The Boy Who Loved Too Much Read online

  Eli had every symptom on the list.

  Gayle lingered first over the syndrome’s cardiac effects. A heart murmur, she learned, could be a portent of supravalvular aortic stenosis, or SVAS, a dangerous narrowing of the main blood vessel leading away from the heart. SVAS is common in people with Williams, one side effect of a missing elastin gene, which also frequently leads to pulmonary stenosis, obstructing the flow of blood from the heart to the lungs. Because of these conditions, the risk of heart attack and sudden death are much higher among people with Williams, and even infants often undergo surgery to expand their narrow blood vessels.

  Gayle consoled herself with the pediatrician’s assurance that Eli’s heart murmur was mild. He would have heard more than a slight murmur if Eli’s arteries were blocked, wouldn’t he?

  She followed a link to photos documenting the unique facial characteristics of people with Williams syndrome. She hadn’t noticed anything unusual about Eli’s face before. He’s a baby, she thought. He looks like a baby. But all the pictures of kids with Williams looked uncannily like Eli, with upturned noses, protruding ears, pointy chins, thick lips, and wide, gap-toothed smiles. Eli’s teeth have just started coming in, though. Of course he’s gap-toothed. Still, she felt rattled. The pictures of older people with Williams pushed her over the edge. The adorable elfin faces looked uncannily out of place on adults. They don’t look as cute anymore, Gayle mused. Feeling guilty, she instantly tried to unthink the thought.

  She hit the back button, returning to the list of symptoms. She noted the irony that, despite their lack of social anxiety, people with Williams often suffer from severe generalized anxiety and specific phobias. In fact, they are about five times more likely than the general population to be diagnosed with generalized anxiety disorder.

  She began scrolling through the cognitive effects, but her heart snagged on the words “intellectual disability.” The average IQ for someone with Williams is around 55, making most people with the syndrome mildly to moderately intellectually disabled. Eli’s attentiveness to people might not have been the sign of heightened intellect that the state evaluators took it to be. It might have been another symptom of the disorder: the “highly social personality” that is the reason Williams is often called the opposite of autism.

  This tendency, the hallmark of Williams syndrome, is both its silver lining and its most disabling feature. In their unstoppable urge to connect with others, those with the syndrome alienate the people they hope to befriend, and often attract people who are more eager to take advantage of their indiscriminate affection than to reciprocate it.

  Gayle couldn’t stand to read any more. She picked up her desk phone and punched the number for Eli’s pediatrician, which she had memorized. Her breath came fast and ragged. She told the receptionist she needed to speak with Dr. Hanover immediately: it was an emergency. She waited on hold for a minute or two, which felt like an eternity. Then the doctor picked up.

  “Could Eli have Williams syndrome?” she asked. The doctor paused for a moment.

  “I never thought of that,” he said. She heard the clicking of a keyboard over the phone, and wondered if he was looking up the same online medical dictionary she had consulted. “I suppose he could.”

  * * *

  GAYLE HAD TO WAIT SEVERAL weeks for an appointment with the Yale geneticist Jonathan’s mom mentioned: Dr. Barbara Pober. In the meantime she dropped Eli off late at day care every day to avoid running into the pediatrician. It took everything she had to get through ordinary interactions without breaking down; seeing Jonathan’s mom again now would push her over the edge.

  The edge felt dangerously close, all the time. She made it through each day on autopilot; inside, she felt hopeless, desperate, overwhelmed. She balked when Eli’s pediatrician said, about the possibility of Williams syndrome, “You know, kids with disabilities today, it’s not the end of the world.” He tried to explain: the stigma was not what it once was. People with intellectual disabilities weren’t shuffled off to homes and institutions anymore. Parents had access to more resources, better services. Early intervention increased the prospects of independence in adulthood . . . But Gayle had stopped listening. It IS the end of the world, she thought. How can you say it’s not?

  Seeing other children who were the same age as Eli but leaps and bounds ahead of him developmentally, she felt her throat tighten. Looking at their parents, she realized: They have this hope for the future that I don’t have anymore.

