The Scarlet Letter
The little boy was perched atop a plastic mountain, the highest point at the Princess Playground, the name my girls and I have for the indoor play area at Scottsdale Fashion Square.
The small space was crowded that afternoon, but you couldn't miss the boy. Even though my daughters Annabelle and Sophie are 5 and 3, I'm bad at guessing the ages of small kids. I'm thinking this boy was around 4. You couldn't miss him because he was dressed exactly regulation-issue long-sleeved yellow tee shirt, black pants and a black leather belt like Greg, the original lead singer of The Wiggles. His hair was even combed like Greg's.
If you're not in preschool or the parent of a preschooler, you might not know that The Wiggles are the richest men in all of Australia, a kids' rock band that sold out to Disney and tours to crowds many adult rock bands would envy. They filled Gammage Auditorium, the day we saw them. One of their big hits is a cover of the song "Head, Shoulders, Knees and Toes."
It wasn't so odd that the boy was dressed like Greg. I have a friend whose son spent much of his fourth year dressed as a firefighter, which must have been uncomfortable during the summer in Tucson. What drew my attention was the fact that this little boy was not just dressed like Greg, he was Greg. He stood on that plastic mountain, while the other kids crawled around him, taking headers off the slide right in front of him, and he sang an entire set of Wiggles songs over and over, with the kind of precision you don't see from The Wiggles themselves.
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He didn't ask the others to join along, or seek approval from the "audience," which really just consisted of me and his father, who was balancing a newborn and a cell phone, paying no attention to the umpteenth rendition of "Hot Potato, Hot Potato." All the other parents were assiduously looking the other way.
Ten, 20, even five years ago, the crowd might have enjoyed little Greg's performance, giving Dad attaboys. "Isn't that cute?" Now, everyone looked uncomfortable. A weird little kid just doesn't mean the same thing, these days.
I wondered if they were wondering the same thing I was: "Where's that kid on the spectrum?"
"The spectrum" is the autism spectrum. It refers to a range of behaviors, from Asperger's syndrome, a mild version of autism marked by odd tics, a hard time socializing, and, usually, very high intelligence, to the kind of autism you saw in Rain Man, where the guy really can't function well at all in the real world. The sit-in-the-corner, rock-back-and-forth-with-your-hands-over-your-ears kind of autism.
Autism is not a disease, it's a syndrome. But unlike Down syndrome, which my daughter Sophie has, autism is not diagnosed with a blood test. Instead, it's identified with a series of tests that can range from a list of questions given to parents to an intensive examination of the child's behaviors. Either way, at the moment it's an inexact science.
Soon, it won't be. Turns out, there is likely a genetic component to most versions of autism.
In about six months, researchers here in Arizona will begin genetic testing at birth, for certain forms of autism. They figure they've now identified maybe 20 percent of the genes that, when damaged, lead to autism. But they expect to add genes to that until they can test with 90 to 95 percent accuracy. There will still likely be a small percentage of cases of autism that are strictly caused by environmental factors (a current concern is over an additive used until recently in childhood vaccines). That will shut down a large, loud group of parents convinced there is no genetic component, but instead only outside hazards, affecting their kids.
And it will raise the complicated questions that genetic testing raises.
The testing might also lead to incredible treatments, with medication and advanced therapy.
Or, ultimately, it might just lead to more abortions.
After all, if parents know their kids will be facing a life with autism, they might do just what many of them do today when they learn about conditions like Down syndrome.
Any medical advance comes with consequences.
Today autism is five times more common than Down syndrome. That is because there are more cases of autism diagnosed. It is also because there are fewer and fewer children born with Down syndrome. Not because there is medicine to "cure" DS, even though the chromosomal abnormality that causes it was identified in 1959. It's because prenatal testing is so advanced, and more parents are learning of the condition earlier in pregnancy and choosing abortion.
I have to stop right here and tell you now that I am vehemently pro-choice. But I did not choose to have a baby with Down syndrome. I avoided the amniocentesis, the guaranteed answer, after the ultrasound tech turned off the machine, looked me in the eye, and said, "I'm not supposed to say this, but your baby does not have Down syndrome."
If I'd known for certain that Sophie had Down syndrome before she was born particularly if I'd known when I was 11 weeks pregnant I honestly don't know what I would have done. I can tell you I'm glad to have her now.
