took a deadly turn.
For reasons that no one could understand, the girl suddenly died. Then, some months later, a similar tragedy struck the same family. Apparently, the child’s younger sister also abruptly passed away – again, while engaged in simple play. And as the stricken family mourned, experts raced to find explanations for the incidents.
Keen to solve the mystery, scientists performed postmortems on the two young girls. Ultimately, though, they were unable to pinpoint an obvious cause of death. And as time passed, more and more children began succumbing to the unknown condition. Yet as fear rippled through the Amish community, the answers that they so desperately sought continued to elude them.
Then, in 2010, the parents of the first two victims lost another youngster to what had become known as the Curse of Sudden Death. Horrifyingly, the following year saw a fourth sibling pass away, while similar incidents had also been reported from across Iowa, Delaware, Pennsylvania and Kentucky.
After the first deaths in 2004, however, Rochester’s stumped coroners had turned to geneticists for answers. Specifically, they reached out to researchers at the city’s Mayo Clinic – an institution at the heart of many pioneering programs. And there, the officials made contact with a laboratory specifically designed to solve cases just like the one haunting the Amish community.
At the Windland Smith Rice Sudden Death Genomics Laboratory, researchers explore the role that genetics plays in sudden fatalities. At first, though, the specialists were unable to get to the bottom of the Amish tragedies. And even though they had a suspicion as to what was going on, they couldn’t reach any definite conclusions.
Previously, the laboratory had researched a case in which an individual had died suddenly after engaging in exercise. And in this particular instance, researchers were able to determine that a mutated gene known as RYR2 had been responsible. So, given that the Amish deaths also occurred during active play, could the same genetic anomaly have been to blame?
At first, this theory didn’t seem to hold much weight. In fact, when researchers examined the RYR2 genes of the Amish children who’d passed away, they couldn’t find anything out of the ordinary. In addition, there seemed to be no evidence of genetic traits that may have caused the young people’s hearts to fail.
However, researchers admit that the methods used in this analysis were far from sophisticated. In fact, according to the laboratory’s director Michael Ackerman, the technology available during the period had limited them to a somewhat long-winded approach. Speaking to Popular Science in January 2020, he said, “Back in 2004, we analyzed one gene at a time.”
Meanwhile, Amish children continued to die at an alarming rate. In 2019 alone, the mysterious condition claimed at least four more victims, bringing the total up to 18 since 2004. But by this time, technology had improved, leading the experts to once again scrutinize the DNA of those that had been affected.
Then, on January 8, 2020, a team of researchers published a study in the medical journal JAMA Cardiology. And in an interview with CNN that same month, lead author David Tester explained the breakthrough that the group had made. “With more information and more technological advancement in terms of being able to look at genes, we were able to put this puzzle together,” he said.
As it turned out, the team at the Mayo Clinic had been correct in their initial hunch that RYR2 was to blame for the deaths. Simply put, this gene is responsible for encoding ryanodine receptor 2 – a type of protein found mostly in the muscles of the heart. And if something messes up this genetic material, it can lead to serious problems.
Previously, researchers had suspected that a minor genetic error in RYR2 could have been enough to cause these sudden deaths. Yet the truth turned out to be far more complex. Apparently, scientists discovered that the victims’ RYR2 genes each contained over 300,000 copied pairs rather than just a single mutation.
As Ackerman explained to CNN, “We finally figured out that it was an autosomal recessive condition where both bad duplications came from both parents, and those children were unfortunate to get the double dose.” Reportedly, this genetic anomaly can unknowingly be passed down through the generations, too – even if parents are in excellent health.
In fact, experts believe that the specific circumstances in which abrupt death occurs are only a possibility when a child inherits the mutation on both sides. And, apparently, the chances of this happening are just one in four. But why has the condition so greatly affected the Amish community of the United States?
Well, according to researchers, this may be because the Amish tend to keep to themselves and marry within their community. As such, their gene pool is somewhat narrow – making them more likely to inherit a recessive condition. In fact, today’s Amish are thought to descend from the same modest group of ancestors.
Furthermore, some Amish communities are even known to practice marrying within their own family groups, thus leaving them more prone to any genetic issues surrounding inbreeding. That said, it’s believed that some also deliberately practice exogamy – or marrying outside their circle – in order to reduce the risks of inherited health conditions.
In the study, then, Tester and his colleagues took samples from two Amish families who, at first, appeared to be unrelated. In fact, the only thing that apparently connected the clans was that both had lost children to the mysterious condition. Ackerman now suspects, however, that both groups were ultimately descended from the same ancestor.
But how exactly did genetics cause otherwise healthy young children to drop dead? Well, according to the study, the mutated RYR2 gene was discovered in each of the cases. And because every incident occurred after a bout of physical exercise, it can be assumed that the condition caused some fatal cardiac issue to develop.
