When you begin to touch your heart or let your heart be touched, you discover that it’s bottomless.
—PEMA CHODRON
The first clue to the cause of autism is that it’s genetic. (Genes contained in chromosomes in the nuclei of cells provide a blueprint for cell function.) Researchers have shown that autism is genetic by studying twins. They found that when one identical twin had autism spectrum disorder, the risk to the second twin was greater than 90 percent; in contrast, when one fraternal twin had autism, the risk to the second twin was less than 10 percent. Because identical twins share the same genes and fraternal twins don’t, these studies proved that autism was in large part genetic.
When researchers first described the genetic basis of autism, they hoped one gene was responsible. It wasn’t to be. The genetics of autism is far more complex. Edwin Cook, a child psychiatrist and autism researcher at the University of Illinois Medical Center in Chicago, describes autism as “the most heritable of the neurodevelopmental disorders that are complex in origin.” So there was good news and bad news. The good news was that the cause of autism could be found in the genes (meaning researchers could determine the function of these genes); the bad news was that autism was associated with many genes (meaning it wasn’t going to be easy to do this). Later, researchers found that although all autism was genetic, not all autism was inherited. Some parents with no family history of autism had children with the disorder. Apparently, for some children, spontaneous mutations occurred in certain genes. In December 2007, researchers in Canada further confirmed the genetics of autism.
More clues followed. Researchers tried to determine when these particular genes started to malfunction. To do this, they used a clue that many parents had lying around the house: home movies. After looking at movies of children’s first birthday parties, researchers could predict which children would later be diagnosed with autism and which wouldn’t. (This was exactly what Eric Fombonne had done when he examined videotapes of Michelle Cedillo’s first birthday party during the Omnibus Autism Proceeding.) Some children with autism could be detected even earlier. While looking at home movies taken before a child’s first birthday, Canadian researchers found abnormal behaviors in some children as early as six months of age.
Then researchers made an even more surprising discovery: some babies started on the road to autism before they were born. Studies of thalidomide, a sedative that had never been licensed in the United States but had been widely used in Europe and Canada, were particularly interesting. Researchers found that mothers who took thalidomide—known to cause severe birth defects, including shortened arms and legs—delivered babies with an increased risk of autism. These studies showed that factors in the environment (in this case, a drug) were capable of causing autism.
Then researchers found it wasn’t only drugs that could cause autism; viruses could do it too. If mothers were infected with rubella virus (German measles) early in pregnancy, their babies were at higher risk of autism. More than any other clues, thalidomide and rubella showed that environmental factors could influence the development of autism.
These findings led to the next obvious question: if thalidomide and rubella virus could cause autism early in pregnancy, wasn’t it at least plausible that the mercury in thimerosal could do it too? To answer this question, Judith Miles, a developmental specialist working at the Thompson Center for Autism and Neurodevelopmental Disorders at the University of Missouri, studied pregnant women who had received thimerosal in a preparation called RhoGam. RhoGam is given during pregnancy when one particular protein, called the Rh factor, is present on the unborn baby’s red blood cells but not on the mother’s. Miles found that thimerosal given to pregnant women didn’t cause autism in their babies. Miles’s findings were consistent with those on the massive mercury poisonings that had occurred in Minamata Bay and Iraq, where babies were not at greater risk for autism.
Another interesting breakthrough came in March 2007, when the Autism Genome Project, a collection of research groups from more than fifty institutions, unveiled the results of a five-year study. Researchers in the project who were exploring cells of autistic children had found abnormal proteins in the area between nerve cells, called the synapse. Two specific proteins, neurexin and neuroligin, appeared to be involved. One of the lead researchers, Thomas Bourgeron from the Pasteur Institute in Paris, was the first to propose that synapses in the brain were critical to the development of autism. “People in the field are really accepting that this is a pathway which is associated with autism,” said Bourgeron. “When we published the neuroligin [report in 2003], nobody believed it.”
Interactions between one brain cell and another at the synapse didn’t explain everything, however. Autistic children who had a genetic defect only in synaptic proteins were rare, so other genes were clearly involved. In the end, it’s unlikely that even a handful of genes will explain everything. That’s because the symptoms and timing of autism are so varied and diverse. Some children have very mild symptoms, others quite severe. Some children develop symptoms slowly over the first few years of life, others appear to develop normally and then regress. But recognizing the different expressions of autism and the likely variety of genes associated with them is an important and exciting start.
