By Shankar Vedantam
Washington Post Staff Writer
Tuesday, July 1, 2008
In Bethesda, a 15-year-old girl talks to her television set. Often, she seems more connected to the tube's ghostly embrace than to her own father, mother, brothers and sister. She flushes household items down the toilet. She has no friends outside her family. Rachel does not understand why other people might not want to talk about her beloved Japanese animation shows. She gets angry when anyone shows a lack of interest in the things that interest her.
Rachel has autism, and there are tens of thousands of children like her. Having a child like Rachel -- especially at a time of widespread fears that something in children's vaccines is responsible for surging rates of diagnosis in the United States -- is debilitating, dispiriting, demoralizing.
Many families are worried by allegations that the medical establishment is covering up the risks of childhood shots, possibly because doctors have financial conflicts of interests with vaccine manufacturers or because health officials are worried about the consequences of lowered vaccination rates.
"It is an ever- increasing snowball of horror -- one disappointment after another," Rachel's father, Peter Hotez, says about the challenge of dealing with an autistic child. "You recognize the gravity now as she has become a difficult and impossible teenager."
Hotez's feelings as a parent of an autistic child might seem unremarkable, except that he also happens to be one of the country's more prominent vaccine researchers.
He is president of the Sabin Vaccine Institute, the chair of George Washington University's department of microbiology, immunology and tropical medicine, and a consultant to the Gates Foundation, which is helping to develop vaccines to fight neglected diseases.
The notion that a vaccine expert would deliberately cover up the cause of a growing public health problem cuts Peter Hotez to the quick. That narrative suggests that someone like him -- with firsthand knowledge of the devastation autism can cause a family -- would stand by idly as medical science knowingly allowed thousands of Rachels to be put through the suffering that she and her family have endured.
Rachel Hotez is the third child of Peter and Ann Hotez. Very early, the family guessed something was wrong. Ann thought Rachel was not as hungry as other babies. Her cry sounded different. Peter, who is also a pediatrician, instinctively felt something was amiss with his younger daughter. The family took her to see a pediatric neurologist, who said there were no objective signs of a problem.
Like many parents dissatisfied with early assessments, Peter and Ann Hotez worried that the doctor was not willing to acknowledge the possibility of autism because of the stigma attached to such a diagnosis.
It was also true that science does not have an objective way to pinpoint autism in young children. There is no laboratory test for the disorder and, although it clearly has a strong genetic component (having one child with autism confers a 90 percent risk of being autistic on an identical twin), diagnosis involves a subjective evaluation of a constellation of symptoms that do not always stand out until children are older. There is also a great deal of variation among autistic children. The broad signs of the disorder are a lack of social connectedness, communication problems and repetitive, obsessive behaviors, but those umbrellas encompass a wide range of problems. Rachel, for example, is much more verbal than other autistic children but is severely impaired in other domains.
"It is not one disorder; it is at least several, and there are probably hundreds," acknowledged Andrew Gerber, a Columbia University autism expert. "There are autisms-- there is an autism spectrum disorder."
Rachel's family took her to see one of the country's top autism experts when she was 2 1/2 . She received her first diagnosis: "pervasive developmental disorder not otherwise specified," a catchall term. The family felt adrift. Rachel was placing an extraordinary strain on everyone. There were financial worries.
"Rachel was more work than all the other kids combined," Peter Hotez said. The illness brought most normal family activity to a halt. "We didn't go out to dinner for a decade."
As Rachel missed developmental milestone after developmental milestone, Ann Hotez did what tens of thousands of other mothers would do in her situation: She blamed herself. She started wondering whether she had done something during her pregnancy with Rachel: Was it the tuna fish she had eaten?
The link between tuna and autism, moreover, was part of a larger controversy. Many people were worried about tuna because of fears that mercury in fish might cause autism. There was another large source of fear regarding mercury: Many children's vaccines contained a preservative called thimerosal, a mercury derivative.
Ann told her husband what she was reading about the controversy. Many advocates believed that increased numbers of vaccinations in early childhood were linked to the rapidly growing number of autism cases in the United States. Some advocates believed the problem was in the vaccines themselves, while others thought the problem was in the thimerosal and cited evidence that showed mercury was highly neurotoxic.
Peter Hotez responded to his wife's fears in the only way he knew how. He consulted studies, research, data. He told her about Minamata disease in Japan, where kids had been exposed to high levels of mercury. There is strong evidence that mercury exposure in the womb can cause limb deformities and gait abnormalities. In older children, it can cause brain abnormalities. To a layperson, that might all sound like a clear-cut connection with autism, but to Peter Hotez, the difference between autism and an abnormality caused by a toxin such as mercury was like the difference between a computer virus that shuts down all telecommunications in a city and a hurricane. A city deprived of its telecommunications can be just as paralyzed as a city that has suffered a natural disaster, but the two kinds of destruction leave different trails.