Ever since Annabelle was born, I've been seeing or hearing about little kids with autism. They say one in every 166 live births results in a case of autism (and one in 106 boys). In 1995, it was one in 2,500 live births. A lot of people say autism is simply the medical condition du jour, that it's being diagnosed more, and that's the reason the figures are on the rise. Maybe, but the experts I talked to say that can't be the whole picture. They honestly don't know why the numbers are so high.
The statistics make it sound like the autism diagnosis takes place at birth, but it doesn't. Many cases of autism don't present themselves 'til the child is 2 or 3, although some cases are identified earlier.
I heard another scary statistic recently: Half the cases of autism diagnosed in this country don't come 'til kindergarten, or after. That eliminates the chance for "early intervention," a popular buzz phrase among child advocates. I was startled to learn from several of the therapists and psychologists I talked to both about Sophie, and for this story that there have been no definitive studies that show that early intervention really works. Anecdotally, though, the proof is there, particularly with autism, where occupational therapy addresses sensory issues and there are particular ways to address late speech.
Dan Kessler, a developmental pediatrician in Phoenix, is a big believer in early intervention, although he acknowledges the lack of studies. He is concerned because he sees mainstream pediatricians in town miss autism in their patients all the time. Or avoid it.
"Doctors don't want to use the autism label," he says, because to them, it's untreatable. He disagrees.
Sitting at the Princess Playground, talking to therapists, watching kids at day care, I came up with a story idea. I even had a headline, "The Scarlet Letter." I wanted to write about the kids with mild autism not the head-bangers, but the kids you weren't quite sure about, kids like "Greg." From what I was hearing, their parents weren't quite sure, either. And as I talked to developmental pediatricians, school psychologists and teachers, I realized there was a pattern that the kids with mild autism, or PDD ("pervasive developmental delays"), were sliding through the system, undetected or, at least, hidden their parents ashamed to let on, even to the people who could help them.
I know a lot about denial, myself. (More on that later.)
At the same time, I started researching the efforts going on here in Phoenix to develop a medical test for autism. (More on that later, too. It's pretty incredible.)
But what I needed for the story was parents. Parents in denial. I've worked at New Times for almost 14 years, so I know the formula (sorry to bust the mystery of long-form feature writing, folks, but there usually is a formula): find an individual's tale and use that to tell a bigger story. But I had started backward, here. I had found a bigger story, but how was I going to find the one person whose personal experience would paint the picture?
"Excuse me, sir. Oh, sorry, I see you're on the phone and holding an infant. That's your son over there, right, the one performing Wiggles songs? Well, um, I was wondering. Is he autistic? And if so, are you in any sort of denial over it?"
Somehow, that just wasn't going to work. Nor could I approach the mom I was behind in the checkout line at Safeway the other day.
"Ma'am. Uh, MA'AM! Yes, I know it's hard to hear me over your son's shrieking, but, see, I'm a newspaper reporter, and I was hoping to ask you a few questions about your child's obviously unusual behavior."
That poor woman. Her son was so cute, with long, shaggy hair and a sweet face, and she was clearly having a stressful day she had to put some items back, Terms of Endearment-style. I've never heard that kind of a noise come out of a child.
No, the man-on-the-street thing wasn't going to work. Sophie's therapists, and doctors, who had talked on background, weren't going to introduce me around. The developmental pediatrician and school psychologist were helpful, but they didn't give me any names. One day I was seated at a luncheon next to Denise Resnik, who started the Southwest Autism Resource and Research Center. Her son Matthew is 15, and autistic. While working on this story, I got to know Denise. She's an amazing woman with a fascinating story, but it's not about denial. And the people getting services at SARRC aren't in denial, although I interviewed several employees there who also confirmed my thesis.
My next stop was going to be the grandparent support group at SARRC; maybe some of them would rat out their kids. But before I could call the head of the group, I found the parents I needed. They were in the most obvious place, the place I never thought to look.
A few months before Annabelle was born, a friend asked me to teach a class called Mothers Write. I'm pretty sure I was simply the closest thing to a mother anyone could find, at the moment. I certainly wasn't qualified to teach the class. In fact, I declined, thinking the whole concept was stupid. I hated the way our society segregates parents.
Then Annabelle was born, and I found myself picking up the phone, begging to teach the class.
