As he approaches his fifth birthday, Joshua has never said cookie. He used to say mama, daddy, uh-oh, bye-bye and outside until he lost his words about three years ago. He finds ways to get his point across -- presenting pictures, groaning, grunting, smiling shyly, waving hello and goodbye. But words? Not today. "We see great hope, but we don't know if we'll ever have a little boy who says, â€˜I love you, mommy,'" says Joshua's mother, Laura Hewitson of Pine Township.
In February 2002, shortly after Joshua was diagnosed with autism, the family moved from Oregon to Pittsburgh in an effort to get help for him. Both Hewitson and her husband, Dan Hollenbeck, turned their professional lives inside out in response to their son's challenges. Now Hollenbeck is leading the effort to document the surge in autism diagnoses (see "Epidemic Proportions"). Hewitson is a research scientist exploring some of the most controversial theories regarding autism, including an alleged link to a preservative only recently removed from most childhood vaccines.
Hewitson and Hollenbeck are part of a large concentration of autism researchers and advocates in Pittsburgh. Together, they may help answer a question many parents are asking: Why is it that more and more kids can't play, can't converse, can't ask for a cookie?
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This is the point in the story where I'm supposed to tell you what autism is. Would that I could. I've read innumerable articles and several books on the subject. I've interviewed researchers, doctors, parents and autistic kids. I have an autistic son. But the more you learn about autism, the more you realize how little it's understood.
Some autistics don't talk. Some never stop talking. Some crave physical contact. Some can't stand being touched. Some won't sleep with a blanket on, even in the dead of winter. Some won't sleep without a blanket, even in the height of summer. Many are prone to chronic diarrhea; others, constipation (see "Across the Spectrum").
At a conference in Pittsburgh in February, Dr. Jerold Kartzinel of the International Child Development Resource Center in Florida described autism as "the unusual management of incoming stimuli." Catherine Lord, director of the University of Michigan Autism and Communication Disorders Center (and no relation to this reporter), told me the key is "the absence of normal social behaviors." So what's screwy: the input, or the output?
Nancy Minshew could pick out the autistic kids before most people had even heard the word. It was 1984, and she was working in the Western Psychiatric Institute and Clinic's John Merck Program for child development. "When the kids would go past, to go out to play, I could tell which ones were autistic because of the sound of their voice," says Minshew, now research director of the University of Pittsburgh's Center for Excellence in Autism Research, one of 10 such centers nationwide. "They're usually very monotone, very flat. Occasionally you'll get one that's sing-song."
Stick an autistic and a typical person in brain scanners, start asking them questions, and you can see the difference. In June, Minshew and Marcel Just of Carnegie Mellon University's Center for Cognitive Brain Imaging released a study suggesting that in autistics, parts of the brain that normally collaborate on complex tasks don't work together well. Just and Minshew compared the parts of the brain to musicians in a jazz band: The musicians in the autistic brains can play as well or better than normal -- some are veritable virtuosos -- but they can't hear each other well. Therefore, they can't jam.
Why are the internal musicians deaf? Minshew says no one's completely sure. "It is predominantly a genetic disorder, but that doesn't mean you don't have environmental toxins interacting with the genes," she says. Which toxins? "We just haven't a clue. That's what's really scary, is that we haven't a clue, because it's not like anything we've ever seen."
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Hewitson began her search for an answer to autism's puzzle by asking: What's going on inside Joshua?
Joshua is a tough nut to crack. He good-naturedly accepts me into his basement, where most of one wall is a marker board covered with a list of tasks he does daily with a state-paid aide. Then he watches me keenly, out of the corner of his eye, while tossing a toy telephone onto the stairs and watching it bounce down, again and again. There's a plastic oral stimulation toy in his mouth, made for kids who can't stop chewing. If it isn't around, he chews through toys, occasionally including wooden railway pieces.
When I approach, Joshua moves away. When I offer a favorite toy -- a necklace of shiny, pea-sized beads -- he takes it and retreats. The beads, Hollenbeck tells me, are his "ultimate reward," used as a prize when he does well in therapy. For the rest of my two-hour visit, he will not relinquish them, and the sound of beads jingling or sliding across the floor is constant.
Before autism changed everything, Hewitson researched infertility at Oregon Health & Science University, and Hollenbeck was an electrical engineer. Joshua was their first child, so they closely monitored his progress, making sure he rolled over, sat up, crawled and walked within the normal time frames. "He was always slow to develop, but always reached the milestones within the time allotted," Hewitson says.
