|Zack and Karen London: Autism is an affliction that affects 400,000 people nationwide, each one unique.|
It was the parking lot that won Zach's heart–the glinting alphabet of cars. He was past his first birthday, not speaking yet, still somewhat unsteady on his toes, but the dark-haired, big-eyed boy still had the power to make his passions known, and his joy, just then, sprang from cars. Not their colors, shapes or personalities, not their relative alignments between the striped dividing lines, but the embossed hieroglyphics of the vehicles' license plates, which Zach would crouch down to trace with the appreciative tip of his index finger. It gave him pleasure. It left his finger blackened with soot. It was, for him, a carnival of delights, while nearby his mother stood and watched, coaxed Zach forward, tried not to add this newest oddity to the sum of other disparate, troubling parts: Zach's habit of assembling complex puzzles upside down. His surprising facility for rapidly reverse-ordering the magnetic letters that clung to the refrigerator door. His ability to swing for hours on end–satisfied, not talking, eerily calm. Zach wasn't like other children his mother had known, but then again, every child is unique. And though typical play and speech did not emanate from Zach, something ineluctable did: a tenderness, a deep-reaching affection from which his mother and father took solace.
Still, Zach's parents, Karen Margulis London, a University of Pennsylvania-trained corporate attorney, and her husband, Eric, a respected psychiatrist, found themselves incapable of keeping their worries at bay. The "A word," they called it, unable even to enunciate autism to one another. A pediatrician urged Karen and Eric to continue observing, and faithfully, horrified, they did. All throughout his second year of life, Zach slipped farther away–tuning in and out, paradoxically, to sounds, entrancing himself with the dance of his fingers, falling in love with TV. Two months shy of his second birthday, just days before Karen gave birth to the Londons' second child, Rachel, the family's worst fears were confirmed by a team of specialists at Children's Hospital: Zach did indeed have autism. The word, like a manacle, tightened its grip and stayed.
A mythology of sorts has grown up around autism, a range of theories, suggestions, false science. Popular culture gives us autism at its extremes. We're introduced to Raymond of Rain Man, who with his superlunary mind could perform seemingly impossible feats of mathematics and recall. We know of the children in made-for-TV movies who can decode the clues of otherwise elusive, perfect crimes or who, on the other end of the spectrum, are consigned to a life of miserable, head-banging moaning. We know the stories Oliver Sacks tells so well, with his artful, compassionate, ultimately honest prose.
But what we don't know yet, not really, is what autism is, where (precisely) it comes from, how to cure it, whether indeed it should be cured. It was Dr. Leo Kanner of Johns Hopkins University who, in the 1940s, first began to systematically separate this particular breed of "disturbance" from other psychoses. Hans Asperger, a Viennese pediatrician working independently at the same time, found himself fascinated as well with this special class of patients and their profoundly original qualities.
Even from its classified start, autism defied easy generalizations and thwarted desires for a magic, curing bullet. Along the way, theories about education and intervention have multiplied, promises about "fixes" have been made and broken, entire advocacy camps have been formed–leaving parents of newly diagnosed children with a swelter of possibilities and half-hopes to slog through. Simply getting to the next day can in itself be an act of heroics.
Today, many physicians talk, if still somewhat inconsistently, about the continuum of autism–about a spectrum of disorders. They speculate about causes–investigating genes, environmental toxins, viruses, even childhood vaccines. They talk about the frustrations implicit in a disorder that is neurologic but must nevertheless be diagnosed by observing a young child's behavior. Estimates vary widely, but most experts believe that autism disorders, three to four times more prevalent in boys than in girls, afflict 400,000 individuals nationwide, occurring in one of nearly every 500 births. This makes autism far more prevalent than, for example, cystic fibrosis or multiple sclerosis. Finally, they refer to the Diagnostic and Statistical Manual, IV, which suggests the following, not necessarily enlightening, criteria for diagnosing autism: severely impaired social interaction, severely impaired communication and imagination, extremely limited interests and activities first observed in infancy or early childhood. If anything is true about the "A word," it is this: Every child diagnosed presents an utterly original matrix of deficits and strengths, demanding a certain artistry on the part of parents and caregivers, a willingness to cast one's whole heart upon the sea of improbable possibilities.