  Gayle’s family was supportive, but sometimes being around them only deepened her sense of loss. She grew frustrated when they pretended nothing was wrong. She didn’t know which was worse: the look of pity people sometimes gave her when she told them about the possibility that Eli had Williams syndrome, or when they ignored what she’d said and acted as if it were something he’d grow out of.

  Sometimes they praised Eli for being quieter and less troublesome than other kids. Gayle’s cousin Marcia had a daughter, Kylie, who was the same age as Eli, and she was a restless ball of energy. At one family gathering she kept toddling off and had to be chased down again and again, while Eli never moved from his spot. Someone said to Gayle, “Look at Eli, sitting there all nice. Why can’t Kylie do that?”

  Because he can’t crawl yet, Gayle thought but didn’t say. He’s delayed. You wouldn’t want Kylie to be like him. Why would you say that?

  Her emotions rubbed raw, she grew indignant when the parents of normal kids didn’t appreciate how lucky they were. One day she overheard a coworker talking about his daughter, a straight-A student who had just finished her freshman year of college and gained the freshman fifteen—or maybe more like thirty. The man was telling someone over the phone, “We’re going to take her to the doctor, get her some pills. We can’t have this. You know how I feel about fat people.” Gayle wanted to punch the man. Can’t you just be grateful that she’s brilliant? You want to take her to the doctor because she’s gained weight?

  She was aware that most people didn’t just sit around being grateful their kids didn’t have an intellectual disability. But they should, she thought. They should be thankful every day. She dwelled on this aspect of the disorder more than anything else. Without normal intelligence, Eli wouldn’t be able to achieve all that she had envisioned for his life. She hadn’t exactly expected him to become president or cure cancer, but anything had seemed possible. Part of her hoped he would become a musician, fulfilling a fantasy she and her husband had both entertained.

  Both she and Alan considered themselves edgy, freethinking nonconformists. Their musical interests lay outside the mainstream, somewhere between punk and hard rock, from Alice Cooper to White Zombie, along with the Misfits, the Cramps, and the Ramones. And although they hadn’t gone to as many rock shows since Eli was born, they still aspired to something more than their day jobs as office administrator and machinist, respectively.

  They had high hopes for Eli, too: if he didn’t grow up to be a rock star, then at least he would do something meaningful, something cool. They expected him to stand out somehow. And Williams syndrome—any intellectual disability—stood in the way. Gayle resented the disorder itself, the genetic anomaly that would rob her son of options in life.

  She even felt irritated with Dr. Pober for making her wait so long for an appointment. At first she was told it could take months, since Dr. Pober was away on extended personal leave. Gayle refused to accept the delay. She called the office every day, bullying the doctor’s staff into making an exception. Years later, after she learned that Dr. Pober’s mother had reached the final stage of a terminal illness that spring, and that the doctor had taken time off to be with her, Gayle regretted her pushiness. But at the time, it didn’t occur to her that anyone else’s troubles could be as urgent as her own.

  She counted the days to her appointment, desperate to know for sure. At the same time she dreaded the approaching date: April 10. Until that day, there was still a chance Eli didn’t have Williams, and she could hold o
ut hope for a normal life, for him and for herself. She clung to that hope even as she grieved its loss.

  * * *

  THE APPOINTMENT WAS AT 8 A.M. on a Monday morning. Gayle and Alan arrived early and made their way through the brightly painted, antiseptic-scented corridors of Yale New Haven Children’s Hospital. The juxtaposition of the cheerful and the sterile unnerved Gayle. She tightened her hold on the warm, wriggling bundle in her arms. The tendons in her forearms tensed, locking around Eli like steel cables.