"At 15 months of age, he started doing very bizarre behaviors," Hewitson says. He would get down on all fours, rock back and forth, and make grunting noises. They asked their pediatrician about Joshua's behavior, and were told it was "normal." When Joshua turned 2, things were worse. His first words had come and gone. The pediatrician told them to come back in six months. Instead, they took Joshua to Oregon Health & Science University, where he was diagnosed with autism.
There's no blood test for autism. Basically, a psychiatrist, psychologist or other behavioral professional talks with the parents, plays with the kid, and after about 90 minutes runs through a set of criteria. Does he or she (four out of five autistics are boys) react when called? Avoid eye contact? Play properly with toys? Engage in repetitive behaviors? Speak strangely, or not at all? Walk on tiptoes? Touch enough of the bases, and the kid is considered autistic.
Joshua underwent a series of tests. The family learned that he had allergies or sensitivities to ingredients found in many foods, including the casein in milk and the gluten in wheat. He had deficiencies in several key vitamins and minerals. He had abnormal levels of mercury and arsenic in his body. His immune system was in shambles.
Hewitson reviewed his medical history. Joshua had never been a very healthy boy. There was a relentless series of ear infections, viruses, colds, flu and diarrhea, running into his second year. Because the family's health plan encouraged doctors to minimize the number of visits, the pediatricians would often see the sick boy, prescribe an antibiotic, and give him three or four of the vaccines normally administered at routine well-baby visits. Even though vaccines and illness both stress the immune system, the pediatricians said it was safe. Hewitson trusted them, and now regrets that. Looking over a pages-long timeline of illnesses, antibiotics and vaccines, she shakes her head. "It's just not safe to do this."
Hewitson isn't saying that the antibiotics or vaccines caused or worsened Joshua's autism; she doesn't know. Other parents, though, make that claim, focusing mainly on a preservative called thimerosal.
Through at least late 2002, many children received vaccines containing thimerosal, a preservative that is about 50 percent mercury. Mercury is spread throughout our environment, thanks to its presence in power-plant emissions, thermometers, barometers, batteries, electrical switches, dental fillings, disinfectants, skin-lightening creams and fungicides. It concentrates in fish. Excessive mercury exposure is known to cause personality changes, tremors, problems with vision and hearing, a lack of muscle coordination, loss of sensation, memory loss and many other problems.
Beginning in 1973, Food and Drug Administration scientists had concerns about thimerosal's safety, but it wasn't until 1999 that the American Academy of Pediatrics and federal regulators announced the phase-out of the preservative from children's vaccines. Even then, they didn't order a recall of thimerosal-containing viruses, so kids continued getting them until at least late 2002, when most of the mercury-laden stockpiles ran out. Flu vaccines still contain thimerosal, as do some antibiotics.
Thousands of parents of autistic children nationwide are pursuing damage claims against vaccine manufacturers in a special U.S. Vaccination Compensation Act court. (My family hasn't filed a claim.) Many cite research including a 2003 paper by researchers at the Florida-based International Child Development Resource Center, suggesting that some autistic kids aren't able to excrete mercury, so the toxic metal gets trapped in their bodies. David Wildman of Evans City is one of the suing parents. He says his son, Nick, went to the pediatrician with an ear infection and got an antibiotic prescription, plus vaccines. When his fever broke a few days later, the toddler started exhibiting autistic behaviors. "He hasn't said a word since then," says Wildman. Nick is now 8 years old. His case was featured on 60 Minutes in 2000.
Vaccine manufacturers tout independent studies showing no meaningful difference in the prevalence of autism in vaccinated versus unvaccinated kids. Parents counter with studies showing the opposite. Each side questions the other's methodology, and accuses the other's researchers of having conflicts of interest.
Expect a fierce fight, since the damages at stake are nearly incalculable. There are now about 177,000 autistics in the U.S., and another is diagnosed every 23 minutes, according to an extrapolation Hollenbeck has created using federal data. He estimates the cost of autism at $5.3 billion a year. And how do you put a dollar value on a child's inability to speak, play games or make friends?
