Growing up in the Faroe Islands in the North Atlantic, Edmund Jensen battled an overpowering sense of fatigue. At age 10, he developed seizures in which his limbs would stiffen and his eyes would roll back in his head, but local doctors could never diagnose his condition. In August 2008, Danish doctors identified the genetic defect that prevented his body from maintaining adequate levels of carnitine, which plays a critical role in metabolism. By then, Jensen was 21, had close-cropped brown hair and a silver hoop through his upper ear.
The day before he went to get his first prescription, he died of cardiac arrest. “Again and again, I look at his picture and cannot believe that it is true,” his father, John, wrote afterward.
Jensen’s death was followed by the death of his third cousin Margretha, along with a string of macabre news articles about this undiagnosed genetic condition that had been shattering families in the Faroes for decades. The deaths became a call to action for the country’s Health Ministry, which persuaded some 30,000 citizens — about three-fifths of the total population — to submit blood samples to its new Genetic Biobank. They were all screened for Jensen’s disease, called carnitine transporter deficiency (CTD), improving and potentially saving dozens of lives. The earlier deaths would have a larger impact, though, changing the very face of health care in the Faroes and setting it on a path to become a leader in genomic medicine.