In a Different Key: The Story of Autism (57 page)

Much earlier, Anthony Edwards had helped in another way—by turning Jon into the political persuader he became. Once, when US Senator Bill Frist was resisting a funding bill Jon wanted passed, Edwards intervened. He invited Frist, who happened to be visiting Los Angeles, to take a backstage tour of the
ER
set. Frist, who was a practicing surgeon before going into politics, was a big fan of the show. When he stepped into the fictional “residents’ lounge,” he found himself transported back to his own early days of training, where the chairs had been the same shabby, slashed specimens the set designers used for the
ER
set. Edwards could see the senator was enjoying himself. Thus warmed up, Frist was introduced to Jon, who was also on set and had brought along Dov. They all posed for pictures, and Jon made his pitch to get Frist to support the bill. Frist went one better than that and joined a group of senators leading the charge for its successful passage.

Such transactions, however, much like the fund-raising, ultimately required that Jon and Portia, and by extension CAN, be taken seriously—an assumption that could not be taken for granted. Indeed, the proposition that autism parents could conjure up a research field out of nothing but their own passion seemed implausible on its face. And the idea that parents would make key decisions about which scientific studies should be paid for with the money available—even if the parents raised it themselves—was easily dismissed as an amateur’s pipe dream. The greatest threat to CAN’s mission, in the beginning, was that it would merely be ignored. Indeed, some of the organization’s early moves almost ensured that result.

Portia had continued putting her energy into mastering the scientific dimension of their operation. In addition to reading and trying to understand the books and papers she was studying, she also took on most of the task of creating CAN’s organizational shape and filling its ranks. Like Eric and Karen London, she started with the idea of building a scientific advisory board, so she turned to people like those she had met in Dallas, scientists who had entranced her with their readiness to break the rules and to take risks on therapies even before the science on them was fully in. CAN’s commitment to alternative therapies endeared them to parents who were frustrated with mainstream practice, though, to some eyes, this also ran the risk of making CAN appear close to the medical fringe.

Early on, Portia and Jon established a clear, nonnegotiable but highly unconventional guideline for any science that CAN would fund: it needed to be approved by nonscientists. At its founding, CAN established a second advisory board that would be made up almost entirely of parents, who would have final say on what research Cure Autism Now funded. This was an attempt to ensure that any research CAN funded had a “direct relevance to autism,” as experienced by people who lived with autism. A study on sleep, for example, might not occur to a young lab researcher who had never spent a night in the home of a child with the condition, but almost any autism parent would be able to point out the close link between autism and sleep disturbances. CAN wanted the science to respond to the direct experiences of families and their insights about autism. It was CAN’s rule that any project bear high odds for
“concrete clinical findings that can make a direct impact on the lives of families.” But this degree of parental control over scientific decision-making—which NAAR did not replicate—was likely to scare off many established scientists.

In 1995, Portia set out on a recruitment tour, traveling to cities all over the United States to make in-person appeals, mostly to younger scientists, not only to persuade them to see that autism was a fascinating and promising window into their specialties—whether it be genetics, molecular biology, neuroscience, or something else—but also to see whether they would be willing to play by CAN’s rules.

Around this time, Portia was introduced to an assistant professor of
neurology at UCLA named Daniel Geschwind. As a courtesy to a fellow faculty member who was raising two autistic children, Geschwind agreed to a half-hour chat in his lab’s conference room. Three and a half hours later, the conversation was still going, and Geschwind was about to make the most momentous decision of his career. As he listened to Portia—this Hollywood art director who had somehow learned to talk the research “talk”—Geschwind felt himself getting pulled along. Portia was offering him a once-in-a-lifetime opportunity—even if it was a gamble—to be an early participant in a new and broad scientific endeavor. By the time they parted that day, Cure Autism Now had acquired a chairman for its scientific advisory board.