  She had come prepared to fight against a diagnosis, to prove to the geneticist that this was all a misunderstanding. A few weeks earlier she had taken Eli to a lab for the blood test that would tell Dr. Pober conclusively whether he had the disorder. In the meantime, applying a measure of magical thinking to sway the test results, she searched for proof that he didn’t. Now, in her purse, she carried a white envelope stuffed with photos of her father, her uncle, her cousins, herself. Her father had the same wide smile as Eli; she herself had had the same upturned nose as a baby. She planned to show the photos to Dr. Pober to prove that Eli’s appearance was not some genetic fluke. She’d rehearsed the scene over and over in her head: Dr. Pober would look at the photos and realize that it wasn’t Williams after all. Gayle would apologize profusely for wasting her time. Then she’d take her baby home.

  The pediatric hospital room wasn’t much different from an adult hospital room: there was an exam table lined with white paper, a blood pressure cuff hanging on the wall. But the table and the cuff were little. Kid-size. This unnerved Gayle even more. She fixed her eyes on the children’s books on a side table, next to a stuffed Elmo doll, studying the titles in an effort to keep her nerves at bay. Dr. Pober didn’t keep them waiting long. When she appeared, Gayle was struck by how small she was—just a little more than child-size herself. But her manner was solemn.

  Although Gayle didn’t appreciate it at this first appointment, Dr. Pober was the East Coast’s preeminent authority on Williams syndrome. Almost everyone diagnosed with Williams in New England came to see her; she just happened to be a short drive away from Gayle—a stroke of luck for which Gayle would later be grateful. Dr. Pober had specialized in Williams since the 1980s, before the genes involved had been identified, and before it could be diagnosed by a simple blood test: the FISH test, which uses fluorescent dye to light up DNA strands so deletions become visible under a microscope. When she began her career, a Williams diagnosis could be made only by observation, like autism today, based on symptoms and facial features.

  A chance assignment during her pediatrics residency in 1978 had introduced Dr. Pober to the disorder, and she immediately fell in love with the people who had it. She was struck by their warmth and their incredible empathy. They seemed able to read people’s moods, picking up on cues that were invisible to everyone else. One day, when she was seeing patients in the Williams clinic, Dr. Pober was distressed about something she didn’t want to share with her colleagues. She was putting up a brave front, hiding her feelings—or so she thought. A patient walked in, looked at her face, and immediately said, “What’s wrong, Dr. Pober? You look sad.”

  Drawn to Williams despite not being particularly gregarious herself, Dr. Pober cared deeply about her patients. Parents raved about how far out of her way she went to help them, returning calls promptly and dispensing endless wisdom. None of them, however, could recall their first meeting with the geneticist happily: she had made her initial appearance in all of their lives as the bearer of terrible news.

  Dr. Pober introduced herself to Gayle and Alan, her manner neither friendly nor unfriendly, just professional. She studied Eli without lifting him from Gayle’s arms. She took his hand and spread his fingers, examining his nails. She seemed to have a diagnosis in mind already.

  “Yep,” she said, half to herself, running the tip of her finger across his tiny fingernail. “He has these wide nail beds and curved fingernails.”

  Like you can tell from his fingernails, Gayle thought. Dr. Pober made a note. Gayle heard the scratch of pen on paper like nails on a chalkboard, felt it like a knifepoint along her skin.

  Gayle’s pulse raced while Dr. Pober dug through a folder for Eli’s test results. She stood motionless, paralyzed, while the doctor read the results aloud. They confirmed Gayle’s suspicion and her worst fear: Eli was indeed missing the genes implicated in Williams.

  Time froze. Gayle’s heart dropped into her stomach, which in turn seemed to drop to the floor. She was a statue with clenched fists when Dr. Pober left the room to give the family a moment alone to digest the news.

  She stared at Eli. So did Alan. He was a rugged-looking man, with frost-blue eyes and a full beard. Now his eyes glistened and his beard grew damp with tears.

  Gayle did not cry. She was still in battle mode, although she’d never even had the chance to take the photos out of her purse. The fight had been over before she knew it had begun.

  “What does it mean?” Gayle asked when the doctor returned. She had read enough about Williams online to answer her own question, but she wanted to hear it from an expert.