In the end, it doesn't matter what label has been meted out. What matters is that the entire trajectory of a family has been changed irrevocably. What matters is what that family does with the news it has been given, how quickly it can bury its aches and confusion and reach out to help the child. Many parents do indeed rise to extraordinary heights. Some, like the Londons, go further, broadening their quest for healing so as to open more doors of hope for the next generation of children.
Petite and dark-haired, emanating a Wall Streeter's smarts and a poet's passion, Karen London, now 43, was just a galley proof away from publishing a key article concerning new securities regulations when Zach's diagnosis threw her life for a curve. Hollowed out and broken-hearted, she returned to her office and called her boss. Within a half hour, she was gone, leaving her desk, her filing cabinets, the pictures on her office walls untouched. She left corporate life with her briefcase in hand and never once looked back. The briefcase, still full of personal papers, remains locked and dusty to this day.
For the first few years, Karen directed her energies toward her children–finding the best therapists and school for Zach and paying close attention to her newborn daughter. At eight o'clock each day, a bus took Zach to his school, leaving Karen at home to play with Rachel. At three, Zach's bus would bring him back home, Rachel would be placed in the care of a sitter, and Karen and Zach would begin their collaborative work. Visual word recognition: Point to the cup, Karen would say. Point to the apple. Point to the hat. What is it? Hat. What is it? Cup. The therapy reflected a mélange of ideas–strategies culled from the Princeton Child Development Institute, where Zach was attending school, and suggestions put forth by Karen's husband, Eric, then specializing in substance abuse. It was Eric who realized that Zach was capable, at age three, of decoding written words even though he could not speak. It was Eric who suggested, among other things, that the Londons employ sign language to give Zach yet another layer of information.
"We were experimenting," Karen says, her chin resting in the cup of her hands, her voice quiet, her story told with such extraordinary care that when it is played back over the tape recorder later that night, one finds not a single "um," no idle chitchat, no ounce of self-pity or self-aggrandizement. "We were pulling out all of the stops. The most basic accomplishment–producing a two-syllable word, learning how to use a spoon or catch a ball–would fill me with the same conflicted feeling: sadness that we had to so painstakingly teach our child the things that come naturally to others, and relief, the sense of a miracle, that Zach had in fact acquired another skill."
Not until Rachel was a year old, sociable and talking in complete sentences, did Karen let herself believe that her daughter had emerged unscathed. It wasn't until then that this lawyer-abruptly-turned-full-time-mom grew increasingly alert to, and bothered by, the absence of organized autism science. The rules of her entire life had changed, and her intellect–still keen, still hungry–had become engaged with a riddle, a challenge, a problem that had not yet been solved.
Karen's sense that autism was being ignored by the scientific community was reinforced by Eric, whose personal and professional eagerness to immerse himself in the field was disappointed at almost every turn. Major psychiatry meetings, for example, yielded nothing about biomedical research. Real answers to difficult medical questions were hard to come by. And as Eric's own patient population began to include an increasing number of individuals with autism, he grew intensely frustrated by the paucity of pharmaceutical options.
"Resourceful psychiatrists have been borrowing drugs from other disorders for a couple of years now," says Eric, 46. "But they haven't, to date, been given a pharmacological intervention that was designed and developed for those with autism." And since some individuals with autism share many symptoms with persons with learning disabilities, attention deficit disorder, schizophrenia and mental retardation, the emergence of such a new breed of pharmacological therapy could, says Eric, provide a new way of life for literally millions.
But how does one stir the minds, the imaginations, the hearts of those in a position to fund and research such a therapy? Less than half a million individuals in the United States are autistic, and without clearly defined protein "target" molecules around which medicinal chemists might design their research programs, big pharma has stayed notoriously shy of a field of study some describe as the Rosetta stone of human neurobiology. Parents, by and large, have not conceived of a role for themselves on a mountain that industry has deemed too steep to climb.
In November 1993, Arvin Mirow, a childhood friend of Eric's and a geneticist and researcher, made a stop at Karen and Eric's Princeton household. Under his arm he toted three tomes acquired from his most recent neuroscience conference, which he stacked precariously on the kitchen table. Spontaneously, suspiciously, the three longtime friends began to pour through the 14,000 abstracts within those volumes–looking the word "autism" up in the indexes and finding but 11 mentions overall. Dismay and discouragement and more than a modicum of disgust filled the room. "Why isn't anyone researching autism?" Karen remembers asking out loud. And that's when her friend said what Karen calls "his famous words": "Do something about it, if you are so concerned."
