Patrick Jones with his son, Connor Photo: Patrick Tehan
The minute he heard the front door swing open, 2-year-old Connor Jones would come tearing down the hall to give his daddy leg hugs. “Daddy, Daddy!” he’d cry, wrapping himself around Patrick’s legs. Then one day, he wasn’t there. Patrick found his son in the living room, staring at nothing. At dust specks.
“It was like someone came in in the middle of the night and stole my child,” recalls Patrick, director of systems engineering at Network Appliance in Sunnyvale.
His wife, Nancy, had been preparing herself for a long time before that. She’d minored in linguistics in college, and knew that Connor’s language wasn’t developing as it should. His behavior was odd, too. A pediatrician had commented on it during a routine check-up, when Connor, at 1 1/2, had to be held down “like a wild animal.” He was so sensitive to noise that Nancy had stopped running the dishwasher whenever he was home. But it was a preschool teacher’s observation—that Connor walked over the other children at rest time like they were objects— that really disturbed her.
When she tried to voice her fears, Patrick didn’t want to listen. “I was into major denial,” he acknowledges now. “I thought, ‘Not my son.’” It wasn’t until Connor was expelled from his third preschool—for throwing a heavy bookshelf over in a rage—and withdrew into silence, that Patrick could allow something was wrong.
It turned out that Connor had autism, a neurological disorder whose symptoms include little or no eye contact, lack of responsiveness to speech, repetitive and stereotyped motor movements.
Connor is considered “high-functioning,” but still has problems with acceptance by other children.
Photo: Patrick Tehan
But even when he was finally diagnosed—three years ago, at the age of 3—Nancy and Patrick responded in their own separate ways. Nancy went home, called a friend and cried for hours. Then she pulled herself together and went into study mode. She began reading and analyzing everything she could find, immersing herself in the science of autism.
Unable to find child care for Connor, she dropped out of the Graduate Theological Union in Berkeley. Her real passion now was in finding a treatment—as well as an explanation—for Connor’s condition. She taught herself Web graphics and designed an online autism journal addressed to family, friends, and anyone who happened to find their way to the site, Connor’s Corner (http://www.ccnet.com/~njones/Connor1.html).
She began attending workshops sponsored by Cure Autism Now (CAN), a parents’ foundation based in Los Angeles that funds biomedical research to treat or cure the disease. With her new HTML skills, Nancy became the group’s Webmaster. The site is at http://www.canfoundation.org/.
For Patrick, at first the diagnosis rang like a death sentence. Gradually, however, it began to lose its fearsomeness, until eventually, he says, “As an engineer, I could look at Connor and say ‘This is what’s wrong with you. Now I can try to fix it.’ ”
So beginning in April, he took a six-month, non-paid leave of absence from Network Appliance. He works out of his home in Danville, a sprawling ’50s style ranch house with a wall of French doors that open to a manicured oversize back yard. His plan: to design a state-of-the-art database of information on autism. Working with scientists and doctors acress the country, he and Nancy already have it online at http://www.agre.org/.
This information includes blood samples and extracted DNA, diagnostic interviews, family histories and biomedical materials, all drawn from over 400 “multiplex” families—or families who have two or more children with autism. It is a gold mine of information, collected over the last two years by the CAN-funded Autism Genetic Resource Exchange (AGRE). And by the time Jones’ project is completed, it will be more than three times the size of any autism gene bank in the academic or pharmaceutical world.
But what’s really going to make medical history is what Jones and his cohorts at CAN are doing with this information. They’re putting the raw, unanalyzed data on the Internet, free, at www.agre.org, for any qualified researcher to access and study. They say it is the first truly collaborative gene bank in the world, open to the entire scientific community. After Jones returns to Network Appliance in September, CAN plans to hire someone to replace him in the ongoing work.
“What I’m going to do is give geneticists and scientists around the world the tools to access this information,” says Jones, a youthful 38-year-old who races cars for a hobby. “And the only condition we ask is that people share their analysis once they get it.… We have no interest in making money from this. We just want to find a cure for autism.”