It was a turning point for Cure Autism Now. Geschwind was the perfect leader for an organization that hoped to leave behind its own adolescence. While he accepted CAN’s rules about parental influence on funding, he believed that CAN needed to distance itself from the alternative-therapies crowd. Over the course of several months, the
composition of its scientific advisory board underwent a transformation, losing several members whose viewpoints were less orthodox, while taking on scientists whose pedigrees came closer to those of the group that
NAAR had put together, many of whom were still junior enough to take the same gamble Geschwind had.

—

B
ACK EAST, MEANWHILE
, the Londons’ New Jersey living room began to fill with boxes during the week before the October 15 deadline. Scientists from across the country were sending in proposals in response to NAAR’s RFP letters. Each box represented one proposal, duplicated twenty times to be distributed among the members of NAAR’s scientific advisory board.

When October 15 finally arrived, there was a total of twenty-seven boxes stacked up, waiting to be opened. Karen, who was Jewish, woke up finally understanding what a kid might feel like on Christmas morning. She and Eric sat on the living room floor, tore open the boxes, and dove into their contents. They were delighted to see that the proposals they were poring over were as solid as the places they came from were reputable. They heard from researchers at Duke University,
Johns Hopkins University School of Medicine, the Kennedy-Krieger Institute, the University of California at Irvine, and fifteen other leading universities. This was no longer a pipe dream. Every proposal validated the case they had been making for two years—that a parent-run organization could shape and drive serious scientific inquiry into autism. A few weeks later, the scientific advisory board the Londons had created met at a hotel near Harvard to pick the proposals to fund from among the twenty-seven applicants.

By that point, NAAR had raised nearly $850,000, and the goal was to disburse $150,000 in this first round of funding. The board divided it equally among five winners. Their studies ranged from using neuroimaging of the brain to explore the impact of high amounts of white brain matter seen in children with autism, to measuring the brain waves of kids with autism as they tried to speak, to the use of some new molecular detection methods to explore the possible role of a particular virus in provoking autistic behaviors.

All the work produced out of this first round of funding added substantively to the scientific understanding of autism and produced publishable findings. Within a year, two of NAAR’s first grant recipients came to the attention of federal funders, who awarded them a combined $3.6 million to continue the investigations that NAAR’s money had launched. This was the Londons’ ideal scenario coming true. The “seed money” that had spread around to make autism appealing to researchers was catching the eye of other funders, who were also stepping up. It looked like the start of a virtuous cycle.

—

I
N THE LATE
spring of 1996, Jon Shestack had flown east to Washington to start lobbying Capitol Hill for increased spending on biomedical research. He was also headed for the National Institutes of Health, to share with scientists one of CAN’s biggest ideas for “hurrying up the science.” The particulars of the concept were so bold and radical that he had expected some excitement from the roomful of geneticists he was addressing. But as Shestack finished speaking that day, the chilly silence in the room told him otherwise. As the Hollywood autism dad
looked around at the scientists’ faces, he reached for his wallet. It was time, again, to get out the picture of Dov.

Cure Autism Now was ready to start spending money, and genetic research had moved into top place on its list of priorities. Once again, Dan Geschwind was making his influence felt. For months, he had been educating CAN’s founders on both the promise and the challenges of investigating autism’s genetic underpinnings. He told them that autism’s complexity pointed to quite a large number of genes being involved, and an even greater number of combinations of genes. Each of these combinations, interacting with some yet-to-be determined environmental factors, might represent a distinct pathway to having the condition. In other words, there might be many kinds of autism with a wide range of causes. Diving into each pathway by following genetic footprints would be vital to sorting out these complexities and designing interventions.

Geschwind told CAN’s founders that when they started spending money on research, gene research should be a primary target, but he also explained that the answers would not come by studying the DNA of one or two individuals with the condition. The subtle and multifarious differences among people with autism demanded that researchers have access to the DNA of, at a minimum, hundreds of individuals. Moreover, in order to derive the most meaningful genetic information, the DNA of siblings offered the best opportunity for discovery.

