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Two years later came Jonathan. “He was really colicky, and always seemed to be in some pain that we couldn’t soothe. He would sit in the backyard and pick up rocks and dirt,” she said. She saw the ominous signs: no eye contact, no babbling as a baby. The Eschers took him for an assessment. As soon as the doctor walked into the waiting room, he suspected autism. “Jonny is a brick. Nothing permeates his skull. He was just impervious to what we were trying to teach him. He was an affectionate little boy and remains so today,” Escher said. When Sophie was born seven years after Jonathan, she showed similar signs. She didn’t play or make eye contact. Her diagnosis came soon after. Genetic testing revealed no known abnormalities in either child, and no clinician could think of any reason for two children with such severe disabilities. According to the Centers for Disease Control and Prevention, parents who have a child with autism have only a 2 to 18 percent chance of having a second autistic child. In 2000 and 2002, one in every 150 U.S. children was diagnosed with autism spectrum disorders, which affect the brain’s normal development of social and communication skills. But the rate climbed to one in 88 in 2008, according to the CDC. Many experts believe the rise is due to a combination of a real increase in prevalence plus improved diagnoses. “We don’t know why the numbers are increasing, and we don’t know which portions of the brain are affected when a person has autism,” said neuroscientist David Amaral, research director at the University of California, Davis MIND Institute. “Twenty years ago, the view in the field was that autism was totally a genetic disorder, and if you could figure out which genes were involved, then you would understand the cause of autism. Now we’ve gotten to the point where we’re saying environmental factors have just as much influence as genetics,” he said. With no scientific training, Escher, 47, has educated herself enough to discuss new research with Amaral and other autism experts. She has a law degree from the University of California, Berkeley, and five years’ experience as a clerk in the U.S. District Court in San Jose, Calif. Five years ago, Escher and her husband founded a small family fund that first financed school recreational activities for autistic children, and research into its causes.

To her horror, she learned that researchers had discovered an autism cluster in West Los Angeles, where she grew up. In her search for answers, Escher came across a Tel Aviv University study linking in vitro fertilization with increased risk of autism. “That’s when it hit me that I might have been a fertility kid,” she said. She remembered a scrap of information tucked away. At 13, the cover of Time magazine featured a test tube to illustrate creating a baby with the aid of science. Someone — she thinks it was her dad — said to her, “You were just like that baby. You were a miracle child.” She wasn’t a test tube baby, but she wondered if her mother had taken fertility drugs. Escher called her mother and asked. “They gave me a whole bunch of stuff. I don’t know what it was,” her mother said. At Escher’s request, her mother called her former obstetrician. Four pages of records, stored on microfilm, were sent to Escher. Scrawled over the pages was a list of synthetic hormone drugs that her mother took. Over and over, she saw steroid hormones: Deluteval (a progestin with estradiol) and prednisolone. Escher learned that her mother had gone to a fertility clinic where she was prescribed Pergonal and Clomid to induce ovulation, as well as a continuing regimen of hormones and steroids as a way to prevent miscarriage during the pregnancy.

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Millions and millions of women who are now grandmothers took many medications during their pregnancies in the ’50s and ’60s. Escher wondered: Could the fertility, nausea and miscarriage drugs heavily prescribed in past decades alter the fetus and lead to lasting, transgenerational abnormalities such as autism? So far no one has looked, although one ambitious study is about to be launched in Europe. 5.0 h “Right now, research looks at environment and it looks at genetics. But it doesn’t look at the environmental effects on the germ line. These are critical questions. So far we’re silent on them,” Escher said. Science is very compartmentalized, she said. “We already have all the pieces. We just need to put them in order. But you don’t have one person stringing it all together.” Escher is trying to be the one to do that. One of the first scientists she contacted ...continued on next page

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Inhealth October 2013  
Inhealth October 2013