The power of parents
The very word “autism” carries such a sense of dread and terror that well-meaning professionals often desist from making a clear diagnosis, preferring to use the more nebulous catch-all “pervasive developmental disorder.” Dr. Isabelle Rapin, a professor of pediatric neurology at Albert Einstein College of Medicine in New York, says, “autism is … the cancer of the developmental disorders.”
Autism is now so widely referred to as “an epidemic” (see sidebar) that it’s hard to believe it was ever considered a rare disease. First identified in 1943, it was—until as recently as 20 years ago—reported to occur at the rate of four per 10,000. Physicians dismissed it as untreatable, and any academic interested in a tenure-track position did well to steer clear of it. Though the disorder was little understood, it carried a taint of guilt, the legacy of psychiatrist Bruno Bettelheim, who famously blamed the syndrome on “refrigerator mothers.”
“It’s not just Bettelheim,” Nancy says. “He was part of the larger culture, and his theories were accepted and continued. Even today, I see examples of it. In January, my son had a serious regression. He began ‘stimming’—doing his odd, repetitive dancing movements, reciting facts about video game characters over and over, which is his way of calming himself down. And people asked me if anything was happening in our home environment. Then, in March, he made a recovery and began doing wonderfully well, and the same people congratulated me for the fact that he was doing so well. In neither case did I do anything different.”
Today, autism is considered a spectrum of neurological disorders that range from mild to severe symptoms, while sharing one important feature: social impairment. About 70 percent of autistic children are simultaneously diagnosed as mentally retarded. But as Shirley Cohen, author of “Targeting Autism,” points out, “how are we to assess intelligence in children who may have no functional speech or any other organized communicative system, and who rarely look at people or follow verbal directions or imitate movements?”
Four years ago, when Connor Jones’ bewildered parents brought him to a well-respected Bay Area child psychiatrist, the doctor had two recommendations: medication and regular visits to art museums, so the 21/2-year-old could learn to appreciate the finer things in life.
“This is a child who was screaming and banging his head into walls,” Nancy says. “We couldn’t even bring him into a grocery store and this was someone I was going to bring to an art museum?”
Nancy and Patrick ignored the psychiatrist’s advice. Instead, they began an aggressive treatment program of behavior modification, language intervention and special schooling. Connor has come a long way since the time of his diagnosis, when he would signal his request for juice by taking Nancy’s hand—as though it were nothing more than a tool—and placing it on a cup, without ever meeting her eyes or asking for what he wanted.
At 6 years old, Connor talks, reads at a second-grade level, and attends a public school kindergarten with a full-time, district-funded aide. He is considered “high-functioning,” and chances are if you saw him in the playground you’d think he was a normal little boy—unless, perhaps, he was running after a couple of playmates, relentlessly chanting Pokémon facts at them as they tried to play basketball.
“Some of the children—and parents—are turning away from him,” Nancy admits. “It’s very painful to see.… He does have the capability of self-correction, but he has to work so much harder than a normal child at being socially acceptable.”
When she and Patrick joined CAN after Connor’s diagnosis in 1997, they met dozens of couples facing similar challenges. CAN has 26,000 members, including 1,468 in Northern California. It’s one of half a dozen or so parents’ advocacy groups that now exist to fight the disease.
CAN was founded in 1995 by Portia Iversen and Jonathan Shestack, a high-powered Hollywood couple who’ve taken parental commitment to another level. Iversen is a former sitcom writer and set designer (”The Tracey Ullman Show”) who now regularly attends “genetics camp” (a by-invitation-only summer program for Ph.D. geneticists), talks science with the scientists (though she never took a course in science), and reviews grants for the National Institute of Mental Health (as one of several parent advocates around the country). Shestack is a Hollywood producer who has immersed himself in the politics of disease; the premiere of his blockbuster movie, “Air Force One,” raised $250,000 as a CAN benefit.
