Colin Murphy was a preschooler when he began exhibiting "Rain Man"-like behavior.
Colin shunned eye contact, engaged in repetitive behavior, avoided social interaction and displayed a savant-like memory.
"He memorized a coffee table-sized book with over 200 names of flowers and trees," said Colleen Murphy, Colin's mom.
"One day I thought Colin was typical," the East Amherst attorney said, "and the next he was autistic."
Autism, first reported in the United States in 1943, is a brain disorder that affects a person's ability to communicate, reason and interact with others.
While it's not a new disorder, autism is drawing increasing attention from the public and the media because of a soaring number of cases. NBC devoted a week's worth of reports to it in February, and it was the cover story in the Feb. 28 issue of Newsweek magazine. A new book, "Evidence of Harm -- Mercury in Vaccines and the Autism Epidemic: A Medical Controversy," by journalist David Kirby, received an extensive review in the April 17 New York Times with the headline "What caused the autism epidemic?"
That's exactly what parents and researchers want to know.
A pilot study Colin participated in as one of 20 Buffalo-area residents, 19 of them children, may help point the way to understanding and treating the complex disease.
The study has also been embraced by some parents and researchers who have long suspected autistic children have a genetic susceptibility to autism, triggered by mercury and other heavy metals.
While not against the use of vaccines, they believe thimerosal, a vaccine preservative that is 49.6 percent mercury, has been the main culprit.
Government studies as late as 2004, however, have rejected that link.
Dr. Jill James, a professor of pediatrics at the University of Arkansas for Medical Sciences, and head of the Arkansas Children's Hospital Research Institute, found the first 10 people in the study had a deficiency of glutathione, the body's major defense against environmental toxins and metals. That's significant because without the antioxidant, toxins and metals can lodge in fatty areas of the body, including the brain.
"I looked at the results from these 10 and I thought, I'm not sure I believe this," recalled James. She got involved with local residents through the help of Laurette Janak, the mother of a child who has Down syndrome with autistic characteristics. "When you do human studies there is generally a lot of variation."
With the assistance of Dr. Paul Cutler of Niagara Falls, another 10 were tested. The results came back the same.
Because glutathione levels are naturally lower in males, James said her study could explain why 70 percent of autistic children are boys. She cautions, however, that it is premature to draw conclusions about a thimerosal-autism link from her research.
"In order to make the link that some are making, it would be much stronger if we knew that this low glutathione was there at the time they got the thimerosal. Then you could say, yes, because of their low glutathione they couldn't handle thimerosal as well," James said.
"As it is, we have no way to know whether this is a cause or a consequence of autism."
James' findings were published in December 2004 in the American Journal of Clinical Nutrition. Kirby, the author, said he believes the study with Buffalo children could become a milestone.
In the 1980s, a study estimated one child in 10,000 in the United States suffered from an autism spectrum disorder.
Today, the Centers for Disease Control and Prevention as well as the American Academy of Pediatrics say it's one in 166.
One in six children is now diagnosed in the United States with an autism-related neurological disorder. California, which is said to keep the best records, showed a 634 percent increase from 1987 to 2002.
Kathy Eiss, president of the Western New York Chapter of the Autism Society of America, has a 31-year-old autistic son who was the adult in the study. She believes thimerosal can trigger autism for some children, and she urges parents to ask to see vaccine package inserts or bottle labels to be sure thimerosal isn't present.
"We're not against vaccinations. What we're saying is to make sure the vaccines that are given do not contain thimerosal," Eiss said.
The thimerosal-autism theory has been dismissed in several government investigations, the latest a large epidemiological study by the Institute of Medicine in May 2004.
"The weight of the evidence to date suggests there is no association between thimerosal-containing vaccines and autism," said Bonnie Hebert, a spokeswoman for the Centers for Disease Control.
Dr. Richard Judelsohn, a pediatrician and medical director of the Erie County Department of Health, said it isn't known why autism rates have risen, but he suspects it's partly attributable to better reporting, and a widening of the definition.
Dr. Stephen Cochi, head of the national immunization program at the Centers for Disease Control, blamed the controversy last year on "junk scientists and charlatans."
The mothers of autistic children who participated in the James study say they have become accustomed to having their concerns belittled by the medical establishment.
"Nobody wants to listen to us. We're labeled a bunch of fruitcakes," said Gloria Tilley, whose 8-year-old twins, Kyle, who has Down Syndrome, and Justin, who has autism, provided findings in another investigation that led James to her study.
Colleen Murphy started the Toxic Kids Study Group several years ago to look into bio-chemistry and medical explanations for their children's autism.
The group came to believe heavy metals, especially mercury, were largely responsible for the dramatic rise in autism in recent years. At the top of their list was thimerosal. The preservative has been used in vaccines to avoid the risk of bacteria since the Eli Lilly Co. developed it in the 1930s.
What caught their attention was the realization that autism's explosion in the 1990s coincided with the doubling of vaccines containing thimerosal being added to the immunization schedule for children. That occurred because multi-dose vaccines containing thimerosal were cheaper to produce and easier to store than single-dose vials.
The result was that children were receiving as many as nine injections with vaccines containing thimerosal -- including Hepatitis B, HIB and DPT -- in their first six months of life, including up to three in a single day.
That totaled as much as 187.5 micrograms of mercury -- far in excess of federal guidelines.
A memo from Merck & Co. obtained earlier this year by the Los Angeles Times revealed senior executives were concerned about high levels of mercury in children's vaccines back in 1991. But it wasn't until eight years later that a federal review found that health authorities had overlooked the rising exposure.
In 1999, the American Academy of Pediatrics and the U.S. Public Health Service recommended thimerosal be removed from vaccines as a precaution, and manufacturers began switching to single-dose containers.
Bobbie Manning of Williamsville believes that recommendation came too late for her autistic son, Michael. An allergist concluded from a toxic screening that Michael excreted a significant amount of mercury that Manning attributes to thimerosal.
"Michael was born in 1995, and that was a bad year," Manning said. "The '90s were bad years to have your children. They were massively exposed to high levels of mercury."
In 2004, the Centers for Disease Control added flu shots to the vaccine schedule for children between 6 and 23 months old and pregnant women. The vaccines were made available in thimerosal-containing multi-dose vaccines as well as single-dose vials, which the CDC declined to object to. Manufacturers also continue shipping vaccines containing thimerosal throughout the developing world.
Banned in some nations
England, which like the United States has seen a skyrocketing rise in autism, banned thimerosal from vaccines last September. So have Canada, Sweden, Norway, France and Russia.
"Wherever we bring our vaccines, you see an epidemic," said Dr. Mark Geier, a Washington-area biochemical geneticist who spoke last fall in Daemen College.
A study by Geier found the risk of autism among children who received mercury-containing vaccines to be almost 27 times higher than those who didn't.
Geier predicts that with the decline of thimerosal in vaccines there will be a sizable drop-off in autism rates. He said preliminary evidence is starting to show this happening.
Substantial progress has been made for Colin Murphy, whose healthy behavior as a preschooler suddenly dissolved into pervasive development disorder, a milder form of autism.
Thanks to supplements, dietary changes and early intervention, 7-year-old Colin now reads on a second-grade level, is talking with full sentences and making eye contact.
"He looks like he's on his way to a great recovery," Murphy said.
Cutler, the Niagara Falls doctor, said the supplements identified in the study that boosted glutathione levels in the children have led to improvements in speech, cognition and socialization in some of the children.
"The results we're seeing for some of the kids is astonishing," Cutler said.
Cutler and James said they are planning on more studies to continue unlocking the mystery of autism.