Sick Of Not Knowing

Seth Mnookin tells the harrowing story of a couple whose son was the first person ever to be diagnosed with his severe genetic condition:

When Bertrand was a newborn, Matt joked to friends that he would be so relaxed as a parent that he wouldn’t care which technical field his son chose to pursue for his Ph.D. In May of 2009, the Mights closed Bertrand’s college savings accounts so that they could use the money for medical care. That fall, Bertrand was rushed to the emergency room after suffering a series of life-threatening seizures. When the technicians tried to start an I.V., they found Bertrand’s veins so scarred from months of blood draws that they were unable to insert a needle. Later that evening, when Cristina was alone with Matt, she broke down in tears. “What have we done to our child?” she said. “How many things can we put him through?” As one obscure genetic condition after another was ruled out, the Mights began to wonder whether they would ever learn the cause of their son’s agony. What if Bertrand was suffering from a disorder that was not just extremely rare but entirely unknown to science?

But they weren’t alone:

Thirteen months after Bertrand Might became the first NGLY1 patient in the world, the Mights had helped identify nine more cases. “There were more kids—it wasn’t just our son,” Cristina told me one afternoon in her kitchen. “There are parents like us, who have been lost and confused and jerked around.” Matt nodded. “Even if Bertrand dies, there are kids out there that are just like him,” he said.