As autism genes have become better defined, people have become more and more excited about the possibility of specific treatments. But excitement should be tempered by experiences with two other genetic disorders: sickle cell disease and cystic fibrosis. Sickle cell disease is caused by a single change on a single gene. No genetic disorder is simpler. That one change results in the production of abnormal hemoglobin, causing red blood cells to collapse. (Hemoglobin is the protein in red blood cells responsible for carrying oxygen to the body.) Although children with sickle cell disease have benefited from the discovery of antibiotics and from advances in blood transfusion, knowing the exact single genetic change that causes the problem hasn’t improved the lives of its sufferers. Similarly, cystic fibrosis, a disease that causes progressive loss of lung function, is caused by a single gene. Unlike sickle cell disease, the cystic fibrosis gene contains hundreds of changes, but it’s still just one gene. And similar to sickle cell disease, the abnormal gene that causes cystic fibrosis makes just one protein. Again, this knowledge hasn’t led to specific treatments for cystic fibrosis. The genetics of sickle cell disease and cystic fibrosis are relatively simple. One abnormal gene makes one abnormal protein that causes disease. For autism, the story is far more complex. It’s not just that there might be hundreds of different changes on one gene; there might be hundreds of different changes on many genes. For these reasons, even after the genetics of autism has been clearly defined, treatments might not be just around the corner.
MANY PARENTS INSTINCTIVELY UNDERSTAND THAT THERE IS NO immediate cure for autism and that vaccines are not the cause. During the vaccine-autism controversy, four parents of autistic children, sickened by the label of “vaccine-damaged,” bravely entered the fray. All have been a wonderful resource for parents trying to understand their children’s disabilities.
Camille Clark, known to thousands of bloggers as Autism Diva, is a remarkable woman. Raised in Davis, California, Clark recognized that, like her daughter, she too was mildly autistic. “I knew I was very different,” she remembered, “and was always looking for clues for why that was. In situations that were overwhelming you could find me in a corner reading a book. I learned to read and write early, and I really liked to read. I remember feeling awkward in talking to people I didn’t know. I still feel this way.”
In the 1970s, Clark moved to Idaho, where she met her future husband. They had two children. “We were two very odd people, coming from families populated by some very odd people,” remembered Clark. “Somehow we produced one very odd child and one normal child.” But the marriage didn’t last, and Clark moved back to Davis to be near her mother.
By 2000, Clark, who was then cleaning houses for a living, started taking courses at a local community college, later graduating from the University of California at Davis with a degree in psychology. At the same time, she was trying to figure out what was happening to her daughter. “I had been searching for several years trying to figure [it] out,” she remembered. “Though the signs of autistic spectrum disorder were there from very early, no one ever said, ‘Your child has poor eye contact and odd, restricted interests. Have you noticed all that flapping? That’s autism.’ Of course, I had noticed all that flapping, but it never occurred to me that it was a symptom of something. Sometime in 2000, I was on the Internet and found a description of hyperlexia, the very early ability to read. I hadn’t heard of it before. The descriptions of hyperlexia frequently referred to Asperger’s Syndrome and autism. Suddenly, I realized that this was a description of me. I found information about Internet groups for adults with Asperger’s, and I joined a couple of them.”
Clark was drawn to parents’ personal stories but appalled by their lack of scientific rigor. “I joined Quackwatch’s health-fraud listserv and started asking experts questions like, ‘What is oxidative stress?’ and ‘Is this right what they are saying about mercury and chelation?’ I found this whole world of science that was in direct opposition to the nonsense going on in the media about a generation of children destroyed by vaccines. I had written a few things about the anti-vaccine autism epidemic hysteria and posted them to the autistic advocacy group and to the health-fraud listserv, when someone on that list suggested that members start blogs. That’s how I was introduced to blogging.”