I started in the fall of 2001, and quickly teamed up with another mom, Deborah Sussman Susser, who took the class that semester. Deborah is a gifted writer and editor, and we had fun teaching together. We've taught the class ever since. It's a mix of memoir, fiction and poetry, all by moms, often but not always about motherhood. A lot of our students call it therapy, which makes us cringe. Really, it's more like a moms' group for moms who aren't into moms' groups. I don't like that comparison, either, but it's apt. Whatever you call it, I love it. From time to time we run into some truly gifted writers, and every student has amazing stories to tell.
For the most part, I'd always tried to keep Mothers Who Write (the name eventually morphed) separate from my work at New Times. At New Times, I've always said, I can be a bit of a motherfucker. This class lets me be a mom.
So I wasn't thinking at all about the autism story, the night Cheryl Fisher read her piece about her daughter, Sophie.
Not long ago, I said to a babysitter, "I'm not your typical special-needs mom."
"Well, what is a typical special-needs mom?" she shot back.
Ouch. Point taken. But if there ever was a non-typical special-needs mom, it's Cheryl Fisher. This woman is not a typical anything. She's in-your-face, always with a purpose. Not the most popular girl on the message boards she loves to frequent. Cheryl and her husband John adopted their three children, and while I knew from conversations with Cheryl and previous writing she'd done in class that Madeline, her middle child, has Down syndrome, I didn't know Sophie's or Zach's diagnoses.
I can't remember the assignment that night, but Cheryl's piece, called "Water Through My Fingers," recalled a day when her Sophie, then 5, was out of sorts. Cheryl took her into their favorite nook, a space under Sophie's bunk bed, to read and tell stories. But Sophie grew frustrated, and had a temper tantrum. Not a typical kid's temper tantrum. You can read the entire piece here. Here's an excerpt:
I held my little girl in my lap, struggling to keep her there. She was crying, moaning, banging her head and flaying. She hit me often and she seemed to like doing that. Soon, I, too, was screaming, crying, pleading. It was useless to change any of this, though. It was like trying to hold water through my fingers . . . I can still feel the bites and bruises. My sympathy for her quickly gave way to self-preservation, but, still, I was unable to let go. We had come so far together, she and I. I barked orders to myself in my head: "She is your daughter. Take it; hold on, squeeze tight, you can do this, you must do this!" My brain was hissing at me. I felt myself loosening my hand-hold on her. I needed to let her to go, to save myself from further hurt, but I could not. I cannot tell you why. In an instant, all I could do was think to read the book that lay beside me. The book was there, I saw an out, and I needed to refocus myself. Maybe I needed to shut down for a change, so I picked up the book and began. She continued to scream, cry, struggle and strain. I pointed at the pages. My husband stood back, helpless, unable to get into the small, tight space under her bed. She and I were present in the moment, each of us doing what was necessary, but neither of us liking it. I wished I was anywhere but where I was and with anyone else, as well. I was there, however, and everything I held dear was in that moment. It was vital to have her be safe, to keep her here.
As quickly as it started, the tantrum ended, slowing like a dying storm, leaving Cheryl and Sophie back with the book. Cheryl's piece was lovely, very powerful. But as is almost always the case in a writing workshop, there were questions.
The process we follow in Mothers Who Write is simple. The author reads her work aloud, then sits quietly while the others discuss the piece as if she isn't there. Later, she has time to ask questions. One thing I noticed when Cheryl read was that she had not mentioned Sophie's diagnosis.
The conversation went something like this:
"So," I asked the class. "What do you think about the fact that in this piece, we don't know what's 'wrong' with Sophie? Don't you think it would help to know what her diagnosis is, so we have a better understanding, off the bat, of what Cheryl is dealing with?"
Cheryl interrupted. (The students often "cheat" and interrupt; it's hard to be quiet when someone is challenging your work!)
"I can't do that," she said.
"But why?" I asked, oblivious. "You've written about Madeline having Down syndrome; you didn't seem to have any sort of problem with that."
"But you can look at Madeline and tell what's wrong with her," Cheryl said. "You can't tell, by looking at Sophie. I need to protect her."
I kept pressing, still clueless, and finally, Cheryl blurted it out:
Oh. DUH. How could I have missed it? There was my example, my anecdote. I e-mailed Cheryl after class, and she eagerly agreed to open her home and her family for storytelling purposes.
The Fishers live in far north Phoenix, in a small enclave not far from Anthem. Their home is neat and bright, with a big wooden kitchen table that appears to serve as the epicenter for most family activities. Cheryl is obviously very organized, and you'd have to be, to juggle the schedules of three active kids, all of whom have complicated school, therapy and medical schedules. With a clear-cut medical diagnosis and the accompanying mental retardation (although even with Down syndrome, someone still has to "test" your 3-year-old to determine she's mentally retarded), Madeline easily qualified for state services. Cheryl fought hard to get Zachary, who is now 3 and has a mild case of cerebral palsy, qualified for the public special-needs preschool.
