The excerpt below is from the New Yorker magazine story One of a Kind written by journalist Seth Mnookin and published on July 21, 2014.
One of a Kind
What do you do if your child has a condition that is new to science?
Bertrand had brain damage—or, at least, that was the diagnosis until an MRI revealed that his brain was perfectly normal. After a new round of lab work was done, Bertrand’s doctors concluded that he likely had a rare, inherited movement disorder called ataxia-telangiectasia. A subsequent genetic screen ruled out that diagnosis. When Bertrand was fifteen months old, the Mights were told that urine screening suggested that he suffered from one of a suite of rare, often fatal diseases known as inborn errors of metabolism. During the next three months, additional tests ruled out most of those ailments as well.
Bertrand, who was four at the time, was on the floor in the playroom, around the corner from the kitchen. He had round cheeks and a mop of brown hair. As with many children with genetic disorders, he also had some mild facial abnormalities: his eyelids drooped, and his nose was smaller than is typical, with an indentation on the bridge and slightly upturned nostrils. Two years earlier, the Mights had noticed that Bertrand didn’t produce tears; every time he blinked it was as if sandpaper were scraping against his corneas. To keep the resulting scar tissue from causing permanent blindness, Matt and Cristina put medicated drops and lubricating ointment in Bertrand’s eyes every few hours, which made the skin around his eyes look as if it had been rubbed with Vaseline. Because Bertrand doesn’t reflexively align his head with his body, his face was often pointed away from where he was trying to look, and he ground his teeth with such force that it sounded as though he were chewing on rocks.
On May 3, 2012, nearly two years after the sequencing study began, the Mights met with the Duke team in an examination room of a children’s hospital in Durham. Shashi explained that Bertrand’s condition was probably not caused by a de-novo mutation, as the Mights had thought; rather, Matt and Cristina each had a different NGLY1 mutation, and Bertrand had inherited both.
Last November, the Mights moved to a new home, in Federal Heights, an upscale Salt Lake City neighborhood at the foot of the Wasatch Range. Bertrand was about to turn six, and soon it would be difficult to carry him up and down stairs. The new house had several amenities for a family with a handicapped child, including an entrance at street level, wider hallways, and an elevator.
I visited the Mights three days after they moved. Bertrand seemed different from the way he’d been during my last visit, fourteen months earlier. He had become much more expressive: he furrowed his eyebrows and scrunched his nose and, when he was pleased, grinned broadly and let out what the Mights called a “happy hoot.” He was also much more coördinated, and, with considerable effort, he could roll over and push himself up to a sitting position. To everyone’s surprise, he had even learned to communicate preferences between objects by pointing or leaning toward the one he wanted to play with.
The Mights attribute their son’s improvement to several factors. Because his diagnosis revealed that Bertrand was not suffering from a seizure disorder, he was no longer on a severely restrictive diet or receiving painful, sometimes dangerous treatments such as steroids. Two over-the-counter supplements seemed to be helping, as well. The first was a highly concentrated cocoa extract. “It sounds like a scam, except there’s research showing that cocoa actually improves cells’ energy production,” Matt told me. The second was N-acetylcysteine, or NAC, an amino acid that helps produce a naturally occurring antioxidant. Bertrand hadn’t been admitted to the hospital since he’d had his tonsils removed, nearly a year and a half earlier—a stark contrast to 2010 and 2011, when he’d been rushed to the hospital more than a dozen times.