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More than 100 cases of CFC have been reported since the syndrome was first described publicly in three people in 1979. It was 1986 before it had a name. Some CFC children hit themselves, though most don't. Some can speak and sign. All but a few are anywhere from mildly to severely retarded. Heart defects range from serious to unimportant. Their skin is sensitive to the point of agony. Like many CFC children, Walker can't chew or swallow easily by mouth; his vision and hearing are compromised (he has narrowed optic nerves, one more than the other, and skinny ear canals subject to incessant infection); he's thin and wobbly, "hypotonic" in the medical jargon. Like virtually all CFC children, he has no eyebrows, sparse curly hair, a prominent brow, wide-set eyes, low-set ears and an often charming cocktail-party personality.
At 11, mentally, developmentally I'm terrified to even write these words he's somewhere between one and three years old. Physically, he's better off than many CFC children (he doesn't have seizures that we know of, doesn't have ulcerated intestines); cognitively, less so. He could live to middle age. Would that be good luck, or bad?
Minus a few new genetic details, this is the sum total of what the medical profession knows about CFC. The CFC population isn't large and politically powerful like that of Down syndrome. It isn't a widely studied condition such as autism. Most parents of CFC children know more about it than the doctors do. Raising Walker is like raising a question mark.
What irritated Norman Saunders, Walker's pediatrician, was that the hospital didn't call him when my wife delivered five weeks early. Certainly something seemed off that day. The way the boy slumped in the obstetrician's hand. His yellow skin. The lost look on his face. That strange flock of wild, curly hair, piled in a strip on top of his oblong head. An unexpected pattern.
But he was premature; naturally he was lethargic. (No one spots CFC at this stage.) He refused his mother's breast on alternate feeds and one of his testicles hadn't descended and he could only open one eye. Still, by the time he saw Dr. Saunders for his first checkup two days later, the kid had gained 300 grams.
Yet even on that inaugural visit I know this now from examining Walker's medical records Dr. Saunders began privately to note odd details. The child's palate was unnaturally high. Flaccid muscle tone. Small papebral fissures, or eye openings; lowered, rotated ears; a fold in the skin on his nasal bridge. Hayley had been a star baby. Dr. Saunders wasn't so enthusiastic about her brother.
Two days later, Walker had lost most of the weight he had gained. Johanna was beside herself, deep in a hormonal trance in which her only concern was to get her child to eat.
He didn't seem to be able to suck. He needed an hour to ingest half an ounce of milk. When he did get it down, he threw it up. His body didn't want to survive. "We do want this child to live, don't we?" Dr. Saunders snapped one morning on yet another visit to his office. I decided it was a rhetorical question.
Walker saw the doctor three more times that month. He was puking like a pro; he never slept. His mother was a ghost. Dr. Saunders was now noting anatomical details every visit: oval, spade-like thumbs, mild blepharophimosis (smallish, down-slanted eyes), orbital hypertelorism (they were widespread too). He always used the scientific terms on the boy's private chart it made for more accurate communication with other doctors. They were serious words, embodying the professional hope of exactitude. But Walker Brown was a hard child to be exact about. His testicles, on the other hand, were now palpable, a small victory.
"It's still too early to get worried," Dr. Saunders told Johanna. He had a talent for reassuring worried mothers, one of the reasons he was considered one of the best pediatricians in the city. He was just turning 50, trim, well-dressed (he insisted on wearing a tie), and he knew how to make easy conversation. Most of the mothers I knew had secret crushes on him. They tarted themselves up when their kids needed a booster shot.
What his patients didn't know was that 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 in: Dr. Saunders saw something heroic in those children and in their lives. (Shortly before he died of colon cancer last spring at the age of 60, he inspired the creation of the Norman Saunders Initiative in Complex Care at Toronto's Hospital for Sick Children.)
Heroism was his secret passion he was obsessed with 18th-century British naval history. With the broken kids, Dr. Saunders, too, became a navigator in unknown waters, an explorer and a watcher.
His watchfulness 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 deVera, our nanny, and say, "I'm so upset with Norm. Normally he knows what he's doing. But with Walker he just looks at him."
What Dr. 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.
But which one? There were thousands of medical syndromes and at least 6,000 rare diseases. On its own, the extra fraction of space between Walker's eyes suggested any number of them. 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, as the fall greyed into winter, Dr. 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, he began leafing through textbooks on rare syndromes. 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 new and shockingly rare, a random genetic misfire variously called Shprintzen syndrome, velo-cardio-facial syndrome, and cardio-facio-cutaneous syndrome.
This was in the fall of 1996. Walker had all the signs. The potential consequences were more sobering: learning difficulties, hearing loss, intellectual impairment, language impairment. "Socialization skills may surpass intellectual skills," one researcher noted, rather gracefully. Ten per cent developed psychiatric disorders in the teen years.
That November, Dr. Saunders referred Walker's case to the genetics department at the Hospital for Sick Children. At home, what had begun as a normal concern for a preemie baby had mutated into a 24-hour state of turgid alarm. There was something wrong with our boy.
In February, geneticist Ron Davidson confirmed Dr. Saunders's inkling: Walker had cardio-facio-cutaneous syndrome. He was eight months old. That would qualify as an early CFC diagnosis even today.
"Now that we know what's wrong, we'll know what to put right," my wife said, touchingly. She believed in medicine.
Dr. Davidson was even upbeat. "His developmental milestones are being achieved at a rate that was well within the normal range," he wrote in a confirming letter after meeting Walker. (There were always confirming letters.) True, "the feature of the CFC syndrome that raises most concern is the chance of learning problems," but even here there was a light at the end of the tunnel. "As the number of cases reported has increased, several affected individuals have been reported as having completely normal learning histories and normal intelligence."
The syndrome was not hereditary: The chances of having a second CFC child were microscopic, although Walker had a 50-50 chance of having a CFCer of his own. "However, by then we will know a great deal more about the condition and the mutation that causes it, and there will undoubtedly be a variety of options available to him and his wife." Walker's wife! I have to say I never believed it.
Part 1 continued on Chapter 3…