Late at night, with the children asleep, Karen began investigating the hows and whats of some of the nation's leading disease-specific nonprofit organizations, stopping frequently to consider the implications for a still-imaginary organization devoted to advancing autism research by providing seed money for pilot studies that researchers could then take to organizations like the National Institutes of Health (NIH). During the day, while her children were at school, she got involved in local autism organizations, getting on the board, going to conferences, quietly asking her own difficult questions. In between, she listened, feeling helpless, to the stories Eric was telling about his growing caseload of autism patients, to the heartache her friends were conveying, to Zach himself as he fought for each and every one of his spare, floating, disoriented words.
Soon enough, Karen and Eric were dining with Dr. Margaret Bauman, a pioneering Harvard researcher, inquiring about whether an organization such as the one the Londons had started to construct in their minds was both necessary and plausible. Still, Karen harbored doubts as to whether she could make that kind of commitment.
The next day, however, Dr. Bauman, at the close of a keynote presentation the Londons were attending, reported to the audience that a young couple was starting a national organization, pointing Eric out to the crowd. Within moments, Eric was surrounded by volunteers, a group of grandmothers from Long Island.
"We had gone," Eric recalls now, a glimmer of bemusement in his tired eyes as he sits at is kitchen table nursing a cold cup of coffee, "well past the point of no return."
In July 1994,the Princeton-based National Alliance for Autism Research was officially incorporated. With Zach in school and Rachel about to enter full-time kindergarten, Karen remade her basement into a provisional office.
With 22 leaders from the nation's top universities and research centers signed on for "a review board without peer," Karen assembled a board of trustees, calling on doctors, journalists, professors and Philadelphia Eagles owner Jeffrey Lurie to assume legal and managerial responsibility for the nonprofit's undertakings. At the same time, an honorary board–including Joe Mantegna, Dan Marino, Wynton Marsalis and Temple Grandin –was called on to lend its energies, talents and resources to a variety of fund-raising events in Hollywood and elsewhere. By and large, those asked to serve know autism well –have seen its impact on their siblings, children or friends.
The quest for healing had hardened into an obsession. Building the caliber of organization that would attract monied donors and talented scientists had become, in so many ways, the heart and whole of the Londons. Their dining room became the office annex. Work got done during the day with the children at school, in the evening with the children in bed, on the weekends when Eric, especially, would travel to conferences, evangelical with his news, his hope, his insistence that his colleagues pay heed to the under-researched matter of autism. The psychiatrist and the lawyer had found their true calling.
In January 1995,NAAR, still operating out of the Karen and Eric's basement, prepared and mailed its first appeal letter. By July 1996, with $150,000 in its pockets and a year of careful planning on its side, NAAR announced the availability of funding for biomedical research in autism and sent its first request for proposals to universities and medical institutions across the United States. Six months later, five researchers were awarded $30,000 each. Biomedical research for autism was finally on the map.
Rebecca Landa, Ph.D., who directs autism research programs at Johns Hopkins University, was one of those who gained financial backing–to pursue the first study of siblings of autistic children. "This is the beginning of my life's work," says Dr. Landa. "If we can find early markers in babies at risk for autism, we can help pediatricians refer children for early intervention, even before the parents raise concerns. We can also better tailor the early intervention to the child's needs, so that we are treating the whole child."
Like Dr. Landa, Duke University's Margaret A. Pericak-Vance, Ph.D., a pioneer in gene-mapping projects for Alzheimer's and multiple sclerosis, has been able, through NAAR research monies, to begin exploring the possibility of a specific genetic susceptibility for autism. She has also been able to fulfill one of NAAR's primary goals, by applying for and receiving millions of dollars of government support for projects begun with NAAR monies.
