Dealing with the Diagnosis
The number of kids affected is staggering, but an early diagnosis can make a dramatic difference.
One Mother's Story
By the time Lennon reached his first birthday, Shannon Gunn-Burghart had a disquieting feeling that her son was developing differently from his twin, Frannie.
"I'd sit them both on my lap to read a book, and while Frannie was attentive, Lennon would show no interest," the Texas mom recalls. "Over the next few months, Frannie was starting to speak in sentences, but Lennon only knew two words, mamma and ball, and even then he didn't seem to know what they meant. On playdates, Frannie was involved and attentive, while Lennon paid no attention to the other toddlers."
Gunn-Burghart repeatedly brought up her concerns to her pediatrician, who reassured her that boys developed more slowly than girls. But to Gunn-Burghart's dismay, as Lennon got older, he slowly began to slip away -- not speaking, not responding to his name, and not making eye contact. "The turning point came after his second birthday, when I called his name while he was watching a video," she recalls. "He didn't acknowledge me. I kept repeating it, louder and louder, until I was hysterically shouting his name, and he still didn't seem to notice."
Terrified, Gunn-Burghart raced to make appointments with specialists, shuttling Lennon from doctor to doctor until finally one diagnosed him with autism. "It was like being thrown into the Black Sea -- just hearing those words was devastating," she says. "But once I knew what was going on, I focused all my energies on getting him into treatment."
Today, Lennon is much like any other 4-year-old: He plays with Frannie, runs to his mother for hugs, and loves swimming. But Gunn-Burghart says she's still frustrated that it took six months to get a diagnosis: "That was time in which my son could have benefited from therapy," she says. "I am so grateful that I listened to my instincts."
Types of Autism
While the word "autism" may conjure up the image of Dustin Hoffman's character in the movie Rain Man, struggles like Lennon's are now diagnosed as autism too. That's because the condition is now termed Autism Spectrum Disorder (ASD) and encompasses a wide range of symptoms. It affects 1 in 166 children, according to the Centers for Disease Control and Prevention (CDC) -- a 172 percent increase since the early 1990s. When it was first identified in the 1940s, the disease was greatly misunderstood, "but now decades of research reveal it's a developmental disability due to a neurological disorder that affects brain functioning," says Chris Plauche Johnson, MD, professor of pediatrics at the University of Texas. "Typically, signs include communication problems, trouble with or little interest in interacting with others, and unusual behaviors such as rocking or rolling eyes."
Also falling under the umbrella of autism is Asperger's disorder, known as "high-functioning autism," which is often overlooked because symptoms are dismissed as social awkwardness. What do children with autism have in common? "They all have the potential to improve, sometimes dramatically, if they're diagnosed and treated early in life," says David Holmes, MD, past chairman of the Autism Society of America.
Is There Really an Epidemic?
Rates of autism have been growing 10 to 17 percent each year, according to the Autism Society of America. Worrisome? Yes. But experts stress that much of this increase is due to doctors simply getting better at identifying this disorder. "Kids who are getting diagnosed as autistic today would simply have been dismissed as mentally retarded 20 years ago," explains Johnson. "Mild cases of autism were most likely missed completely."
Scientists are still teasing out autism's causes, but the consensus is that genetics -- not environment -- play the larger role. "If an identical twin has autism, the chance is about 90 percent that the other does as well; with fraternal twins, that number drops to about 10 percent," explains Scott Myers, MD, a neurodevelopmental pediatrician at the Geisinger Medical Center, in Philadelphia. While experts caution there's no one "autism gene," researchers at the Mount Sinai School of Medicine, in New York City, recently screened more than 400 families that have members with autism and found that most shared a common genetic mutation. Children with autism also are more likely to come from families with anxiety or mood disorders, although researchers are still puzzled as to why.
Vaccines and Autism
One worry you can cross off your list: any possible association between vaccines and autism. "We've looked at several hundred thousand children all over the world and found no link between any type of vaccine and this disorder," stresses John Iskander, MD, a medical epidemiologist and pediatrician at the CDC. One recent review published last October analyzed more than 30 studies and found that the rate of autism among kids who received the MMR (measles-mumps-rubella) vaccine is no higher than in kids who never got the vaccine. After concerns arose in the 1990s that vaccines containing thimerosal (mercury) as a preservative could cause the disorder, it was removed (for the most part) from the market in 1999, despite the fact that study after study found no link between thimerosal and autism.
"It appears that the brain changes that lead to autism occur well before birth," explains Johnson. "When we've done autopsies of people with autism, we find abnormalities in areas of the brain that develop during the second trimester. There's no way that vaccines could cause any of these changes."
Why Early Detection Is Key
There is one thing all experts and autism advocates agree on: Early diagnosis is crucial. Research shows that the earlier in life ASD is identified and treated, the better your child's prognosis. A University of Wisconsin study published last November found that almost half of all 3-year-old children with autism who received intensive behavioral therapy for four years were able to enter regular education classrooms. Michael Morrier, PhD, assistant director of the Autism Center at Emory Medical Center, in Atlanta, found this to be the case at his center: "If we get children into therapy around 18 months to 2 years, 85 to 90 percent of them are able to enter a regular kindergarten classroom," says Morrier.
For years experts didn't pick up signs of autism until a child was 3, 4, or even 5 years old. "Now that's considered incredibly late in the game," says Donald Oswald, PhD, an autism researcher at Virginia Commonwealth University, in Richmond. While there are some early warning signs that should send you into your pediatrician's office, your child's doctor should do a developmental screening test every time you take your baby in for a well-child visit.