But there was one major obstacle: there was not a lab anywhere with that amount of genetic material from autistic siblings in its storage coolers. Because of the time and money it cost to find and analyze the DNA of just one set of donor siblings, most researchers had only a handful of specimens. Moreover, they all jealously guarded what little they had. Science was, after all, competitive. Glory and the ensuing financial reward came from being the “first and only” in making important discoveries. As a result, genetic researchers were loath to share their DNA specimens with one another, even though pooling their resources might lead to more meaningful discoveries faster.

Then Portia came up with a bold idea: CAN would create its own collection of DNA. It would make it big, and it would make it available
to the scientific community at large. CAN would do this by leveraging one of its unique strengths as an organization: its intimate connection to families. In short, Portia wanted to call on CAN’s network of parents to step up and volunteer their children as donors. CAN would do the recruiting, collect and store the DNA, and then make it available to any scientists who were committed to doing research on autism. It would be a massive “freebie” to the genetic labs of the world, because Cure Autism Now would be paying for everything.

As Shestack always told the story afterward, the NIH geneticists were cold to the idea when he first presented it. Perhaps they felt it would be too disruptive to the status quo and that it went against the prevailing ethos of competition among scientists. That may well have been true, but there were also sound scientific reasons for thinking that a parent-run DNA-collection program would be a disaster. Collecting genetic material was not for amateurs, but CAN’s plan called for families to take their kids to a local doctor or clinic to draw blood, stick the sample in a mailer, and send it to CAN, who would then find a way to store it. Moreover, CAN had no reliable way to determine whether these kids actually merited a diagnosis of autism in the first place, nor would they know what specific combinations of autistic traits each child manifested. If it was to be presumed that different genetic patterns led to different “autisms,” then this sort of information was crucial. All in all, the CAN plan was likely to produce scientific garbage.

—

A
ND SO
, CAN adjusted its plan; Jon and Portia went out and hired “magic man” Ed Berry. CAN would now be sending out an expert to get blood drawn the right way: safely, consistently, professionally. They had met Berry when, in their long round of efforts to get Dov’s medical treatments addressed, Dov had needed blood drawn, and the autism grapevine had informed them that Berry was the man to see.

Bringing Berry into CAN was only one of the steps Jon and Portia took, under Geschwind’s guidance, to professionalize their concept. He schooled the couple on the absolute necessity of maximum consistency in the procedures used to get each sample, and in the way autistic traits were documented in each donating individual. He also
explained that researchers would want detailed histories not only of the two or more children in a household with autism, but also of their family members, who shared most of the same DNA. Cure Autism Now’s founders resigned themselves to spending a great deal more money than they initially intended.

They also hired Catherine Lord, PhD, who came with one of autism’s more gold-plated résumés. She had degrees in psychology from UCLA and Harvard, had done her clinical internship with the famous TEACCH program at the University of North Carolina, and was renowned for helping to develop a new tool for identifying autism in children. The Autism Diagnostic Instrument (ADI) was a specialized questionnaire, directed at parents, to tease out recognition of behaviors in a child that were rare but indicative of autism.
The ADI was recognized for its power to yield reliable and consistent results, regardless of the biases of the tester, as long as he or she was well trained in its use. With Cure Autism Now paying the cost, Lord began running workshops to turn a lot of bright, interested students into certified ADI “raters.”

In 1997, just as their counterparts in New Jersey were handing out the first five NAAR grants, Jon and Portia finally launched the full DNA project, under the acronym AGRE—for the Autism Genetic Research Exchange. Scores of families signed up immediately, their imaginations captured by the possibility of cracking autism’s genetic code. Each received a home visit from one of the new ADI raters, who spent hours interviewing the family. The results, along with audio- and videotapes made during the visit, went back to Los Angeles for analysis. Whenever an autism diagnosis was confirmed, Ed Berry showed up, dropping by after a long train ride and drive, to draw blood in his gentle way from the entire family. Next, Berry shipped the physical blood samples, packed against damage, east to the Rutgers University Cell Repository for perpetual preservation. Once there, each sample underwent genomic screening, as well as a process of “immortalization,” in which copies of the blood’s component cells were manufactured and multiplied to create an indefinite supply identical to the originals.