It is now summer 1998, and Karen London is no longer working out of her home, no longer working alone. Thanks to a $500,000 pledge from a private family foundation, NAAR is currently headquartered in a tiny office in Princeton above a small commercial printer. It boasts three computers, a finicky Xerox machine, a few purplish, shockingly well-drawn cartoons by a 10-year-old boy with autism, piles of research papers that threaten to topple from long–but not long enough–tables. David Maxson, formerly executive vice president of the F
anklin Institute, has joined the team, and the phones ring at a rather steady pace–calls containing updates of new science, excitement over the $240,000 research fellowship grant just received from Bristol-Myers Squibb, questions about an upcoming fund-raiser. There are queries, too, about the autism tissue program, designed to encourage people who have autism or are related to those who do to help further biomedical research by formally indicating their desire to donate their brain tissue to science postmortem. Attentive to every detail, Karen London is also slightly overwhelmed. So much remains to be done.
"We set out to stimulate research in autism, and we've achieved that goal," she says, checking her watch now, aware of the time, pressed to get too many things done before her children's schools let out at three. "We wanted to bring scientists into this field who have never before researched autism, and of the 10 investigators we funded most recently with $60,000 grants, seven are new to this field. We wanted to encourage research of such high quality that the NIH would pick it up on a larger scale, and of the five 1997 NAAR grant winners, two have received million-dollar funding. We wanted to get the pharmaceutical companies on board, and Bristol-Myers SquibbÕs recent pledge is an enormous milestone for us."
Still, says Karen, autism biomedical research remains in the early stages. She'd like to see the identification of the genes implicated in autism, the stimulation of medications oriented toward the symptoms of autism, more research on the mix of extant pharmaceutical therapies and their potential applications for those with autism today.
None of this is pie in the sky. Give the researchers five to 10 years, she says, and they will likely give us some answers. One gets the sense this isn't just big hopes talking, not just a parent prayerful. With her even voice, her extreme intelligence, her command of all things pertinent to what was once the "A word," Karen and her ever-growing cadre of colleagues will take this as far as it can go.
Ten-year-old Zachary London remains entranced, today, by his own long fingers, by the melodies of children's songs, by a little stuffed Pooh bear all dressed for Christmas. His special skill with puzzles has long since passed, and he reads at early first-grade level and converses in occasional, basic, rudimentary sentences devoid of any notion of the abstract. His voice is soft as a puff of dandelions; his eyes slide toward a visitor's, then slide away. His very best friend in the world is his eight-year-old sister, Rachel, who, in addition to being an accomplished student and an emerging violinist, takes care to tuck her big brother in each night, to devise games that he can play with her. Zach is not, as Karen says, a child who is likely to be "cured." But while Zach and Rachel are the Londons's inspiration, NAAR is not ultimately about them.
"A whole generation of parents before us fought to get their children with autism in school, and sometimes their kids ended up being 15 and unable to cash in on the battles their parents won," Karen says, finally allowing the heartbreak of her life's endeavor into her voice, her eyes, suddenly standing, biting her lip, looking for what has not eluded her all morning long: the perfect words. "What Eric and I are doing–with a lot of talented people's help–may not help Zach. But there is a lot of sorrow that goes with having a child who is diagnosed with autism, and Eric and I feel very strongly that if you have the capability to move the agenda forward, even just a little bit, then you have the responsibility. ... I'm building something that I hope will be unnecessary as soon as possible. But realistically, I'm planning for an extended future, for a cause and for a mission I pray others will continue."
For more information, contact the National Alliance for Autism Research at 1-888-777-NAAR.
This article has been reprinted with permission from the September '98 edition of Philadelphia Magazine. Copyright Beth Kephart. Photos by James Wasserman.
Since this article was published in Philadelphia Magazine in 1998, the National Alliance for Autism Research (NAAR) has made significant strides in accelerating the pace of autism research, elevating the caliber of the science and attracting more researchers to the field. To date, NAAR has committed more than $10 million to directly fund 117 autism research projects worldwide – more than any other non-governmental organization in the country.
NAAR-funded projects cover a wide range of research, including genetics, language & communication, epidemiology, immunology, neurosciences, behavior and molecular and cellular biology. In addition to funding pilot studies and mentoring fellowships, NAAR funds larger collaborative research programs that have the potential to yield major advances as well as scientific conferences focusing on autism.
NAAR established the Walk F.A.R. for NAAR walkathon for autism research in 2000, the signature fundraising and autism awareness event of the organization.
In addition, NAAR continues to advocate for increased federal spending on autism research and played a key role establishing and funding the Autism Tissue Program, the first parent-led brain tissue donation program dedicated to autism research.