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When Joshua was 2, Hewitson's boss was recruited to the University of Pittsburgh at about the same time the couple began to despair of the level of services for autistic kids in Oregon. They got online, looked up autism and Pittsburgh, and found multiple treatment centers, parents groups and research projects. "Within 24 hours we realized that we needed to move to Pittsburgh to get Joshua services," says Hewitson. They both got jobs at the Pittsburgh Development Center of the Magee Women's Research Institute. Hollenbeck eventually left his job to take care of Joshua and their second son, Sam, and to run an advocacy group, Fighting Autism. Hewitson stayed at Magee, but, she says, "turned my life around completely to make autism research my life."
With that, Hewitson joined an autism research community that is among the nation's best. Nancy Minshew is regarded as among the top dozen autism experts in the country. She's now doing more brain imaging, collecting genetic samples, and studying the eye movements and gestures of autistics. CMU's Just is scanning brains, examining whether there are differences in the brain tissues of autistics that might cause poor connections. Bernie Devlin, an associate professor of psychology and human genetics at the University of Pittsburgh, is crunching the genetic data of 4,000 autistics in a hunt for the missing DNA link. At the Western Psychiatric Institute and Clinic, Martin Lubetsky and Ben Handin are testing the effectiveness of the anti-Alzheimer's drug Aricept for treating autism's symptoms.
Hewitson, meanwhile, is exploring the most controversial autism theories of all. A vocal minority of autism researchers holds that autism is really a breakdown of multiple bodily systems, including the immune and digestive systems, caused by a complex interaction of genetic weaknesses and environmental toxins. One toxin often blamed is mercury.
At Magee, Hewitson is monitoring the mercury levels in pregnant mothers and the cord blood of newborn children. She's hoping to refine recent findings that the mercury mothers ingest from fish and dental fillings concentrates in fetuses. In a project funded by the National Alliance for Autism Research, she's creating genetically modified animals in an effort to pinpoint the genes related to autistic behaviors. She's also testing the effects of ethylmercury -- the kind found in thimerosal -- on primates. What's she hoping for? "Basically, to see whether there's any relationship between the amount of thimerosal that was in vaccines a few years ago and abnormal development."
At Pitt's Center of Excellence in Autism Research, Dr. Minshew views the vaccine theory with skepticism and concern. She points to studies, widely accepted in the American medical community, that discount any role of vaccines in the autism epidemic. An unwarranted backlash against vaccinations, she cautions, could be a medical disaster. "We immunize because many of these [childhood diseases] can kill," Minshew says. If enough people stop vaccinating their kids, she warns, "We're going to start seeing localized epidemics."
Hewitson is also one of the co-investigators in a study led by Michelle Zimmer of Children's Hospital aimed at determining whether diets free of gluten (found in wheat and some other grains) and casein (found in cow's milk) help reduce the symptoms of autism. The gluten-free, casein-free diets tried by many families with autistic kids are based on the theory that many autistics have "leaky guts." The leaks allow huge molecules from gluten and casein to pass into the blood stream. According to the theory, those molecules reach the brain and "act as morphine," says Zimmer. Essentially, the theory's backers say, the kids are stoned on bread and milk. Zimmer has seen parents who swear by the diet, but she can't yet recommend it. "I as a physician have to be cautious," she says. "I need to have scientific evidence that it works." She's also testing the effectiveness of low-sugar diets and essential fatty acids on autistic kids.
Maybe someday researchers like Zimmer, working from the gut, and Minshew, focusing on the brain, will meet in the middle and find some series of gene, protein or enzyme defects, or toxins, that combine to cause the many different symptoms we call autism. For the time being, though, there are deep divisions in the autism research world. The gut people typically don't work with the brain people, and the ones who believe it's mostly genetics don't get along with the ones who blame vaccines, or the environment.
Hewitson is trying to bridge that divide. "I'm looking at it from the genetic and environmental angles, because we need both," she says. "Nearly every researcher now agrees that autism is not straight genetics."
As if to prove the point, her 2-year-old, Sam, wakes up from his nap. He's genetically similar to Joshua, but shows no signs of autism. Sam often tries to play with his big brother, and occasionally they chase each other around, but usually Joshua rejects his advances. "Sam just follows [Joshua] around like a puppy, and he doesn't get the interaction other children would give," says Hewitson. At the moment, Joshua isn't interested in Sam; he's pushing his beads under the bathroom door for the umpteenth time. When I leave, I get a sly smile and a wave goodbye.
A few days later, Hewitson's back in her office, and things are looking up. "Joshua had a great weekend," she says. Motivated by the promise of a bowl of sorbet, he did something he hadn't managed in quite a while. "He started saying mama again."