  “Well, everyone’s different.”

  “But what are some of the things it can mean?”

  Dr. Pober listed the most common health effects: SVAS; acid reflux; gastrointestinal problems; high blood calcium levels; low muscle tone; joint stiffness; vision problems, including lazy eye; poor weight gain among children; obesity among adults . . .

  Gayle had trouble focusing. She picked up blips here and there—words and phrases. She shifted back and forth between the real-time words of the geneticist and the script playing in her head, the list of everything she’d read about Williams and tried not to apply to her son. She thought about the lack of social inhibitions, and the endless capacity for affection, that made kids with Williams uniquely vulnerable. She began to consider a life of constant vigilance, above and beyond the constant vigilance that is every parent’s lot.

  She shifted her focus back to the doctor, who was now describing the intellectual abilities of people with Williams. Most had trouble with math, abstract reasoning, and visual-spatial processing, Dr. Pober said. On the other hand, she added encouragingly, people with Williams were known for their remarkable verbal abilities.

  “Most adults are able to read, although there is a broad range of reading skills,” she said. Once again Gayle felt as if her brain had been sucked into a tunnel where words reached it only as faint, incomprehensible echoes. She stared at the geneticist, watching her lips move and registering nothing. When Dr. Pober paused, Gayle collected herself and asked what the future would hold for Eli.

  “Well, he’ll likely have a job,” she heard the doctor say. “Not a job like you or I have. Probably something involving repetitive tasks.”

  Something menial, Gayle translated. She was ready to fight again. The audacity of this woman! How could she take one look at an adorable baby in his fuzzy blue overalls and proclaim him capable only of repetitive tasks when he grew up? Not a job like you or I have. The phrase lodged in Gayle’s brain like shrapnel.

  She was barely paying attention when the doctor said, “He most likely won’t be able to drive a car.” She tuned in again when she heard her say, “Some people have intelligence in the normal range, but most do have a lower IQ than normal.”

  This phrase, too, stuck in her brain: Some people have normal intelligence. When she got home later that day, she called Dr. Pober’s assistant to make sure she’d heard that right.

  “You did say some people have normal intelligence, right?” she asked.

  The assistant qualified the statement: “There are some folks who test normally, but there’s always some deficit: poor coordination or poor visual-spatial skills. Math is almost always a challenge—”

  Gayle cut her off. “But there are SOME with normal intelligence?” She was like a lawyer with a witness: all she wanted to hear was yes or no. Specifically: yes. She wanted to believe that her son would be the one to break the curve.


  Years later she would look back at Dr. Pober’s notes from this appointment and find that they traced the entire arc of Eli’s life.

  The notes read:

  We spent some time discussing both short-term and long-term developmental expectations in an individual with Williams syndrome. Young children master developmental milestones, but at a slightly later than typical age. For instance, the average age of walking is two years. Most individuals with Williams syndrome develop strong language skills, but there typically is some delay in the acquisition of expressive speech. Looking ahead to the school years, most children with Williams syndrome do relatively well in the early elementary school years, often in an integrated preschool classroom and eventually in a regular classroom with extra teacher support. However, some children are in special-education classrooms from the beginning of their school experience. . . . In terms of Williams syndrome adults, most reside with a family member or in a group home for mildly handicapped adults. Most individuals that we follow are employed, though typically in a supervised setting doing a repetitive job.

  Something menial, Gayle would think again. Not a job like you or I have.

  At the hospital, the words were still ricocheting in her brain as she walked back down the cold-cheerful hall, defeated. She and Alan didn’t exchange words. His face was still wet with tears. Hers was blank, shocked. They retrieved Gayle’s car from the valet: a two-door Chevy Cavalier, a relic of the era before Eli. Gayle leaned awkwardly through the passenger side door to strap Eli into his car seat in the back. She stared at him for a moment and thought: Things are going to be different from this moment on. She felt suddenly as if she didn’t even know her son. For fourteen months she’d thought she understood who he was and who he would become. Now he was a stranger.