Josh’s death plunged the Thibodeaus into what Deb called “a state of nonreality.” It was hard for them to fathom what had happened. Until the sunny July day when he died, Josh had been the picture of health: a goofy, messy kid with a dry sense of humor, a great concern for fairness, a smile that lit up a room. The family’s grief, Deb wrote me, was “almost unimaginable.”
Every year, researchers estimate, several thousand apparently healthy infants and children in the United States die suddenly and unexpectedly. Unlike with deaths in older people, there often is no obvious cause, such as violence or overdose. Sometimes an autopsy detects an unsuspected condition such as brain bleeding, poisoning or infection. But otherwise, the fatality is labeled a case of sudden unexplained death. (In children up to age 1, the term is sudden infant death syndrome, or SIDS.)
It defies obvious solution. Observational studies from the 1980s showed that sudden deaths seemed more common in babies placed on their bellies. A national “back to sleep” campaign begun in 1994 led to an initial decline in infant deaths — perhaps in the fraction of fatalities caused by accidental suffocation — but for more than a decade now rates of unexplained sudden demise in infants and kids haven’t budged. Without a clear diagnosis, families such as the Thibodeaus worry that another relative could drop dead at any minute.
Compounding the problem is that few of the thousands of medical examiners and coroners across the country are accredited, according to Andrew Baker, president of the National Association of Medical Examiners. Some of these examiners — their ranks can include elected officials without formal training — never look at the child’s heart or brain in detail. Some perform X-rays and full toxicology tests in children who die suddenly; others check only for alcohol.
Nationwide, there is no consensus or regulatory guidance on how to do autopsies on kids such as Josh, which makes it difficult for researchers to examine the phenomena of sudden unexplained death. “Our extended families lived in fear,” said Josh’s mother, who has four other children and more than a dozen nieces and nephews.
DNA provides proof
In 1998, Michael Ackerman, a researcher at the Mayo Clinic in Minnesota, heard about a 19-year-old athlete who had died after nearly drowning in only four feet of water while swimming at a fitness club in Iowa. At the time, Ackerman and several colleagues were studying a genetic disease called long QT syndrome.