The organization grew out of their frustration with the slow pace of scientific and medical research on autism after their son, Dov, was diagnosed with the disorder. “As parents, we were being asked to sit back and let scientists do the work,” Iversen explains. “We were told that we shouldn’t worry ourselves about it, just raise money. And then, when we did some research, we found out that autism was less funded than any pediatric disease, at about $5 million a year.”
About three years ago, Shestack and Iversen approached several eminent scientists and asked what they, as parents, could do to make a difference. The answer was unanimous: Build a gene bank drawn from blood samples of at least 100 multiplex families. Extract the DNA, collect biomedical and clinical information, create a database.
“They told us, ‘Look, it’s a needle in a haystack. But with genetics, you’re going to find the needle,’ ” Iversen says. And in fact, studies done in the early 1980s had found that when one identical twin is autistic, chances are 90 percent that the other one is also. This is the highest concordance of any neuropsychiatric disease and suggests a trong genetic connection. Which is good news, because knowing the root of a disease is always the first step along the road to curing it.
Is There an Epidemic
The number of newly diagnosed cases of autism has grown at an astonishing rate over the last few years. In April, an investigation by the Centers for Disease Control and Prevention found autism in 1 out of every 250 children between 3 and 10 years old in Brick Township, N.J. Between 1987 and ’98, the number of autistic children registered at regional centers in California increased by 273 percent—and then again, in 1999, by another 19 percent, according to the Department of Developmental Services. That same year, statistics released by the U.S. Department of Education showed that virtually every state in the country was reporting comparable—if not greater—increases. Michigan schools, for instance, reported a 612 percent increase between 1992 and ’97; Delaware schools a 967 percent increase.
There are approximately 400,000 autistic children in the United States, but the question—another focal point of controversy—is whether the growing numbers reflect an actual epidemic or merely a case of better accounting. Certainly, some of this extraordinary proliferation may be accounted for by changes in the newer editions of the Diagnostic Statistical Manual of Mental Disorders (DSM), the psychiatric bible by which all mental disorders are evaluated. The new provisions, first made in 1987 and then again in 1994, allowed for more inclusive labeling practices. Indeed, the spectrum is now so broad that some specialists suggest the term may eventually come to encompass many different disorders.
Movies like “Rain Man” occasionally awaken public interest in autism. (Autistic savants such as the one played by Dustin Hoffman in the film constitute about 10 percent of the cases of autism.) Yet on the whole it remains an elusive, little understood disease. Until recently it got a bare mention in medical schools and many teaching hospitals.
“Pediatric residents get no education and that’s the problem,” says Bryna Siegel, director of the Pervasive Developmental Disorders Clinic at UC-San Francisco. “If 10 percent of all American children had infections in their blood during the course of their lives, and pediatricians failed to pick it up, they’d think they were doing a pretty poor job. And yet developmental disabilities is something that happens to 1 out of every 10 of their patients, and they’re very poor at picking it up.”
As a result, parents are often forced, by default, to become their own experts. As an example of their frustration level, there are at least three videotapes produced by parents, aimed at teaching doctors how to identify autism.
“One of the benefits—if you want to use that word—of the upsurge is that it’s harder to ignore the increase in the number of these children,” says Bernard Rimland, director of the Autism Research Institute, a nonprofit research group in San Diego. “One of the results is greater awareness. The reason doctors can identify it is because there are more children coming into their practice. Physicians who had never seen an autistic child now have half a dozen in their practice.”
Learning to share
The bad news is that there appears to be no single gene responsible for autism. Years of research have led scientists to conclude that as many as 30 genes are involved—with none playing a major role. Indeed, many parents and a few scientists are turning away from the gene theory to look at environmental triggers, such as a virus, vaccines or pollution. Like most diseases, autism appears to be caused by a combination of genes and the environment.
Actress Rene Russo, second from left, helps raise money for Cure Autism Now (CAN). Here she attends a fundraiser held in March in Hillsborough with, from left, Leslie Wilson, Nanci Fredkin, and CAN founder Portia Iversen.