She pushed the hardest for Sophie. And while Cheryl isn't so crazy about sharing Sophie's diagnosis of autism with the world, for fear it will brand her daughter (because to look at her, Cheryl's right, you'd never know), the Fishers actually sued their local school district to get Sophie labeled autistic, so she could get the right services.
"We went in there with medical reports pardon the expression out the ass," Cheryl says.
Cheryl rushes through her story, mindful that at any moment, the bus will deposit her kids at the front door. It's the last week of school, and Sophie's been out of sorts. Transitions are hard.
"This morning I went to hug her and she freaked out," Cheryl says.
The kids tumble off the bus and deposit their backpacks at the front door. It's obvious at first glance that Madeline has Down syndrome. Cheryl always has to laugh, when she talks about her younger daughter. One of the hallmarks of Down syndrome is a cheery disposition, but apparently no one sent that memo to Madeline, who her mother says can be downright mean. Cheryl laughs about it she clearly adores Madeline, who does, in fact, walk in with a scowl on her face, eager to get to the kitchen table and her Wiggles coloring book. Neither Zachary nor Sophie appears "special" in any way, although it does become apparent, when she joins her sister at the table, that Sophie has some challenges. Like many autistic kids, she doesn't usually meet your eye. Like her mother said, she is out of sorts, inconsolable in a quiet way wandering in and out of the house, from the backyard to the kitchen. Madeline finally cracks a big smile, pumping high on a swing just outside the arcadia door, instantly smudged from so many exits and entrances. The kids interact, but not much. During my visit, there are no big meltdowns, no temper tantrums. Just lunch, and several sippy cups.
I had been associating the whole denial thing with the lack of a medical diagnosis, but the interesting fact about Sophie Fisher is that she's one of the few autistic kids out there who does have a medical explanation for her condition. She's got Fragile X, a genetic syndrome that affects the 23rd chromosome. It results in mental retardation and, often, autism. The Fishers didn't know Sophie had Fragile X when they agreed to adopt her; they knew her mother was a carrier and assumed she would be, because commonly, Fragile X is passed from mothers to boys. It's very unusual for a girl to have it.
A genetic condition is responsible for Sophie's autism, and the Fishers aren't responsible for Sophie's genes. Maybe that's why Cheryl clashes so often with other parents on the autism support message boards. She goes nuts over the parents whom she says spend all their time looking for a cause and a cure for their kid's autism, worrying about vaccines, she says, to the detriment of the health of their own kid and other kids, not to mention the time they miss just being with their child. Cheryl shared one of her posts, which read in part:
You know what? I don't CARE that a gene made my children "different"; in fact, I know it DID! (We have genetic results to prove it!) I would LOVE to know: has YOUR child been genetically tested? Do you know FOR SURE your child DOES NOT have Fragile X, or might that possible reality just be too scary to explore? Can you even consider that, regardless of the centuries old "mess" we humans have made upon our world, that you, in fact, may be the partial cause for your child's disability?
With all the talk about "causes" and "cures", maybe the thing that needs to be said and sadly never is is simply this: WHO CARES!? Your child has Autism. Maybe they have a genetic disability that, if you had them checked, you might know about, too. This might be helpful for your child as they grow up and maybe plan their own families someday. Maybe someday you might find your cure. I hope, for your sake, you are successful. Me? I'll love and accept my children as they are, thank you very much. They are each special in their own way and, hell, if they were "perfect" you know, "blonde hair, blue eyed", in ways others once thought an ideal race should be then my husband and I would not even have them. Their own biological parents would have kept them, and maybe everything would have been "perfect" . . . for them.
. . . Some of us do not want to "cure" anything we are simply content to live our lives, and to assist our children to live as best they can. We live in an imperfect world, yes, but not everyone believes the world is out to get them. Please, let's be careful to remember that some subjects can be best addressed by those who live them and that some people are simply not where you are. That does not make us wrong it makes us different. Genetically, emotionally, intellectually, biologically it's all different, and it is ALL OK. Just some "food for thought" from a different thinking mom.