"This is not something that can be caused by a toxin after birth. This is a deeply patterned mis-wiring in the brain, and this is not how a toxin works," Peter Hotez told his wife. "It can only be a genetic condition that affects the whole neurobiology of development."
Ann pointed out that this was not what she was reading on the Internet. "She said, 'Why does no one say that?' and I said, 'I don't know why they don't say that,' " Peter Hotez recalled. "As a society, we are quick to want to point fingers and find blame."
As the controversy raged and some families stopped vaccinating children, federal authorities saw that thimerosal was removed from all routinely given childhood vaccines by about 2002 as a safety precaution. Health officials were under intense pressure from politicians, who were under intense pressure from constituents. Whom did leaders and doctors care about, angry families demanded: disabled children or the medical establishment? Lawsuits piled up, making their way to a vaccine court in Washington that is currently hearing cases exploring the theories.
The government recently conceded the case involving Hannah Poling of Athens, Ga. Shortly after receiving a battery of vaccinations, Poling's parents said, she went from being an alert toddler to a child with symptoms that began to look increasingly like autism. Poling, now 9 years old, is said to have had an underlying mitochondrial disorder, which can increase the dangers posed by various common childhood infections. Contrary to some people's concerns that children with mitochondrial disorders should not receive vaccinations, many doctors say it is especially important that such children be vaccinated to head off infections, which have the potential to trigger serious mental and physical damage. (At press time, national experts were convening a meeting in Indianapolis to examine links between autism, mitochondrial disorders and vaccinations.)
Federal officials and the scientific establishment have steadily maintained that the decision to concede the Poling case does not in any way suggest that vaccines cause autism. They insist that no scientific evidence exists to prove such a link.
"While we recognize and have recognized mitochondrial disorders are associated with . . . autism-like syndrome, there is nothing about this situation that should be generalized to the risks of vaccines for normal children," said Julie Gerberding, director of the Centers for Disease Control and Prevention. "Our message to parents is, immunizations are lifesaving. There is nothing changed in the adamant recommendation we make to vaccinate children."
The Hotez family increasingly found itself angered by the controversy.
"Ever since Rachel was diagnosed, we heard about the possibility of thimerosal contributing to autism," said Rachel's elder sister, Emily, who is interested in studying the genetic causes of the disorder. "It has been frustrating because I know a lot of this talk about the vaccines, and how a special diet can cure autism. I know it takes away a lot of the funding that is needed to identify the biological markers of autism."
Peter Hotez told his wife it was amazing how much attention the media was paying to unfounded fears, when it paid so little attention to neglected diseases affecting the poor in the United States and other countries. Some 6,000 African American babies are born each year with congenital cytomegalovirus infection, a viral disease transmitted to babies in the womb that causes mental retardation and hearing loss. About 880,000 African American women each year come down with trichomoniasis, a parasitic infection. Another parasitic worm infection called toxocariasis causes asthmatic symptoms in about 2.8 million poor African American children. Hispanics are especially affected by Chagas disease, which causes severe heart disease, and cysticercosis, a parasitic worm infection that causes epilepsy.
Much of the time, the Hotez family is not thinking about public controversies; they are simply struggling to make do. For years, the family could not afford to have Rachel seen by a child psychiatrist, partly because there aren't enough child psychiatrists and because Peter Hotez found that his insurance offers very little coverage for serious mental health problems. Many specialists have stopped taking insurance altogether.
Dealing with Rachel was like having to tread water all day: It was exhausting. Instead of trying to locate blame, the Hotezes wondered why Congress was not moving to set up mechanisms to help families with simple things such as respite care -- having someone take Rachel out for a few hours on an enjoyable trip, while the family caught its breath.
In school, Rachel found herself lumped together with other autistic children, but because she is much more verbal than her peers, she has not been able to make connections with other children. But putting her in a classroom with normal children is also out of the question because, verbal skills aside, she is intellectually disabled. Emily, now 18 and about to be a sophomore at George Washington University, said she has had to share her friends with Rachel, or else her younger sister would have been left friendless outside the family.
"My hope is she can develop an intimate friendship or relationship with someone who is not a family member," Emily said. "She has never really had friends."
The Hotez family declined to allow a reporter to meet with Rachel. Peter Hotez the researcher and doctor can be matter-of-fact about autism, but Peter Hotez the dad cannot bear to let a visitor see his daughter, who has recently regressed to the mental level of a 3-year-old, with bouts of aggression.
"We all wish things were different," he said. "We hoped there would be a day when the girl comes out of Rachel."