In tragic instances dating back to at least 2004, otherwise healthy Amish boys and girls have died suddenly while playing, with no clear explanation as to why.

These cases occurred not in one community, but in multiple states including Pennsylvania, Delaware, Kentucky, and Iowa.

Now, this mystery spanning 15+ years has been solved. Research looking at two extended families has unlocked the genetic cause of these deaths.

From the Syracuse Star Tribune:

Research led by Mayo Clinic has solved a 2-decade-old mystery about why so many otherwise healthy children and young people in Amish communities have been dying from sudden unexplained cardiac deaths.

Examining the DNA of four Amish siblings who suffered cardiac deaths while playing or exercising, researchers found they all had a duplication of specific genetic material that put them at risk.

Further research found the same genetic defect in children from other Amish families who suffered unexplained cardiac deaths — and that the defect could be passed down only if both birth parents carried the defect.

Fifteen years ago these deaths were shrouded in mystery. The development of genetic technology has brought us to a point of clarity:

Genetic testing wasn’t sophisticated enough to find the defect after the deaths of the first two adolescents in 2004, and before the more recent deaths of two of their siblings. But the discovery now provides a way to find out if future generations of children are at risk, said Dr. Michael Ackerman of Mayo’s Windland Smith Rice Sudden Death Genomics Laboratory.

Now that this research work has revealed the cause, what can be done? And also importantly, will something be done? (link to the study in the JAMA Cardiology Journal)

How will this knowledge be used?

The research is important because it has revealed a clear “gold standard biomarker” in the words of Ackerman.

In theory, the information that you are a carrier – and your potential partner is as well – could influence your marital decisions.

Amish people could have themselves tested, determine if they are carriers, and avoid pairing off with other carriers.

Image: Cindy Seigle

Could that happen in practice? I don’t know if that approach would be welcomed in many Amish communities. The spirit of “accepting God’s will” remains strong in many places, one reason some Amish avoid SMV triangles and even smoke detectors.

However, that’s not to say no Amish would be open to this. Amish in many places have been willing to participate in genetic research, often motivated by the idea of finding out the causes of unexplained deaths and illnesses experienced in their families.

Yet it’s easy to see how this could generate a stigma in these tight-knit communities. Knowledge of which people and families are carriers could become public and easily spread in these closely-connected settlements.

The idea of what I describe above would be understandably difficult to absorb, even “disruptive” to use a word from the article.

Alternatively, you could wait to be tested until you have formed a bond with a special someone. However, by that point you might already be far down the road emotionally.

A double-positive result would complicate matters, to say the least. Some Amish would no doubt still choose to marry and have children, and leave it in God’s hands.

That said, it should be re-noted that the research covered deaths in just two extended families.

Image: Ed C

It’s possible that these sudden cardiac deaths are limited to members of just these two families, or relatively few beyond them.

In that case, the above question would appear to be simpler, as regards this condition, since it’s already well-known which families have a history of this problem.

But the same idea, and the difficult questions which follow, could still apply for other ailments affecting Amish people which manifest in individuals carrying two copies of an abnormal gene.

Other solutions

Beyond personal genetic knowledge influencing relationship decisions, other possibilities for those facing the cardiac death syndrome include potential medications and treatments. Children who have both copies of the defective gene could have defibrillators implanted.

These are uncomfortable things to think about. But it can be a life-and-death matter in Amish society, where the “founder effect” and marriage customs have led to rare genetic ailments being found in Amish bloodlines – and few other places besides.

Regardless of how this research is applied Ackerman says that the knowledge has at the least brought solace to some families. “We can tell them the root cause … why their children died tragically and suddenly while playing. That is powerful medicine itself.”

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