The Boy in the Moon: A Father's Search for His Disabled Son Read Online Free PDF

had a talent for reassuring mothers, one of the reasons he was considered one of the best pediatricians in the city. He was just turning fifty, trim, well dressed (he insisted on wearing a tie), and he knew how to make easy conversation. Most of the mothers I knew had crushes on him. They tarted themselves up for the trip to his office when their kids needed a booster shot.
    What his patients didn’t know was that their beloved Dr. Saunders had a long-standing interest in rare afflictions and their human consequences. His wife, Lynn, had been a special-education teacher. Pediatrics didn’t pay as well as most other specialties, but it was hopeful medicine: most kids he could fix with swift and certain action. The times when he couldn’t reached a long way into Saunders: he saw something heroic in those children and in their lives. (Shortly before he died of colon cancer in the spring of 2007 at the age of sixty, he inspired the creation of the Norman Saunders Initiative in Complex Care at Toronto’s Hospital for Sick Children.) Privately, Saunders was obsessed with eighteenth-century British naval history and heroes. With the most broken kids, Saunders, too, became a navigator in unknown waters, an explorer.
    But his watchfulness with Walker drove Johanna crazy. She’d arrive home from an appointment and struggle through the door with a baby bag and a stroller and some new device to try to feed the boy, hand him to Olga and say, “I’m so upset with Norm. Normally he knows what he’s doing. But with Walker he just looks at him.”
    What Saunders was doing was trying to figure out whether the just-offness of the boy’s appearance—to say nothing of his limpness and failure to thrive—were signs of a syndrome. And if so, which one? There were thousands of medical syndromes and at least six thousand rare diseases. On its own, blepharophimosis (the extra fraction of space between Walker’s eyes) suggested any number of them: Van den Ende–Gupta syndrome, say, or Ohdo syndrome, or Carnevale syndrome. At the time the Internet was still a new device, into which geneticists poured lists of symptoms daily, which in turn made diagnosing a syndrome both easier and more complicated than it was before. It was like trying to find a particular plant in a vast garden of exotic flowers, each one more bizarre than the next.
    Slowly but steadily, Walker passed sixteen weeks of age. As the first autumn of his life greyed into winter, Saunders began to refine a diagnosis—not yet that something was wrong, but that something wasn’t right. The child was becoming more alert; his eyes, at least, were now tracking objects, even if his head was a bit laggy. He had started smiling. Good signs, the doctor thought.
    But at night at home, Saunders was leafing through medical literature on rare afflictions. He didn’t like what he found: specifically, a research paper with pictures of children who looked almost exactly like Walker Brown. The anomaly was newly described and shockingly rare, a random genetic misfire that produced a wide-ranging group of related symptoms collectively known as cardiofaciocutaneous syndrome. The global effort to sequence the complete human genome was still years in the future; clinical genetics, its predecessor, was still mostly a detective game of observation and hunches. Symptoms overlapped with other syndromes, and misdiagnoses were common. Shprintzen syndrome looked like CFC—Saunders almost fell for that one—but it wasn’t the same: those kids had eyebrows. Noonan syndrome was far more common than CFC, and shared many features, but usually produced much milder developmental delays. Ditto Costello syndrome, with the difference that Costello children had “softer” features (whatever that meant) and were more prone to certain cancers than CFCers. Many geneticists believed CFC and Costello syndromes were only variants of Noonan; others insisted they were separate anomalies. My wife and I kept hoping