Photo: Courtesy Cure Autism Now
Though many university labs have amassed their own private gene banks for the study of various diseases, researchers have until recently tended to regard them as exclusive intellectual property. As such, they typically share blood and DNA samples with colleagues at institutions with whom they’ve signed collaborative partnership agreements. This exclusivity is due partly to genuine issues of confidentiality and privacy, partly to the sheer competitive nature of genetics research.
All that is beginning to change. T. Conrad Gilliam, director of the Gene Mapping Unit at Columbia University’s Genome Center, explains why:
“With almost all the successes in genetics—[finding the cause of] Wilson’s disease, Huntington’s disease—it’s been a single gene [responsible for the disease]. Scientists compete for families, and sometimes the scientist who gets the most families has a leg up. As scientists look for harder and harder targets, they realize that going alone is not the best way to go; you’re shooting yourself in the foot.”
In other words, as researchers turn from the relatively easy job of finding single genes to the bigger challenge of finding multiple genes that interact with environmental triggers, they require access to a database of huge numbers of affected families.
“And since it’s so hard to find these families, you can’t afford but to be a little more sharing,” Gilliam explains. “We have to collaborate. It’s the only way it’s going to work.”
The parents of CAN have raised millions of dollars at private fundraising parties. Shestack and Iversen have enlisted Hollywood celebrities, such as actress Rene Russo, to speak out on CAN’s behalf at congressional hearings. The organization has recruited leading researchers: Five members of the National Academy of Science sit on the board of CAN’s gene bank (AGRE). They provide scientific guidance, and review grant requests—without remuneration.
CAN has professionally trained and organized a corps of graduate students to verify each diagnosis of autism made by doctors across the country, and sent a skilled phlebotomist to visit each of the more than 400 households with more than one autistic child, and to draw blood from every family member. It has hired a pediatric neurologist to visit every family and conduct a comprehensive family history. It pays for a private, independent company to conduct the day-to-day administration, immortalize the blood, and codify the data.
“This is totally parent-driven, which is very unusual but totally necessary,” says Dr. Dan Geschwind, director of UCLA’s neurogenetics program and head of the AGRE board. “The scientific community was very opposed to this [parent-driven project] initially, though now many have embraced it. They were worried about the quality of research, which is a good thing to worry about. But the quality is going to be excellent.”
Nancy Jones dropped out of theology school when Connor’s autism was diagnosed.
Photo: Patrick Tehan
It wasn’t only quality that concerned the scientists. The rarefied world of genetic research is as fiercely competitive as that of venture capitalism, the payoff being prizes and fame. As one anonymous scientist has been famously quoted, when it comes to gene research, “There are no silver medals.” Perhaps, too, there was a certain bristling at such chutzpah—that CAN, a group of mere parents, had the audacity to think it could do the science as well as the scientists.
Yet there were serious scientific concerns. One of the major problems in doing any kind of psychiatric genetic research is establishing a baseline diagnostic standard. If different children in different studies are diagnosed according to different criteria, the overall research loses all validity.
“Neuroscientists have worked for decades trying to come up with rigorous, replicable criteria for diagnosing autism,” says Dr. Neil Risch, professor of genetics at Stanford University, which has its own gene bank devoted to autism. “It’s not simple. It requires a great deal of training. There’s not a simple blood test, it’s a subtle discrimination of symptom clusters, and often there’s a degree of uncertainty.
“So when someone says they have 400 multiplex families.… Well, we could have 400 families, too. But after you sift through them, you realize that many of them don’t have autism,” Risch says. “Progress is going to depend on rigorous research, using the best methods available, and not doing something quick and dirty. That is our philosophy.”
Shestack bristles at the suggestion that CAN’s science is anything less than top-notch. “When we started, every single person told us we couldn’t do it, that parents weren’t qualified. People made a cult out of the diagnosis, which is ridiculous. Because we had the person who invented the diagnostic process teach our people [the diagnosticians] how to do it.”
The truth is that parents don’t want to wait. They can’t wait. They don’t have the luxury of time. “I don’t know a lot of autistic adults,” Patrick says, “but I do know people with 12- and 13-year-old kids, and they’re not getting any better.” And when he thinks about how long it took Stanford University to build up its gene bank—10 years to identify the first 90 multiplex families—his hackles go up.
