Beyond the Grave: Mind-Blowing Skeletons That Rewrite the Book of Life

At a site called Poulnabrone, on the west coast of Ireland, archaeologists found the skeleton of a baby with Down syndrome who died nearly 4,000 years ago — the oldest confirmed case of Down syndrome.

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Geneticists have discovered that a baby buried almost 5,500 years ago had the extra chromosome that causes Down syndrome by analyzing DNA preserved in his skeleton. Researchers say the finding, published Wednesday in the journal Nature, is the oldest confirmed case of Down syndrome.

Babies born with Down syndrome typically have distinctively-shaped eyes and skulls, which the authors of the Nature paper suggest might have set him apart as an infant. Chemical analysis of his bones shows he was breastfed, and when he died at about six months old he was buried in a monumental tomb, along with other children and adults, at a site called Poulnabrone on the west coast of Ireland. “The visible difference of that infant didn’t preclude him being buried in a prestigious setting,” says Trinity College Dublin geneticist Daniel Bradley, who led the new study.

To Lorna Tilley, an Australian archaeologist who specializes in the way past societies cared for people who were sick or disabled, the the fact that the baby was buried in a monumental tomb with other children and adults should come as no surprise. “I’m not sure, unless it was a really dramatic case, it would have been thought of as strange,” she says. “Most babies, in most circumstances, are looked after.”

In fact, the evidence suggests that people in the past devoted significant time and scarce resources to caring for those in need. Scouring the archaeological literature, Tilley and others have turned up evidence that caring for the weak and sick is behavior that goes back as far as Neanderthals. “I take these cases for granted now,” Tilley says. “From the very earliest times, we can see evidence that people who were unable to function were helped, looked after and given what care was available.”

A skeleton found in Vietnam, dubbed Burial 9, was discovered in 2007. A closer look at his bones led to a diagnosis of rare genetic syndrome that often leads to paralysis. “From the bones alone, we can say this person lived with a disease that required help from others to survive,” says archaeologist Lorna Tilley, who helped uncover the 4,000-year-old remains.

Lorna Tilley

In 2007, for example, Tilley was working a site in Vietnam called Man Bac when she helped uncover the twisted, hunched skeleton of a man. Dubbed Burial 9, he was part of a small group of a few dozen Stone Age hunter-gatherers who lived about 4,000 years ago.

A closer look at his bones led to a diagnosis of Klippel-Feil syndrome, a rare, painful genetic disease that results in fused spinal bones and often leads to paralysis. Tilley estimated that his disease became crippling in his teens – and he died from its complications in his mid-20s. “He was at least a partial quadriplegic for the last ten years of his life,” Tilley says.

Tilley, who worked as a nurse and health care policy researcher before becoming an archaeologist, had an idea of what it must have taken to keep Burial 9 alive. Paralyzed from the waist down and with severely limited arm and neck movement, he depended on others to provide food and water, clean him and move him to prevent pressure sores. “From the bones alone, we can say this person lived with a disease that required help from others to survive,” she says.

Archaeologists at work on the site in Vietnam where the skeleton now known as Burial 9 was found.

Lorna Tilley

The glimpse into one man’s struggle in the distant past led her to develop a concept she calls the “bioarchaeology of care.” It’s a way for archaeologists to think about evidence for disease or disability in the past to better understand what kinds of care people needed – and what that says about the society that provided it.

It’s changing the way archaeologists and other scholars think about evidence for rare diseases and disabilities in the past. Rather than presenting unusual diagnoses and examples of rare diseases as curiosities, footnotes or isolated case studies, researchers are increasingly using them to better understand the societies that provided them with care.

The people who took care of Burial 9, for example, scratched out a precarious existence using stone tools to fish and raise pigs in prehistoric Vietnam. Signs of malnutrition in the bones of people buried nearby suggested famine was a constant threat. “In a small society which was very stressed, that means somebody who couldn’t contribute or go out hunting or undertake a lot of tasks was supported, accommodated, and adjusted to,” Tilley says. “That tells us people mattered. They were valued.”

Over the past few years, the approach has been applied to Peruvian mummies, medieval European skeletons and Oetzi, a Stone Age hunter recovered from an icy grave in the Italian Alps. Tilley says there’s ample evidence wounded or disabled Neanderthals were taken care of by members of their social groups, including a Neanderthal man who died more than 45,000 years ago. Known as Shanidar I, the man was missing his lower arm and hand, had a bad limp, and was partially blind and deaf – and lived well into his 40s, undoubtedly with daily help from others.

And in April, researchers in Brazil applied the bioarchaeology of care model to the skeleton of a baby born 6,000 years ago in what is now Brazil. The infant suffered from a severe disease that ravaged its bones. “It’s absolutely obvious this child had something systemically wrong with them,” Tilley says, yet the infant was evidently nurtured for months and buried surrounded by bone collars, bone earrings and dog’s-tooth beads – rich grave goods unlike any others uncovered in burials in the cemetery.

Tilley says the archaeological record – from the Poulnabrone tomb to the jungles of Brazil – shows that global response to the coronavirus crisis is the rule, not an exception, in humanity’s long story. “The most important thing we can learn from the past is the consistency of care,” she says. “The last few months have reinforced that the behavior of care is something that has a continuing timeline from the Neanderthal times right through.”