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.
Characterized by a hidden defect in certain cardiac cells, the syndrome had several bizarre variants.
One type results in cardiac arrest when patients hear sudden noises, like ringing from alarm clocks. Another caused a fatal rhythm problem when someone jumps into water. Suspecting that the Iowa victim had had that condition, Ackerman performed the world’s first “genetic autopsy,” using DNA extracted from her heart at autopsy, to show that she had long QT syndrome. He published the results in the New England Journal of Medicine and then determined that the woman’s surviving sister also had the problem, which was treatable.
Thinking he was on to something, Ackerman got dozens of medical examiners in Minnesota to send him blood samples from sudden-death autopsies in young adults and children. He found that one-third had long QT syndrome or similar treatable genetic mutations affecting the heart. Roughly one-fifth of all SIDS cases in particular also showed it.
In another study, 30 percent of victims of unexplained drowning tested positive for similar heart problems. (In Southeast Asia, researchers have found that another genetic cardiac condition, Brugada syndrome, causes many cases of sudden death.) A 2007 editorial in the Journal of the American College of Cardiology commented that genetic autopsy should “become part of the routine post-mortem study” in sudden unexplained deaths — not just to offer closure to families, but to save relatives from the same fate.
Though not directly involved in Josh Thibodeau’s care, I was aware of Ackerman’s research and asked the medical examiner handling his case to save blood for a genetic autopsy after I saw television reports about Josh’s sudden death. Ultimately, Josh’s body was taken to Boston for autopsy, and several tubes of blood were saved. After receiving consent from the Thibodeaus, our medical team helped the family send the tubes for DNA analysis.
A matter of cost
A few weeks passed before the results were faxed to our office. The genetic autopsy showed a mutation causing excessive heart muscle growth and rhythm disturbances — a disorder called hypertrophic cardiomyopathy. Microscopic testing of Josh’s heart confirmed the diagnosis, and, reassuringly, additional genetic testing showed that none of his relatives carried the mutation. (Amazingly, however, testing showed that Josh’s brother Adam has long QT syndrome, which was entirely unrelated to Josh’s problem. Adam is now on a daily medication to prevent sudden death. He still plays competitive soccer.)
Because of the testing, Deb and her husband now know that they and their surviving children are safe. “Genetic autopsies aren’t about the children who have died,” Deb observes. “They’re about those who were left behind.”
Given how helpful such autopsies can be, why aren’t more done? A large reason is the cost.
In Josh’s case, our team found a sympathetic claims reviewer at Blue Cross Blue Shield, who approved a genetic autopsy despite having no obligation to pay. But in most cases, once someone dies, health insurance does not pay for any further diagnostic testing. Labs charge $2,500 to $5,000 for the analysis, which the medical examiner’s office must pay, roughly doubling or tripling the cost of an autopsy. As a result, none do the testing routinely in cases of sudden unexplained death and many never inform people of its availability.
I recently asked Henry Nields, the chief medical examiner for Massachusetts, how many genetic autopsies were performed among the dozens of children with unexplained sudden death in the preceding 12 months. To his knowledge, Josh Thibodeau’s was the only one.
A determined stranger
Lisa Salberg, who runs the nonprofit Hypertrophic Cardiomyopathy Association, regularly scans news wires for stories of sudden unexplained death, and she calls medical examiners out of the blue to suggest genetic autopsies.
In 2009, a 14-year-old named Ian Artola was bare-knuckle sparring with a friend — one bystander called it “a little fight club” — at a New Jersey park when he collapsed and died.
On rare occasions, a blow to the chest from a karate kick or a baseball at precisely the wrong moment can disrupt the heart, causing sudden death. If that’s what killed Ian, his friend would live with lifelong guilt. Hearing the story, Salberg called the county’s medical examiner, and her group offered to fund a genetic autopsy on the teen.
“I know I sound like a stalker,” Salberg tells me. “I’m calling them saying, ‘I know you’ve got this body.’ ” Ian’s family consented to the test, and the results vindicated Salberg’s hunch: The teen had the same problem as Josh Thibodeau. Further testing showed that his sister was fine but that his mother carried the gene. She is now monitored regularly.
No doctor or medical examiner or public health authority saved that mother’s life. Instead, a determined stranger made a phone call. The problem, though, is that someone such as Salberg may not hear about the next case.
Sanghavi is chief of pediatric cardiology at the University of Massachusetts Medical School. He writes widely on medical issues and is the author of “A Map of the Child: A Pediatrician’s Tour of the Body.”