It’s why we do what we do; as parents of children on the Spectrum, we know if we make the efforts our kids do everyday, their lives and their futures become brighter. Why do we read and agonize over IEPs, diets, treatment options? Why do we immerse ourselves with articles, information sessions, videos, and Autism support groups? It is certainly not for our own entertainment; we are the parents: it is our responsibility and our one true calling. We are here to apply all that we have learned to lighten their load and give them a real chance to become happy, well-rounded and independent adults. -Ed
Autism scientists search for help, for their own kids’ sakes
Kevin Pelphrey is one of the top autism researchers in the country. He’s also a father of three, including two kids diagnosed with autism spectrum disorders.
Neuroscientist Kevin Pelphrey has earned a Ph.D., a long list of awards and million-dollar grants from the National Institutes of Health.
None of that impresses his 6-year-old son, Kenneth.
“‘Dad,’ he says, ‘why haven’t you cured autism yet?'”
Young Kenneth has good reason to be impatient — and unusually curious about his father’s work, says Pelphrey, one of the country’s leading autism researchers. Two of Pelphrey’s three children — Kenneth’s big sister, Frances, and little brother, Lowell — have been diagnosed with autism-spectrum disorders.
“I’d really like to cure autism and be out of a job,” says Pelphrey, an associate professor of child psychiatry at the Yale School of Medicine‘s Child Study Center. “I wish I had more ideas faster.”
Pelphrey is one of a handful of leading autism scientists who also have children with the disorder. Autism-spectrum disorders, which cause impairments in communication and socializing, as well as repetitive behaviors, now affect one in 88 children, or more than 1 million in all, according to a new report from the Centers for Disease Control and Prevention.
High-functioning autistic adults are also contributing to the study of autism. In a recent essay in Nature, University of Montreal psychiatry professor Laurent Mottron singled out the work of a self-taught researcher with autism, Michelle Dawson, with whom he has co-authored 13 papers and several book chapters.
Families, of course, have a long history of rallying to the aid of their children, using whatever talents they possess. Most of the major non-profits funding autism research — including the Simons Foundation, Autism Speaks and the Autism Science Foundation — were founded by the parents or grandparents of people with autism.
Working for a cause
“It’s definitely why I do what I do,” says Edwin Cook, a professor of psychiatry at the University of Illinois at Chicago College of Medicine, whose autistic brother died in 1989 at age 28. He’s currently studying genes related to autism, as well as helping to lead advanced clinical trials of a drug to treat social withdrawal in autism. “I’ll die not knowing what I wanted to, but hopefully I will have contributed a little bit along the way.”
Ricardo Dolmetsch, an associate professor of neurobiology at Stanford University, says his son’s autism diagnosis has changed both his personal and professional life.
A decade ago, Dolmetsch was working in biophysics. He changed fields when his son, now 9, was diagnosed. Transforming the focus of his research, he says, was part of the “phases of grief” that parents often undergo when faced with a diagnosis of autism. After overcoming their initial denial of their son’s condition, both he and his wife felt compelled to “leave no stone unturned,” says Dolmetsch.
“It was very traumatic,” says Dolmetsch. “We had to change the direction of my lab. We had no funding. We had no track record. But it’s motivating for me and for my lab. There is nothing like working for a cause. It’s why we do what we do.”
Dolmetsch’s work has been singled out by Thomas Insel, director of the National Institutes of Mental Health, as a “game changer” in autism. To help scientists study the autistic brain — a notoriously difficult task, given that doctors can’t routinely biopsy the brain, as they might a colon tumor — Dolmetsch found a way to “create” brain cells in a lab dish, by transforming skin cells of autistic children into stem cells, then back into neurons, or brain cells.
This work was made more difficult, Dolmetsch says, by the fact that caring for a child with a disability is a full-time job. Although his wife, neurobiologist Asha Nigh, supports his research, such as through managing projects and writing grant proposals, she has put her own scientific career on hold in order to care for their son and his brother, age 7. In his opinion, Dolmetsch says, his wife has earned an honorary doctorate “in getting insurance coverage for stuff.”
“The finances of autism are brutal,” Dolmetsch says. “The amount of continuous care these kids need is a lot. … The only thing that works at all are behavioral treatments,” which, depending on the state and one’s health plan, may not be covered by insurance, he says. “They’re very intensive… and they’re horrifyingly expensive.”
In some ways, knowing too much about autism can be a burden, Dolmetsch says.
“On the one hand, I get insights from him and his buddies and going to the clinic,” Dolmetsch says. “The downside is that there is a certain amount of denial that is important when you are raising a child and you don’t know exactly what is going to happen to them. It’s harder to have that denial if you are a scientist. You’ve seen it in other people, and you know what can happen and you know what the statistics are.”
Still, Dolmetsch feels lucky that his work may help scientists better understand what’s happening between brain cells in children with autism, and even lead to new drug therapies. He also works hard to mentor young researchers and interest other scientists in autism.
Dolmetsch says he also tries to answer questions from other parents, who write to him for advice. Because there are so few effective treatments for autism, many parents turn to alternative therapies. In many cases, however, those therapies are ineffective, a waste of money or, even worse, dangerous, Dolmetsch says. Recently, he’s gotten a lot of e-mails from parents looking to go abroad for mysterious “stem-cell therapies,” he says, including treatments in which practitioners offer treatments made with stem cells derived from fat, at a cost of up to $30,000.
“There are a lot of hucksters,” Dolmetsch says. “They’re springing up everywhere. … In the best case, it’s fraud, because they will put the cells in your body and they will be attacked by the immune system and die. In the worst case, they will cause something terrible, like cancer. … This has to be fraud, because we are not about to put stem cells in anybody’s brain. People are just super desperate. I’m just as desperate as they are.”
Siblings change things
Pelphrey was studying a subject relevant to autism — the “social brain” — when his daughter was diagnosed, at age 4. Like Dolmetsch, he shifted his research to focus exclusively on autism. Insel notes that Pelphrey has helped to change the way people think about autism, by finding that the siblings of autistic children appear to share some of their brain patterns, but find ways to compensate.
“You can see why they’re so passionate,” Insel says.
Pelphrey didn’t think much of enrolling his youngest son in one of Yale’s research projects, assuming that the child would serve as a control group of “healthy” kids to their autistic siblings.
Instead, his son, Lowell, was also diagnosed with a form of autism, called pervasive development disorder-not otherwise specified, or PDD-NOS, at age 1½. In spite of Pelphrey’s expertise in autism, and experience as the father of an autistic daughter, he hadn’t noticed his son’s symptoms.
“We honestly thought he would get a clean bill of health,” Pelphrey says. “Then we found out he was developing toward autism.”
Thanks to that early diagnosis, Lowell began 32 hours a week of early behavioral therapy. He has made impressive progress. Today, at age 3, Lowell no longer has any autism-spectrum diagnosis, Pelphrey says.
“He’s not on the spectrum anymore,” Pelphrey says. “We kind of altered his developmental course. He still has subtle language and social deficits, and he’s awkward and shy. But it’s a matter of personality at this point. Frankly, he’s not all that different from most of my professor colleagues. I think he will have a very different life.”