Cheryl Fisher makes some very good points, but the truth is that she has her medical explanation. Most parents do not. And yes, it drives them nuts, trying to figure out what it all means, and what could have led to their kid's condition. Whether it's about putting those demons to rest, offering a clear-cut diagnosis that will force parents out of denial, or even ultimately finding a pill that will "cure" autism, the medical race is on to find the genetic cause of autism. And many experts do agree, at this point, that almost all autism is based in genetics, meaning it is inherited.
The story about the people and the science intersects here. In March 2005, there was a big ribbon-cutting ceremony for the building in downtown Phoenix that houses the Translational Genomics Research Institute, or TGen. That name is a big mouthful of gobbledygook, and so were the explanations of TGen I read in the local press at the time. I couldn't get my arms around what genomics research really meant, not until I sat, a year later, in the office of Dr. Dietrich Stephan, the director of Neurogenomics at TGen and the head of the autism research program.
TGen is a big deal. Last week, the news of the institute's discovery of a link to the cause of ALS, or Lou Gehrig's disease, made national headlines, and within science circles, TGen, Stephan and his colleagues are held in high esteem.
Isaac Kohane, an associate professor at Harvard Medical School, co-director of the school's Center of Biomedical Informatics and a pediatrician by training, calls Stephan "a colleague and a worthy competitor."
Stephan is a sweet, baby-faced man, who, when I met him, winced a lot. He'd just had knee surgery, following a skiing accident. But he was at work, which is where he admits he usually is, racing the clock to find the genes that cause not just autism, but a list of other medical conditions: Alzheimer's disease, Lou Gehrig's disease, cancer. It can be a real downer of a job, except that in the past several months, TGen has had enormous success in identifying genes. (Here I must disclose that my father is on the board of directors of TGen, something I didn't know when I embarked on this autism story. He's no scientist everything I've told him that I've discovered, in the course of writing this story, has been news to him.)
I toured the lab, which looked very impressive in that scientific kind of way, and Stephan gave me some tiny plastic containers that held genetic samples used in an Alzheimer's study. But what was really impressive was the study he handed over; it had just been published in the New England Journal of Medicine. The title: "Recessive Symptomatic Focal Epilepsy and Mutant Contactin-Associated Protein-like 2."
Now, that is a mouthful. What it means is that with the help of the Clinic for Special Children in Strasburg, Pennsylvania, Stephan and his researchers gathered DNA samples from several children who all had the same form of autism: a very severe form, accompanied by a horrible form of epilepsy. The seizures in these children are so bad that at times, Stephan says, the treatment is to remove half the patient's brain.
Through this study, the TGen researchers identified one particular gene that, when damaged, they say will cause this condition 100 percent of the time. That was a huge discovery. But it accounts for just a tiny fraction of the cases of autism out there.
And it won't necessarily lead to a cure. The day I met with Stephan at the TGen laboratory, he was very cautiously optimistic and visibly uncomfortable when I asked him just what this would mean. Naively, I was thinking it would lead almost immediately to the development of a magic cure-all pill.
No, he said. Not yet, at least. "Every time I say the cure word, I sort of stumble on it," he said. "I don't know if it's ever going to happen, I don't know when."
I pushed him with questions about what the discovery meant. Stephan looked pale, maybe from the pain in his knee or the fact that he knew I had a child with Down syndrome (and had obviously not chosen abortion, although he doesn't know the story's more complicated than that), and finally, he admitted that, no, there was not going to be a cure for autism, not anytime soon at least. But you'd know before the child was born, he said, and therefore would be able to "avail yourself of reproductive options."
When we spoke a few months later, Stephan had more information, and, I'm guessing, had come up with some better spin. It hadn't been long, he cautioned, but once they found the gene that caused that horrible form of autism in the Amish population, doctors had identified several children who had the gene, but had not yet developed symptoms. The children are being given medication early, and it's too soon to tell for sure, but it looks like it's staving off the condition.
"We can now test kids who aren't affected yet, for this gene mutation, and we've been doing that," Stephan says. "We can start to treat them pre-symptomatically, and we've done that, and it looks like you can really have a positive benefit by treating these kids before their autism and seizures strike."
Even more amazing is what will happen next. I had hoped to break this news, but word leaked out this summer when the Arizona Legislature approved $7 million in funding for the research. Still, I didn't read a single account that actually explained what will happen, which is this:
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.
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.
Sophie's adorable. She has long eyelashes, plump pink cheeks and, since she started walking a few months ago, a great strut. She also has almond-shaped eyes, a pug nose and straight hair telltale signs of DS.