Clark would soon become the best known, most widely read, and arguably the most irreverent autism blogger. “On the autistic advocacy Internet group we had many discussions about how awful self-proclaimed ‘experts’ and professionals were and how badly they reacted to any kind of criticism or questioning,” recalled Clark. “They had this How-dare-you-question-me! attitude. I thought of them as autism divas. So I created Autism Diva and decided that she’d be just as uppity as they were, and she’d tell them what was what, straight up, and not apologize for doing so. Over time, mostly because of this blog, I made more and more contacts with people who were scientists and skeptics, most of whom were also parents of autistic children or who were autistic themselves. These people taught me more about the details of why the quack therapies couldn’t work the way they were hyped.”
Clark has paid a price for her skepticism. “I have been harassed by phone and by e-mail,” she says. “Among the people who hate me, most of them think that I have been paid to write about autism quackery by ‘Big Pharma’ or some other nefarious entity. But I haven’t made any money from blogging, not a penny. It has cost me a little in cash, but mostly it took a lot of time. The drive behind Autism Diva is partially self-preservation and looking out for my own family. I don’t want people to call my child ‘poisoned’ or an ‘empty shell’; neither do I want to see vaccination rates fall so low that my family or anyone else’s is impacted by outbreaks of vaccine-preventable diseases. I was devastated by the death of Abubaker Tariq Nadama because I had feared that chelation might kill a child.”
Now a laboratory technician for an alternative energy company, Clark hopes someday to work in the field of autism research. Although Clark doesn’t have a cure for autism, she has several suggestions for parents that she hopes will make their lives easier. First, she asks parents to pay attention to the unique skills of their autistic children. “The very wiring of an autistic brain means that the autistic person is likely to have significant abilities,” she says. “Those abilities aren’t always ‘saleable’—such as a talent for mathematics might be—but autistics usually have very keen memories and almost always have a desire to collect facts. Autistic abilities shouldn’t be seen as disabilities or freakish ‘splinter skills’ just because they are less common among non-autistic people.” She also asks parents not to be disheartened by dire predictions from their doctors. “Professionals will be unable to tell you what your autistic child will be able to accomplish in the future,” says Clark. “But the very same thing is true for non-autistic children. No one has a crystal ball. Don’t let that fact make you despair.” And she warns parents to be suspicious of dramatic cures. “All children have sudden developmental leaps and times with less apparent development,” she says. “This bumpy trajectory may be more pronounced in autistic children [and] makes parents targets for quack therapies of all kinds because there will always be someone who can say, ‘Before we put our child on this diet she never made eye contact, but now she does!’” Finally, Camille Clark offers a message of love. “If your child can’t say the words ‘I love you’ now, or even ever, that doesn’t mean your child doesn’t feel love for you,” she says. “A deaf child might never learn to speak the words ‘I love you’ and deaf parents may never hear the sound ‘I love you.’ But deaf parents don’t assume that their children don’t love them. If parents respond with love to their autistic children’s non-standard ways of showing love, then parents and children will feel the bond that they both desire.”
PETER HOTEZ IS THE FATHER OF A SEVERELY AUTISTIC DAUGHTER. He has testified before congressional committees, participated in press conferences with public health officials, and often been quoted in newspaper and magazine articles. More than any other parent, Hotez has spoken out publicly against the notion that vaccines cause autism.
Hotez grew up in Hartford, Connecticut, dreaming of becoming a scientist. “In my early childhood years, believe it or not, I wanted to study tropical diseases,” he recalled. Toward that end, after graduating from Yale University, Hotez entered the Rockefeller Institute in New York City for his doctorate. There, surrounded by Nobel Laureates, he began his lifelong study of hookworms, a common, devastating infection in the developing world. Later Hotez got his medical degree from Cornell University and completed his residency in pediatrics at Massachusetts General Hospital, part of Harvard Medical School. He is now the Walter G. Ross Professor and chairman of Microbiology and Tropical Medicine at George Washington University School of Medicine.
Peter and Ann Hotez have four children. The first two, Matthew and Emy, are students at George Washington; the third, Rachel, is now fifteen years old; the fourth, Daniel, is ten. “We noticed that something was wrong [with Rachel] early on,” recalls Hotez, “but we couldn’t put our finger on it. Ann would say that she wasn’t as ‘huggy’ as the other kids. That she had much more of a shrill cry. And that she was just a really hard baby. We actually started taking her to pediatric neurologists because we felt something was wrong. But there was nothing really objective on her physical exam that they could pinpoint.” Later, at the Yale Child Study Center, doctors diagnosed Rachel’s autism.
