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Amy Markoff Johnson

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Our Journey to an Autism Diagnosis

Posted: 04/26/2012 2:27 pm

Some parents have baby books documenting the early years of their children's lives. My husband and I have manila file folders with labels like "Developmental Delays: Tests and Evaluations," "Speech Therapy Research" and "Early Intervention IFSP." These were the keepsakes we carefully preserved, our own special needs version of bronzed baby shoes: enough medical evaluations, referrals, notes and diagnostic information to fill half a file drawer. But rather than encasing the memory of a baby's first faltering steps, they are the record of a two-year-long journey stumbling toward an autism diagnosis.

Near the front of the drawer, in a folder labeled "Developmental Delays: Notes," is a sheet of paper with a list of words printed in black ballpoint pen: Cookie (ka), Stick (ka), Fish (ka), Car (ka), Dark (ka), Light (ka), Bunny (buh), Book (buh), Banana (buh)... The list of words goes on, a handful of mysterious single-syllables in parentheses next to each one. These are the words my son could say when we first began to worry enough to start taking notes, along with his pronunciation of each.

The list marks the first step in our journey -- the first step in any journey toward a diagnosis --recognizing that something is different, unexpected. The job of determining the severity and impact of that difference fell to our pediatrician. We raised concerns about our son's speech at his 18-month visit. She responded with the diagnosis of "nervous first-time parents," and cheerfully quoted the statistic: "By age two, two-thirds of what a typical child says should be intelligible to the average adult." Her advice was to wait for six more months, until that magical age of two, by which time things would presumably have sorted themselves out. We spent those six months watching for progress and failing to see it.

We noticed instead that the little handful of syllables our son did use weren't being used to communicate. His speech formed an echo of the words around him. Questions would come bouncing back to us as questions. "You" remained "you" instead of becoming "I." Pages of books we'd read to him would be repeated, accurately and out of context. I learned that the term for this was "echolalia," and dutifully added it to our notes. And over time, I added notes about the other places where his path diverged from the children around him: his lack of gestures, his attachment to objects, his hypersensitivity to noises and textures, his rigidity around routine, his problems with sleep, his dietary issues.

By the time those six months were up, we had our first two referrals: one to an audiologist to rule out hearing loss as a cause of speech delay and the second to a team of specialists, including a psychologist, speech therapist and occupational therapist, for evaluation.

The audiologist quickly determined that our son's hearing was "within normal limits," but the other evaluations of our son's development weren't as simple or painless. Our collection of file folders grew as we spent hours answering questions and filling out assessment forms designed to capture and quantify our son's every weakness. The therapists and child development specialists added the forms they filled out to the ones we'd completed and gave us still more forms to pass on to preschool teachers and other caregivers.

Then they ran our son through a battery of intelligence, language and social skills tests unlike any my husband or I had ever faced in school, tests designed to determine not the strength of his knowledge, but the degree of his deficits. Could he roll a ball back and forth? Did he look at people who were talking to him? Would he point to a picture of an egg?

I hated those evaluations. I got angry about them. My husband and I snapped at each other over them. I cried as I filled out each questionnaire. I cursed the names of the doctors that created them. Each check in a box felt like a failure, each rating like a betrayal, as if I were complicit in reducing my son -- this beautiful, radiant, unique little being whom I loved with all my heart -- to a widget in some giant developmental quality control inspection.

The assessment forms took on the appearance of tiny constellations as I left dozens of little asterisks scattered next to my answers, each marking a note attempting to minimize my grudging admissions of my son's deficits. The forms are peppered with these little notes in my handwriting saying we all get cranky when we're hungry or tired or sick. Or that I like being alone sometimes too. Or that he's just a little kid for crying out loud. Little notes that mean, "This is my son and I love him, no matter how he measures up and no matter what you think he can't do." Because I knew -- secretly, deep down knew -- that those tests were going to find something I did not want to hear. They were going to tell me that his development was delayed, that his differences were disabling. And oh, how I wanted to protect him from that.

A year after we had voiced our first concerns to our pediatrician, we sat down to face a conference table filled with therapists trying their best to calmly and cheerfully deliver the news that they'd put our beloved child's behavior, skills and personality under a microscope, measured them and found him lacking. Delay in receptive language skills: 28%. Delay in expressive language abilities: 40%. Delay in personal-social skills: 28%. Delay in adaptive skills: 44%. And the word "autism" was voiced, hesitantly, for the first time. This wasn't a diagnosis, not yet. The official diagnosis at that point was a speech delay severe enough to qualify for treatment. But they all thought our son fit the criteria for autism, that it would come up again, and that we should be prepared.

And it did come up, again and again. From other specialists conducting other evaluations. And from our pediatrician, who told us our son fit the criteria for autism but recommended waiting to consult a specialist until after age three, when a reliable diagnosis would be easier. In the meantime, we were advised to focus on speech therapy and enroll our son in preschool to foster his social skills.

Six months of therapy later, our son's speech had improved dramatically, but his other delays and atypical behaviors remained. These were concerning enough to warrant a referral to a neurologist, where we built up our final folder filled with tests and results: an EEG to check for petit-mal seizures, an MRI to look for tumors or other physical problems in the brain that could result in autism-like behaviors, and dozens of different blood and urine tests to check for Fragile X syndrome, chromosomal and hormonal abnormalities, problems with organ function, and other known causes for communication and social skill delays.

Just before my son's fourth birthday, we had our followup visit with the neurologist. In a little more than two years we'd been to see dozens of different medical and child development specialists and generated hundreds of pages of paper, as well as countless tears and plenty of trauma, for our son and for ourselves. We'd confirmed that there was a developmental delay affecting communication, social skills and self-help skills and that there were sensory issues and obsessive behaviors. We'd ruled out hearing loss, seizures, tumors, Fragile X and all known chromosomal abnormalities. We knew there was nothing unusual in our son's urine or blood chemistry. We had eliminated all possible answers until we were left with just the one, on the piece of paper the neurologist handed us to close out our files on the diagnostic process: autism.

The specifics of any individual family's diagnosis story may differ, but every individual with an autism diagnosis has gone through some version of this process. Until researchers working to find biomarkers in the blood, chemicals in the urine or characteristic brain differences create a simple and reliable test for identifying autism, we continue to rely on professional observation and testing based on the behavioral criteria listed in the Diagnostic and Statistical Manual of Mental Disorders, combined with medical tests to rule out other conditions.

There is nothing pleasant about going through this diagnostic process. It is expensive. It is time consuming. It is draining. It is painful for the parent and for the child. When I run my thumb over the tabs of all those file folders, the scent of post-traumatic stress wafts up off of them like a layer of dust disturbed by the motion.

Fortunately, the process itself was the worst of it. Holding that diagnosis in my hand at the end of that miserable, grueling two years, I felt relief, closure and yes, hope. We'd come to see how much our son was struggling, especially since the birth of his younger sister, who took to this world as effortlessly as a fish gliding through the water. We had come to accept that our son needed more help and support than we could give him alone.

And we'd come to see that this diagnosis wasn't a death sentence, or even a life sentence. It was an arrow pointing in the direction of understanding, of community, of information, and of resources to help individuals and families who need it. That autism diagnosis would show us how to help our child function better in a world that is not designed to accommodate the way his brain and body work. It would help us teach the world how to meet him halfway. We could close the file drawer, set our bronze baby shoes on a shelf and start the next journey.

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