Even though I look at her and think it's obvious, apparently not everyone out there has been around a kid with Down syndrome, because I do run across people who don't realize she has it. Not long ago, the parents of a college friend of mine came to town, and I brought the girls to meet them at their hotel. My friend's parents had another friend along, and a few days after we'd all met, my college friend called to say that his mom's pal hadn't realized Sophie had Down syndrome. "She just wanted to know why Sophie had dark circles under her eyes," he reported.
I rode that wave for a few days, 'til I crashed in the checkout line at Safeway. The cashier looked at Sophie with a wide smile and announced, "I have a daughter with Downs! She's 22."
"Oh!" I said cheerfully. "How's she doing?"
The smile got fake. "Good!" came the obvious lie.
That's a typical encounter, I hate to report. So you can see why I sometimes do roam the aisles of Target, pretending that Sophie is "normal."
One of Sophie's therapists told me a story about a mother of a child with Down syndrome who really was in denial. Apparently, the mom had received the news when her daughter was born, and did seek out therapy from the state, but every time anyone would even mention the diagnosis, she'd pick up and leave. She moved all over the country. The story just doesn't really make sense, but somehow, I can see how it happened.
And I can see why Cheryl Fisher doesn't want her Sophie branded with a big A for autism.
The conundrum is that you can't get services including therapy, some medical care or special education without a label. In Arizona, until a child is 3, you don't need a diagnosis more formal than "speech delay." But once that kid hits 3, he or she must be found to have one of the four: mental retardation, autism, epilepsy or cerebral palsy.
No one I've talked to has ever seen a case of Down syndrome that was not accompanied by a slow enough intellect to qualify for services, but still, Sophie had to be tested, and of course I held out a little hope, in the back of my mind, that she'd be a medical miracle. She wasn't, although they put her IQ at 69, one point shy of the high end.
In the end, Sophie failed the intelligence test, which means she passed. She qualified for services.
With autism, there's such a range that a kid could be at the high-functioning end of the spectrum and still not qualify for services. The child has to be labeled as autistic, rather than with the milder PDD ("pervasive developmental disorder"). I've spoken with many parents who report that their doctor's private diagnosis was PDD, but that officially, it was autism so the kid could get services. There is even a pediatrician in town nicknamed "Dr. Death," because reportedly, you can get that doctor to give you any sort of diagnosis you need.
With that sort of thing going on, it's so hard to get a handle on actual numbers. On one hand, there are parents so deep in denial they won't send a kid to preschool, for fear someone will point out that the child is odd. On the other hand, you have kids diagnosed in order to get something out of the state. And then there's that statistic about how half the kids diagnosed aren't labeled 'til kindergarten.
That statistic really worries me, because of something else going on in the system. In July 2005, changes to the Individuals with Disabilities Education Act (IDEA) took effect, changing the way special-education services are delivered.
Here's how the law works. I'll get to the change in a minute. When a kid enters public school, presumably kindergarten, the school has 45 days to screen new students and recommend special-ed evaluations. If an evaluation is deemed necessary, the parent must consent. If the parent does not consent, the school, under the auspices of the state Department of Education, has the ability to bring the parent to mediation or a hearing, to try to force the issue.
Until July 2005, parents had the right to refuse services, once a special-ed determination was made, and the school had the ability to force mediation or a hearing in that case, too.
In reality, schools almost never requested hearings because it was too expensive. And ultimately, the law as it was written and practiced led to lawsuits from parents who, years later, realized that their kids whoops in fact should have had services, and sued the district, saying, in effect, "You should have forced it on us at the time."
So the Bush administration and Congress changed the law. Now IDEA still requires that the students be evaluated. And if a parent refuses, the district can still take the school to mediation or a hearing. But once it's time to begin delivering services, if the parent says no, the district says "Okay," and walks away. Case closed. The parent's decision is final and the district can't take it further. Nor can the parent come back years later and sue, saying the school should have forced the services.
No one can say how many autistic kids are slipping through that crack, but judging by the population I've seen firsthand, there are some.
Apparently, the denial thing just goes on and on, into adulthood. I couldn't get more than halfway through The Curious Incident of the Dog in the Night-Time, the novel written from the perspective of an autistic teenager, but I raced through another book that came out recently. Send In the Idiots: Stories From the Other Side of Autism was written by a guy named Kamran Nazeer. Nazeer, who is Pakistani, was raised in New York City, where, when he was 5, he attended a school for autistic kids.
