Longform

The Scarlet Letter

Page 7 of 11

Within the next six months, according to Stephan, a genetic test will be available that will combine the gene found in the Amish population (since the study came out, Stephan says the gene has been found in the general population, too) with the genes found in half a dozen or so other studies conducted around the country. That will mean that high-risk newborns (from families with at least one child diagnosed with autism) will be tested at birth, if the parents agree.

"You mean the same kind of blood test they gave my Sophie at birth, where they took blood from her head and five days later we had a diagnosis?" I asked.

"Yes."

Now, Stephan is quick to point out that, unlike the test that simply uncovers the fact that a baby has a third 21st chromosome, resulting in Down syndrome, this will not be a definitive test, although the results will come back as quickly and easily.

Stephan estimates that there are between 10 and 12 distinct genes that, if damaged, will lead to the "miswiring" of the brain that causes different forms of autism. The test that will be available in six months will, he guesses, pick up maybe 20 percent of cases of autism. And more dangerous, from the perspective of the worried parent, it won't guarantee that a baby will one day be a child with autism. While the gene that causes the form of autism found in the Amish community causes autism 100 percent of the time, Stephan acknowledges that some of the genes that will be tested for do not result in autism, always.

This is where the environmental factors come in. Researchers now acknowledge, pretty much across the board, that taking a preservative called thimerosal out of childhood vaccines has not cut the rate of autism in this country or other countries. Parents, like some that Cheryl Fisher has encountered, are outraged. They cite specific incidents, where one day their toddler was babbling and happy, and the next day — after a shot containing thimerosal — began displaying the condition that would be eventually diagnosed as autism.

Thimerosal has been removed from vaccines, with no decline, experts say, in autism rates.

Stephan says it's not simple, but the answer may unravel with further genetic research and more complete tests. He believes that it's possible that there are specific forms of autism that do respond to what he calls "environmental insults" (like vaccines or exposure to heavy metals) and that once the specific forms can be isolated and identified, patterns will emerge. A parent will know his child has a damaged gene that will respond negatively to a particular stimulus — and will know to avoid that stimulus. At least, that's the theory.

"As we discover more and more, we'll start putting them onto that panel of genes that we test for," Stephan says. "The goal is that ultimately anyone who wants to get tested for this can order one test and get the whole thing done in one shebang."

It sounds revolutionary, but both Stephan and Denise Resnik, who chairs the board of the Southwest Autism Resource and Research Center, whose families donated some of the blood that is leading to some of the genetic discoveries, caution that this is just one small step.

"It feels gratifying to be the epicenter of hope, if you will, but I really want to see this happen sooner," Stephan says.

One day this summer, Resnik took a brief break to relax over albacore tuna salad with extra rice wine vinegar (her standing order at the Duck & Decanter) and talk about what TGen's discoveries will mean for families. Scientific research is just a corner of what goes on at SARRC, a nonprofit organization devoted to providing support to people with autism, and their families. SARRC is a one-stop shop for therapy, research, habilitation, support groups and, yes, scientific research.

The TGen work will give researchers a younger subset of children to study, she says. It "fuels the marathon."

"I feel really good about the place where we are now. But it's not the end of the journey," Resnik continues. "It just allows us to figure out where to go next."

"You're also going to scare the shit out of a lot of parents," I say.

"Yes." And there's a pause. "Now, you said that, not me."


I know my fair share about denial. Cheryl Fisher talks about how Madeline has "the look" — she says people know automatically that Madeline's different, that she has Down syndrome. My Sophie has "the look," too, although I didn't always think so. When she was a baby, I thought she looked like any other baby. Now I look back at pictures and realize that Sophie looked like every other baby with Down syndrome. Her occupational therapist warned me that when kids with DS turn 3 or so, their features become more pronounced, and Sophie's have. That's not to say that I don't think she's the most beautiful child in the world, tied with her sister Annabelle.

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Amy Silverman is a two-time winner of the Arizona Press Club’s Journalist of the Year award. Her work has appeared on the radio show This American Life and in the New York Times, the Washington Post, Lenny Letter, and Brain, Child. She’s the co-curator of the live reading series Bar Flies, and a commentator for KJZZ, the NPR affiliate in Phoenix. Silverman is the author of the book My Heart Can’t Even Believe It: A Story of Science, Love, and Down Syndrome (Woodbine House 2016). Follow her on Instagram (@amysilverman), Twitter (@amysilvermanaz), and at amy-silverman.com.