Although he was confident Rachel would get the care she needed during the day, Hotez was overwhelmed by his daughter at home. “We wound up sending her to private schools,” said Hotez. “But we’d still have her home in the summer, and we’d still have her outside of school hours. When you add up all the hours she had in school, it was less than 20 percent of the time. And the rest of the time she was at home making life horribly difficult. She would run away to people’s houses. She was very rigid, and she wouldn’t go in the car. So you’d have to stay at home. It got to the point where Ann and I literally did not go out to dinner for a decade. She was always destroying the house, lining things up, putting things in the toilet. [And she had] no sense of self hygiene.” The impact of Rachel’s difficulties wasn’t limited to the demands of her care. “Because of Rachel we had to ignore the needs of the other kids. And it had a lot of financial implications as well, which is that Ann couldn’t go back to work. [My solely] supporting a family was hard. As a result, we accumulated horrific debts that we still carry with us to this day. So we had terrible emotional and financial issues all around this one illness, which is one of the reasons I can understand why parents get so angry. Your first reaction is always that somebody has to be blamed for this.”
Although Hotez was convinced by the studies exonerating vaccines, he was equally convinced by his experiences with his daughter. “We knew very early that there was something wrong,” he said. “So there was never any question that it was a vaccine or something that we did after birth. Having two normal kids before Rachel, and with my being a pediatrician, we had our antennae out for any sort of problems. In Ann’s case, she was always wondering what she could have done during her pregnancy to cause this.”
With increasing anguish, Hotez watched the vaccine-autism controversy unfold. Mostly he was frustrated by the failure of public health officials to stand up for the science that put the vaccine question to rest. “One of the reasons I decided to speak out on this,” said Hotez, “was that I was really appalled at the way that the U.S. Public Health Service has been silent on this issue. I mean, not a word. During all of these Omnibus hearings, did the surgeon general ever speak out on this issue? The CDC is barely vocal on it. They held one press conference that I was part of and then afterwards they didn’t allow us to answer questions from the press. [The National Vaccine Program] Office can’t really speak out on it. The secretary of health and human services says nothing. And people are looking to our public health leaders for some guidance on this. I think [the CDC] is still a respected office despite what some of the autism parent groups say about it. But there are just no public statements, no guidance. When you looked at some of the articles that were coming out in the newspapers, I really found them infuriating: every time they talked about autism, it was always in the context of this vaccine-autism debate, when in fact vaccines have absolutely nothing to do with autism. There is a need for more research into the genetics of autism, and there’s a need for special services, but the whole debate is being skewed, partly because of the silence of our government health officials. I felt the need to speak out because somebody who didn’t have a horse in the race needed to say something.”
Hotez feels the constant focus on vaccines has hurt autistic children. “The hardest part about taking care of an autistic child is that you really are alone,” he said. “There are no services that are out there to help you in the home. And that’s where the kid is 80 percent of the time. To this day, one of the reasons that I believe that we are at least ten years behind in providing the right kind of services for autistic children is because of the distraction that this whole vaccine-autism debate has caused. It’s led to a lack of focus on what’s really needed. I get very angry at a lot of these autism groups, like Safe Minds. It’s so difficult for me not to want to shake them and say ‘Don’t you realize that you’re really doing a disservice to parents, not a service?’ And they’re so self-righteous. They don’t speak for all autistic parents. They’re certainly not speaking for me. Everyone is terrified of these parent groups. One of the advantages of having an autistic kid, one of the few, is that I don’t have to be terrified. I’ve suffered as much as any parent has, and I can just tell it like it is.”
Like Camille Clark, Hotez has paid a price for his outspokenness. “When I became a public spokesperson, it’s been very hurtful to see some of the stuff that’s on the blogs. They’ll say that I’m paid off by industry. Most of the blogs that are about me actually portray me as what I like to call the modern-day equivalent of one of Vladimir Lenin’s useful idiots. That I’m being duped by drug companies.”