Nazeer is clearly on the very high-functioning end of the spectrum (I won't ruin the book by giving away his final diagnosis) and works as a policy analyst for Parliament in London, where he now lives. He got the idea to track down several of his old classmates and see what had become of them. The book plays with the nebulous definitions of autism. Without a blood test, an autism diagnosis is like a hologram. Look at it one way, and the person has trouble relating to others, shows other classic signs of the syndrome. Look at it again, and he's just an odd duck.
For me, the striking part of the book is that it shows that the struggle over whether to accept a diagnosis of autism continues on into adulthood, particularly for the high-functioning.
The book's title, Send In the Idiots, comes from a classroom anecdote: One of Nazeer's teachers had the habit of reading the newspaper headlines to the students each morning, and when she did, one member of the class, Greg, always stood up and yelled, "Send in the idiots! Send in the idiots!" over and over. Nazeer tells Greg's story, along with several others. He also tracks down Andre, a classmate who is living in Boston with his sister. Andre is doing pretty well, although he does lock Nazeer in the bathroom shortly after the following scene. Andre often communicates using puppets, and this excerpt is about the autism label.
Andre went on to study computer science. He excelled at it and was offered a research job straight out of college. I know computer scientists who do their programming from inside tubes made out of tinfoil, who obliviously wear pants with embarrassing holes in them, who devote their living rooms to experiments in super-cooling processor chips, or who can recite Ovid's Metamorphoses backward, and none of them is autistic. Though I knew that Andre was autistic, still, when I saw him sitting on a brown leather sofa with a wood frame that matched the finish of the coffee table, in a room with nice table lamps and a vase full of fresh flowers, he looked more normal than any of those computer scientists. Then I noticed that there were three more puppets on the coffee table and I noticed the content of the poster above his head. I recognized it immediately. It was a blown-up quotation from the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders.
Before age three, the patient shows delayed or abnormal functioning in 1 or more of the following areas:
Language used in social communication.
Imaginative or symbolic play.
"Oh, my sister put that up."
"You don't mind it?"
"I don't mind it," he replied. He picked up a puppet from the table.
"Why leave people to guess whether I am autistic or not? It's hardly a game," pointed out the puppet, whose name, I later learned, was Ben-Gurion.
But of course, without a medical diagnosis, for many people it is a game.
Each time we begin a new Mothers Who Write workshop, Deborah and I ask the class members to introduce themselves and tell us about their families. Right away, Kathy Hoffman announced that she had a son with autism. And when she overheard me talking to Cheryl Fisher about the story, she volunteered to be interviewed before I could even ask.
Seth will be 12 in March. He was diagnosed at about 4. Kathy's husband, a lawyer in town and a "Harvard-Princeton guy," had a harder time with the diagnosis, she recalls. But Kathy had started off as a psych major.
"I felt a little hip on it," she says. The Hoffmans only knew one other family with a child with autism, at the time. Kathy is convinced that Seth's autism is genetic, and she figures she doesn't mind the label so much because Seth went through a lot at birth. He almost died when meconium (the waste produced by a baby in utero) clogged his lungs.
Unlike many autistic kids, Kathy says Seth was always cuddly.
"He'd laugh. He had a great laugh. But he had his rigid stuff. And he had that thing where you could put him in front of Sesame Street for three hours and he'd be happy."
And he freaked out in the car, a place most babies love to sleep. Didn't walk 'til 17 months, talked late and always wanted to play with light switches on play dates. When she got the diagnosis, she says, "I was relieved. Now this all makes sense, it connects the dots. . . . With a label, I could put a name to this crap.
"It was like putting on glasses. Nothing was blurry anymore."
Seth's in fifth grade now, and while it was a struggle to find him the right setting, the Hoffmans are happy with where he is a public school classroom specifically designed for autistic kids.
The key, Kathy says, is finding the right place for him, always. She hears about parents sending their autistic kids to a regular summer camp.
"I'm like, 'Oh, God, poor kid.'"
And then there's Sunday school. The Hoffmans belong to a large synagogue in town, with a big school. At some parents' urging, the school created a special classroom for autistic kids. Kathy showed up the first day, surprised to see only three kids in the room, including Seth. She'd heard there were at least 10.
She complained to the director of the school, offered to call the parents herself. Don't you dare, the director warned. So Seth's in a classroom with two other kids and two teachers.