“Stanford taking 10 years to get 90 samples? I don’t get it. And the medical community is OK with that? Well, we don’t have to do it that way. Just line up all the kids and you’ll see why. If NetApp did things like that,” he says, talking about his employer, “they’d be out of business.”
The Joneses help Connor with physical therapy. His sister, Sarah, 8, is at left.
Photo: Patrick Tehan
As it turns out, Network Appliance is the fourth-fastest growing company in the country, according to Fortune magazine—a corporate characteristic that might not adapt well to the traditional pace of academic research. Yet the two realms now seem ready to merge. Last year, Patrick persuaded his company, which manufactures network data storage devices, to donate $500,000 worth of high-end technology to store the enormous amount of data from the AGRE project. One server is at Columbia’s Genome Center; the other is at Accu-Find, an Internet service provider in Pennsylvania where the databases are now stored. The biomedical materials, including the actual blood samples, are being held at Rutgers University.
What Patrick is doing—creating a portal to both the genetic materials and the clinical data associated with them—falls within a new area of technology called bioinformatics, the application of computers to analyzing genetic data. It promises a potential for a wide range of other uses, and that hasn’t escaped the notice of Jones’ supervisors at NetApp.
“What CAN wants to do is use large amounts of data, accessed across large areas by many researchers,” says Mark Santora, vice president of marketing. “Trying to keep different databases in sync across a wide area is an interesting challenge. I wouldn’t say we’re looking for anything proprietary out of this. But a better understanding of how the scientific community can access data across large disparate locations, that’s interesting to us.”
The universities are also taking notice. About 28 geneticists from around the world have already found the Web site (http://www.agre.org/) and begun knocking on CAN’s door.
“This has never been done before,” Patrick says. “That’s what they tell me. I hear this from geneticists, and as a layman and a businessman, I think, ‘Why the hell not?’ ”
Patrick recently returned home from a business trip to find Connor and his sister, Sarah, outside playing. Sarah rushed over and gave her daddy a big kiss, but Connor never even turned around to say hello. Patrick finally walked over and tapped him on the shoulder. “Oh, hello,” Connor said, glancing up. It’s one of those things Patrick tries to get used to, but never does.
Resources on Autism
There is an abundance of organizations that have been established by parents and advocates of autistic children and adults. These are some of the major resources.
Cure Autism Now (CAN)
To request a Family AGRE packet, call (888) AUTISM2 (288-4762) or e-mail FamilyAGRE@aol.com
Autism Society of America
A national organization that provides a variety of types of information and referral services about autism, it has 223 chapters in 48 states.
National Alliance For Autism Research (NAAR)
A national nonprofit organization dedicated to finding the causes, prevention, treatment and cure of autism spectrum disorders. One of its main projects is in the area of brain tissue research, to help understand both normal and abnormal development.
Autism Research Institute
An excellent source of information on alternative treatment methods.
The M.I.N.D (Medical Investigation of Neurodevelopmental Disorders) Institute
University of California-Davis, (888) 883-0961
This interdisciplinary institute conducts research and provides clinical programs on developmental disorders in children and adults, including autism, pervasive developmental disorder, cerebral palsy, and Tourette’s syndrome. It is currently studying the rate of autism in California, as well as possible causes of the disease.
Autism Autoimmunity Project
Lake Hiawatha, N.J., (973) 299-9162
A non-profit organization that is interested in pursuing the role of vaccinations in autism.
Families For Effective Autism Treatment (FEAT)
A parents’ organization that provides support groups and information programs. It offers an excellent daily newsletter (www.feat.org/ FEATNews) on general news of autism, including gene research. Its local chapter, FEAT of the Greater Bay Area, is affiliated with Parents Helping Parents in San Jose (www.php.com/feat.htm)
Families Advocating for Individual Rights (FAIR)
A statewide advocacy organization that represents children with special needs in mediations, due process hearings and IEPs.
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San Jose Mercury News