KATHLEEN SEIDEL HAS ALMOST SINGLE-HANDEDLY EXPOSED THE unsavory allegiances of those who proffer cures for autism. She’s also been a constant, unshakable thorn in the side of those who have hijacked discussions about the cause of autism.
After her child was diagnosed with Asperger’s Syndrome, Seidel saw the world of autism around her. “I realized that I’d been interacting with [people] on the spectrum, and it didn’t seem so threatening,” she said. “The net is getting broader. People are getting diagnosed who didn’t get diagnosed before. And I realized that there was this disjuncture between the medical prognoses that are offered in the literature that are based on more seriously handicapping conditions and [milder forms] of the spectrum.” In time, Seidel came to appreciate her child not as damaged goods, but as part of a larger, neurologically diverse group. “The [‘damaged-goods’] label is something that physically disabled people have protested,” she said. “Like the Jerry Lewis telethon, patheticizing portrayals of children. I didn’t like these catastrophic descriptions. There is no autism separate from a human being. Choosing to describe a child as soulless—that may be someone’s grief stricken surface misimpression, [but] it was fundamentally offensive to me. There was a point where we realized that our kid is the same person as before the diagnosis.”
In her search for advice and solace on the Internet, Seidel became progressively more angry at those who claimed to speak for her child. “When Generation Rescue did their brave new world start-up in the spring of 2005, I was just appalled by the statements that they were making, the broad generalizations. All autism is caused by mercury poisoning? Excuse me. Did it ever occur to you that someone might object to having their family members labeled as inherently toxic?” So Seidel joined the listserv that had been launched by anti-vaccine activists. “I signed onto the Evidence of Harm mailing list because I wanted to check out the conversations—to see the people who were promoting [David Kirby’s] book and to see what was going on. I was blown away by the hostile judgments towards parents who did not believe in the whole mercury-in-vaccines business. [And] I was blown away by the overwhelming negativity and hostility that was expressed by so many people toward anyone who disagreed with their conclusions about scientific subjects.” Seidel entered the fray by writing an open letter to David Kirby. “That’s when I wrote my ‘Evidence of Venom’ letter,” she recalled. “I thought maybe this guy is just really naïve. Maybe he thinks that he’s fighting the good fight. But does he realize that there are a whole lot of us out there who don’t believe in this whole vaccine thing, for whom it has no relevance in our lives and our experience, who are kind of offended at the willingness of certain people to go out beating this drum saying that all autistics are poisoned? And I was offended by the virulence, the condemnation [by the anti-vaccine camp] of medical professionals.”
At a march on Capitol Hill, July 20, 2005, the notion that children with autism are poisoned is expressed in the sign, “Thimerosal in vaccines, ingredient of mass destruction, 100’s of thousands of brain damaged children” (courtesy of Getty Images).
Seidel, who describes herself as a liberal Democrat, suddenly found herself on the other side of the fence. “I felt a certain sympathy for those people who were being demonized, absolutely demonized, just by their choice to work in a certain area of medicine. You know, how just is this? It’s ironic to me that this whole business with the vaccines and thimerosal and autism has brought me to positions that put me in line with pharmaceutical companies. But I find that I have common ground on some very specific things with people who have radically different political dispositions than I have.”
The more she studied the subject, the more Seidel became certain that vaccines had nothing to do with autism, and she was angry at the doctors and scientists who had convinced parents into thinking they did. “I don’t want to rag on parents,” she said. “Parents are trying to help their kids. And they are trusting people who appeal to them for all sorts of reasons. But, boy, people who exploit families piss me off. When I read about a doctor who suggests to a parent that they take out a second mortgage on their house so that they can buy a home Hyperbaric Oxygen Therapy chamber, I want to cry. People talk about how it’s economically devastating to take care of an autistic child. Well, it’s certainly not helped by doctors who imply that their treatments may be able to reconfigure a child’s brain when they use words like cure and recovery. I think recovery is a really loaded term, and parents have so much hope for their children.”
