A Father's Small Hope
Credit: Photograph by Susan Meiselas / Magnum
From the beginning the signs were bad, and they worsened as we went forward. Luke was floppy at birth, with muscles so weak his mouth wouldn't latch to his mother's breast. He was late rolling over, later sitting up, and was so late learning to crawl that we thought he had cerebral palsy. Those first years were a roundelay of doctors, each more stumped than the last. Meanwhile, time passed, and Luke's companions stood up on two legs and left him, running after the other kids in the park. Here was a parent's vision of hell: a child whose nameless condition was so dire that two-year-olds had cast him out.

We swept in quickly and found therapists and teachers, getting him home-based treatments early on. Disabled though he was, I was fixed on raising a son who could delight in his body like other kids. Even before he crawled I put him on the floor, rolling balls to him in our master bedroom. He had a natural arm and loved playing catch, though he lacked the least instinct for cupping his hands and seeing the ball into his grasp. Still, I took heart and laid in equipment: the Little Tikes backboard with the weighted base, a soccer net with a ball he could kick (with help), and a set of those oversize bowling pins that he thought were a scream to knock down.

Approaching his third birthday, he suddenly started walking, and our hopes briefly jumped up with him. Soon he was running, and I took him to the park with our trove of balls to try to engage him with boys his age. It worked for a while; he got a kick out of making other kids chase down his errant throws. But one day a boy plucked the ball from his hands, and Luke howled as though he'd been slugged. It was a tantrum from hell, wild-eyed and gasping, the other parents looking on in horror. In a matter of weeks he lost interest in the park, and jerked away when I drove up to it, screaming his one word: No! The greater loss, though, was his pleasure in playing ball, which was replaced by the VCR. Before long he'd doubled his working vocabulary, grunting "Elmo" (actually, "Uh-mo") until I caved.

That summer there was another significant development: Luke finally had a proper diagnosis. He has, we learned, a syndrome called Fragile X, a single-gene mutation at the base of the X chromosome that wreaks a range of nervous system havoc. That flawed gene, identified in 1991 through an outgrowth of the Human Genome Project, fails to make an important protein that regulates other proteins in the brain. No one knows the exact function it serves, but without it key brain cells develop abnormally and their ability to send their signals is impaired. Physical manifestations are, for the most part, innocuous (long faces, prominent ears, and in males, enlarged testes), and kids so afflicted are usually otherwise healthy and can expect to live to old age. But the effect on developing brains is profound, a cure through gene therapy is decades off, and a promising class of experimental drugs is just now entering human trials. For the estimated 90,000 sufferers in America alone, relief is years away.

In its mildest, which is to say rarest, form, Fragile X causes modest retardation and a host of social dysfunctions: shyness, slurred and/or repetitive speech, and obsessive-compulsive behaviors, to name just some. In the middle range, those symptoms are more pronounced and often appended by neuropsychiatric woes: panic, phobias, sleep disorders, and severe overreactions to bright light and loud noises. And then there are the kids in the bottom bracket whose nervous systems are under sensory assault. Picture having to live in a video arcade with the volume and wattage up full, where everyone around you is racing past, speaking Mandarin at the top of their lungs. Your shirt feels like Brillo, your shoes like cement, and the breeze on your skin like the thwack of a towel that's been left to soak in the fridge.

That, in a nutshell, is my little boy, who, like many of his profoundly affected peers, has autism, epilepsy, and an IQ we can't measure because he can't, or won't, follow instructions. He is months or possibly years from being toilet-trained, eats with his hands, and has no capacity to tie his shoes, though he is Harry Houdini himself at getting out of them.

We have tried (and tried) to ease his symptoms with all the conventional treatments, but have got very little bang for our hard-earned bucks in speech, occupational, and physical therapies. The only thing that's helped, and that just barely, is a mix of powerful drugs: Luvox for mood swings, Abilify for attention-deficit problems, and Trileptal for seizure disorder. Forty years ago most kids like mine were raised in institutions. Luke may still wind up in a residential school, coming home to Elaine or me on weekends. For now, we're doing all we can to fend that off, day by day.