Trust Your Instincts
But while experts agree that starting treatment for autism at an early age is important, the process of actually diagnosing your child is often easier said than done (as illustrated by Gunn-Burghart's situation). Though doctors have the best of intentions, many aren't educated properly about developmental delays that could signal autism. This is why, experts say, if you have a nagging instinct that something isn't right, you should press your pediatrician, and, if necessary, seek a second opinion.
"Less than 30 percent of all healthcare providers screen children for developmental delays, so you shouldn't assume that if you don't say anything, your pediatrician is automatically doing this," says Nancy Wiseman, a mother of a child with ASD and president of First Signs, a public awareness campaign and training program that focuses on early detection of ASD. If your pediatrician refuses to have your child screened, find another physician. If your child is under the age of 3, schedule an appointment at a local state-funded Early Intervention Center, which provides a developmental assessment.
Hope for the Future
The gold standard for treatment of autism is applied behavior analysis (ABA), which works by rewarding children for appropriate behavior, such as playing with other children or requesting a specific object, explains Melissa Nishawala, MD, clinical director of Autism Spectrum Disorders Service at New York University Medical Center. Usually, tasks are broken down into short, simple steps; when the task is completed, a reward (such as a treat or praise) is offered to reinforce the behavior. Often, these therapies involve cooperative play with other children. Another exercise frequently used in conjunction with ABA is Floor Time, where a therapist or parents play with a child in a way that helps him connect emotionally and engage in back-and-forth communication, first with gestures and expressions, then by actions and words.
Unfortunately, all these therapies come with a staggering price. While some parents are lucky enough to find that their health insurance covers many of these therapies, or they're financially able to cover it themselves, cost can still be a major issue.
A Small Miracle
Ultimately, however, parents say that as devastating as the diagnosis of autism seems initially, empowerment and hope come with treatment. "When Lennon was diagnosed, his doctors weren't sure if he would ever be able to talk," recalls Gunn-Burghart. "Two months later, his therapist was at our house, working with him in the playroom, when she suddenly screamed, 'Sharon, get in here!' I ran into the room to see my son pointing at a play tent and saying 'house, house.' For the first time in his life, he knew what he was saying. I started to cry. I couldn't believe it. Every day, I see my son making progress, whether it's speaking a full sentence or expressing the emotional sensitivity to run up and hug his twin Frannie when she falls and skins her knee. To me, that's nothing short of miraculous."
Dealing with the Diagnosis
If a therapy works, you'll see results. If you don't, try another treatment.
Nancy Wiseman, mother of a child with autism and president of First Signs, Inc., offers these tips on how to help yourself so you can help your child:
Get online. You can find everything from national support organizations to loosely organized parent chat and e-mail groups. One good place to start: the database kept by the National Library of Medicine (nlm.nih.gov), where you can look up the latest medical studies.
Seek out other parents for support. You're dealing with so many new feelings, ones that your friends and relatives may not understand. Most advocacy groups maintain e-mail groups and chat rooms for parents, and local early-intervention or school programs may also offer support groups.
Find the best treatment for your child. Most treatment choices are fairly obvious: If your child has impaired speech, he'll need speech therapy; if he has motor delays, he'll need occupational therapy. But beyond that, things get complicated. When deciding between programs, don't just interview teachers and therapists, but ask to see other children receiving the therapy. "It's not just what methods they use, it's also their personal qualities," says Wiseman. The most important thing is to get your child started on therapy quickly: When something works, you'll see results. When, after a few months, it doesn't, don't hesitate to try something else.
Don't be afraid to fight for insurance. Many companies may balk at covering all your treatments. Make sure you have a case manager assigned to your child, suggests Wiseman, so you are dealing with the same person every time you call. Local support groups are another good way to network and get insider information: "I once had insurance that refused to cover almost anything, yet when I found out they were reimbursing another family with the exact same policy for most of their costs, I fought back and got coverage," says Wiseman. You should also find out if special health plans are available for children with disabilities in your state, and consider opening up a flexible spending account to allay costs.
Seek professional help for yourself. You may be so focused on your child that you are unable to deal with your own emotions, which could include anger, depression, and guilt. "Raising a child with autism can be a major stress -- you're emotionally drained, physically exhausted, and financially strained -- all a recipe for a total meltdown," says Wiseman. In fact, a recent study at the University of California, San Francisco, looked at moms of children with autism and cerebral palsy and found that those who were the most stressed were indeed aging faster than their peers! Don't be afraid to take care of yourself too.
Check out these sites to get autism information, locate experts near you, and connect with other parents via these Web sites' support groups:
American Academy of Pediatrics - www.aap.org
Autism Research Institute - www.autismwebsite.com
Autism Society of America - www.autism-society.org
Autism Speaks - www.autismspeaks.org
Centers for Disease Control and Prevention - www.cdc.gov/actearly
Cure Autism Now- www.canfoundation.org
First Signs, Inc. - www.firstsigns.org
REACT Foundation - www.reactfoundation.org
Hallie Levine Sklar is a freelance health and fitness writer who lives in New York City with her husband, Jamie.
Originally published in American Baby magazine, November 2006.
All content here, including advice from doctors and other health professionals, should be considered as opinion only. Always seek the direct advice of your own doctor in connection with any questions or issues you may have regarding your own health or the health of others.