Because Kathleen Seidel finds that autistic children display a wide range of symptoms, she is reluctant to offer advice; but she does offer a plea for patience. “People often come to doctors and educators expecting that they will have answers for them. But they don’t. Doctors in particular, because they come from a scientific background, are accustomed to uncertainties. Some things we just don’t know. Sometimes the best answer is there is no answer. One of the reasons that Mark Geier’s testimony has been thrown out of court is that he doesn’t acknowledge an alternate possibility, which is that the cause of autism is unknown.”
ROY RICHARD GRINKER GOT HIS DOCTORATE FROM HARVARD University and is now a professor of anthropology and director of the Institute for Ethnographic Research at George Washington University. He’s also the father of an autistic teenage daughter, Isabel. Drawn into his daughter’s world, Grinker recently wrote a book about her and about how autistic children are treated in different cultures. It’s called Unstrange Minds: Remapping the World of Autism. Grinker is struck by how far we’ve come in our perception of autism. His message is one of hope. “Just thirty years ago,” he wrote, “my daughter Isabel might have been labeled mentally retarded, and there would have been little opportunity for her to find her place in the world. Isabel would probably have been placed in a residential institution with a minimal education plan, where the symptoms of her autism would have worsened. A mildly autistic child living at the same time at home would have been teased and bullied mercilessly, would have had little access to special-education services, and would have failed at school and suffered profound emotional distress. Today, my teenage daughter is mainstreamed into a high school classroom.”
Grinker is excited by the explosion in autism research. Recently, he received a grant from the National Alliance for Autism Research to conduct the first-ever epidemiological study of autism in Korea. Like Clark, Seidel, and Hotez, Grinker doesn’t believe vaccines cause autism, but he sees a light at the end of the tunnel: “Federal, state and local agencies in many countries, especially the United States, Canada, and the United Kingdom, have been mobilized to manage the heavy public health burden of autism. Special-education programs are expanding; in the United States, new money is pouring out of the National Institutes of Health into autism research, and donors are contributing millions of dollars to parent advocacy organizations, private schools, and research foundations. Even scientists who never before had an interest in autism are joining an increasingly long parade of autism researchers.” But Grinker worries that the vaccine issue has diverted both research funding and parents’ attention. “In a remote Appalachian mountain community,” he wrote, “I met impoverished parents of autistic children, moms and dads who never went to high school, can barely read or write, and certainly have no Internet access. But they all knew the word thimerosal.”
DESPITE THEIR STRUGGLES, CAMILLE CLARK, PETER HOTEZ, AND Roy Richard Grinker have each found something to hold on to, something good, in their experiences with autistic children. Clark has found joy in looking at life through her daughter’s eyes. “My autistic spectrum child has an unusually beautiful view of the world,” she says, “one that is unsullied by cynicism, uncomplicated by a sense of competition, and unmarred by selfishness. This unusual person is unfailingly kind and never has a desire to meddle in other’s lives. It wouldn’t occur to [her] to lie to get some kind of personal advantage. I am fairly cynical and aware of how duplicitous people can be. [But] my daughter keeps me from becoming entirely bitter about humanity. Besides helping me to see the world differently, my child has helped me to see myself more accurately; having the world continually described to me in rosy terms shows me where my perspective is too bleak and unforgiving.”
Peter Hotez found his daughter’s autism led to a heartening family dynamic. His elder daughter, Emy, “really rallied around Rachel,” said Hotez. “She got interested in special needs children, volunteering at [Rachel’s] school. And [she’s] even thinking of becoming a psychiatrist or a neurologist as a result. So it really had a profound influence on her for the better.”
Roy Richard Grinker found strength in what he learned from his daughter. “Isabel has taught me that the unexpected, even the beautiful, can emerge even from the undesirable, like a lotus growing out of the mud, its beauty and purity unsullied by its origin,” he wrote. “The beauty can be found in a single person, inside of whom there is something—no, not something ‘normal,’ but a brilliant light or an inner truth struggling to blossom. So, when people pity me for my daughter, I don’t understand the sentiment. I work hard for Isabel, but I don’t regret it or feel sorry for myself. At the end of the day when I tuck her in, she’s not a case of autism, or even a child with social deficits and language delays. She’s simply my daughter. My job is to clear the land for whatever growth is to come, even if, sometimes, no one else believes it will happen.”