Furthermore, the two families featured in the study also had a number of children who’d survived heart attacks. And in one case, as many as 15 siblings had exhibited symptoms of the genetic abnormality. But now that Tester and his colleagues have identified the culprit, what can be done to stop such tragedies from happening again?
To begin with, the Amish community may have to adjust their traditional aversion to many of the technologies that define contemporary times. Some Old Order groups refuse to use cars, for instance, preferring instead to travel in open-top buggies. Their homes are generally free of internet and television, too, as well as phones and even radios.
In some cases, though, Amish do make exceptions for technology deemed essential, such as telephones for emergencies or motorized wheelchairs. Still, this attitude has not always extended to the genetic diseases that have so often plagued their communities. In fact, many members simply categorize these conditions as being part of “God’s will.”
As a result of this belief, many Amish refuse to be examined to see if they exhibit any genetic abnormalities. And this includes the mutated RYR2 that could cause sudden death in their children. But according to Tester, it’s just this sort of screening that could prevent more tragedies from occurring in the future.
“Having this genetic biomarker [means that] we can now very easily test any individual for the presence of the mutation,” Tester told CNN. “Having that ability can potentially save lives.” And Ackerman agrees. According to him, identifying carriers of the condition is key to keeping other parents from suffering such heartbreaking losses.
If scientists can identify carriers of the mutated gene, Ackerman reasons, couples can choose to marry or not based on the potential risks. In fact, a similar approach is used today for people whose children are likely to inherit other genetic disorders such as cystic fibrosis. Armed with such information, individuals are then able to make educated family planning decisions.
But would the Amish – with their attitude to modern technology – eschew such an approach? Or might the curse of sudden death be enough to convince them to change their minds? Well, according to some, the community is not completely opposed to genetic research. In fact, they have been known to participate in certain programs in the past.
For example, in 2000 researchers at England’s University of Exeter launched the Windows of Hope Project. In essence, this represented an attempt to identify genetic conditions within the Amish community. And through their work with medical facilities in Ohio and Wisconsin, the specialists have been able to assist many families in finding long-sought diagnoses.
Before this work began, the researchers claim, many in the Amish community struggled to get to the bottom of the medical conditions that plagued them. In fact, within the target groups, fewer than 5 percent of individuals with genetic diseases had been accurately diagnosed. Now, two decades later, that figure is closer to 80 percent.
Amazingly, the team were able to identify a staggering 150 genetic conditions within the North American Anabaptist population. Of those, over 25 had previously been unknown to the scientific community. And now, given the better understanding of these disorders, sufferers and their families can hopefully get some answers at last.
In a January 2020 press release by the University of Exeter, the project’s Dr. Emma Baple was quoted as saying, “For many of the families we have worked with, the specific genetic cause of the disorder affecting them was not known to medical science prior to our research studies. Obtaining a diagnosis was very important for these families. Similarly, the knowledge learned from these studies was important for aiding diagnoses for other families worldwide affected by these conditions.”
Significantly, the data gathered by the Windows of Hope Project has also allowed medical professionals to develop less intrusive ways of testing for genetic conditions. In one case, for example, a particular complaint was found to be characterized by an oversized big toe. Ultimately, then, it became possible to diagnose a child simply by looking at their feet.
Elsewhere, members of the Amish community have participated in research concerning diseases such as Parkinson’s and Alzheimer’s. But for now, it remains to be seen whether or not some will turn to preventative tests. And, sadly, for those already suffering from the mutation identified by Tester and his team, there are few options for treatment.
At present, the only option available for children carrying the mutation is something known as an implantable cardioverter defibrillator (ICD). After this device has been inserted directly into the body, it uses an electrical current to regulate the beating of the heart. And as such, it’s a potential life-saver for those at risk of heart problems.
Ackerman explained to Popular Science, “The current only definite protection is an implantable cardioverter defibrillator, which is a very expensive piece of technology.” And while the Amish are apparently not particularly poverty-stricken, much of their wealth is tied up in property and land. Accordingly, a pricey cure could well be out of the reach of many families.
Yet despite the fact that many Amish have no health insurance, some have reportedly already had ICDs installed. In the meantime, researchers have been hard at work trying to establish if medication can be used to control the condition. As Ackerman told CNN, “We’re going fast and furious to try and get this figured out for this Amish community.”
According to Ackerman, the key to developing an effective medication is to understand exactly what causes the RYR2 gene to mutate. And up until that point, researchers have also been investigating existing cardiac treatments to see if any of those may help. It’s currently unclear, though, whether or not this approach could save lives.
Meanwhile, Ackerman says, health care professionals have been working closely with the affected families to help them make sense of the tragic deaths. “We finally have figured out the curse of sudden death for the Amish community,” he told CNN. “And they now have peace of mind as to the reason.”