"That's just insane," Kathy says of the other parents. "They're all in denial. . . . Just because [their kids are] in a typical classroom doesn't mean they're going to be typical."
In public school, she runs into similar issues. Seth is on medication (a topic for a whole other story), and, one day, his bus driver asked her what kind he took. The teachers aren't allowed to ask, the bus driver explained, so the driver wanted to get the information and pass it on to parents who might need it.
"The teachers are scared to death to say to the parents, 'Your child is autistic. Your child needs medication. Your child needs a special classroom,'" Kathy says.
Her conclusion: "There should be a child advocate that's just for the child, where the parent's not involved. Just for the child."
But every good parent is an advocate for their kid. Or thinks they are. Right? Sometimes it's just not that simple. Particularly when it comes to autism, and a movement that has emerged in books and on the Internet, involving "late-talking children" and this doctor in Tennessee named Stephen Camarata.
Camarata has a body of research popularized by a writer named Thomas Sowell, who's published two books on the subject, including one called The Einstein Syndrome: Children Who Talk Late. Camarata's a professor of Hearing & Speech Science at Vanderbilt University School of Medicine and director of the communication and learning research program at the Vanderbilt Kennedy Center.
Boiled way down, Camarata and Sowell advocate that some very smart kids talk late, and that while late-talking is one of the symptoms of autism, if it's not accompanied by other autistic behaviors, a late talker is not necessarily an autistic child.
I can buy that, I guess. As long as I remember that my mom chuckles over the fact that I didn't talk until I was 3.
The other day I called my mother.
"So, you know how I didn't talk 'til I was 3? Do you think I would have been diagnosed today as autistic?"
She cracked up. "Oh, no, honey, you weren't autistic. You were just slow!"
Soon, there just might be a genetic test that will clear up such mysteries. That's a good thing because with early intervention so important, skipping therapy for autism in favor of Camarata's theory can cost a kid months or years of precious time.
Google Camarata or Sowell, and you come up with a list of warnings from parents who initially preferred calling their kid "late talker" to "autistic." I e-mailed Camarata and asked him if he worries that parents are drawn to his theories as a way of avoiding a diagnosis of autism.
He responded quickly:
"I advise parents to get an accurate diagnosis, which certainly can include autism," Camarata wrote. "On the other hand, it is clear that not all late talkers are autistic, so it is crucial that parents seek a thorough differential diagnosis. . . .
"Consider this parallel medical example," he continued. "I was diagnosed with type 2 diabetes at age 46. In fact, it turned out that I have type 1 (insulin dependent) diabetes. If the original diagnosis had not been followed up on, I would have died last year or the year before because I need insulin to live whereas most type 2s do not receive insulin. An accurate diagnosis and appropriate treatment were crucial to me. . . .
"I have never and will never suggest that diagnosis or treatment should be delayed, but will insist on accurate diagnosis and appropriate treatment (if needed). If a child is late talking and this requires treatment, any intervention should include, as a primary focus, helping the child learn to talk. Some parents report that they are pressured to accept a diagnosis they do not agree with 'to get services.' Families should never be forced to accept an inaccurate diagnosis any more than I should have been forced to accept a diagnosis of type 2 diabetes when, in fact, I have type 1. Thank goodness my physician kept an open mind and followed up on the original diagnosis!"
There's one more student of mine I spoke to for this story. She didn't want to be identified. When her son was finally diagnosed as autistic (borderline PDD, but the doctor wrote "autism" so she could get services), it was after a lot of back and forth over late talking. Just before she visited the doctor, she spoke to a dear friend whose own child has special needs.
"She said to me, 'Look, what if they tell you he's got autism? What are you going to do?' I said, 'I don't know. I'm gonna freak out.'
"She said, 'No, you're not. You're going to cry and you're going to grieve because you thought you were going to have a typical child and you don't. But then you are going to love him as much as you possibly can and get him everything that he needs.'
"It was probably the wisest thing anybody's ever said to me."
So what's it like, having an autistic kid?
"At times, it's the most rewarding thing in the world, when I see what a difference I can make in his life," she says. "He's teachable. Not that he always does what he's supposed to do and whatever, but when he has those moments when he's so proud of himself even though you've stood at the refrigerator with him with a cup of water for half an hour, waiting for him to say 'wa' and ask for it, and when you've done it over and over and then it finally dawns on him, you kind of go, 'Oh my God.' It's just an awesome moment.
"And then at times you still cry."
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