Haunted by an autism diagnosis: A sense of closure after 20 years

I believe most physicians have cases that haunt them, often patients whose treatment courses do not go ideally and who leave a mark on the physician, altering the way he or she practices ever after. When the physician is a surgeon, it might be a patient who died on the table. For a hematologist, it might be a patient with cancer who could not be cured. For a developmental pediatrician, it is likely a patient diagnosed with a developmental disability whose family vehemently disagreed with the diagnosis. Since the vast majority of developmental disabilities are lifelong in nature, when a child receives such a diagnosis, it is a life-altering event for the family. And such events do not always go well.

Last week, I came to work and among the charts in my mailbox I found one from the medical records department. Such charts appear periodically and require my review and signature in order for records to be released. The records had been requested for social services documentation. A sticky note was attached, noting that it was a very old case. I recognized the name right away. I looked through my original notes and the case came back to me in detail, just as I had remembered it all these years.

More than twenty years ago, when I was a brand-new fellow in neurodevelopment at the Children’s Evaluation and Rehabilitation Center, here at Albert Einstein College of Medicine, one of the first children I evaluated was a six-year-old boy. This boy was brought in by his parents—his father, a lawyer, and his mother, a social worker—for evaluation of his learning and behavior difficulties. To me he seemed bright, but I had to work hard to get his attention. His mind seemed to be elsewhere. He had poor eye contact and trouble having a conversation. No matter what we were talking about, he kept bringing the conversation back to the topic of dinosaurs, clearly his passion. And he was quite expert about that topic, with an impressive vocabulary.

Fast forward to two decades later. I am now the director of autism services at the Children’s Evaluation and Rehabilitation Center, but even back then I was interested in autism. While I knew that this boy did not have frank autism, it was clear to me that he had the flavor of autism, with its hallmark social and communication impairments and restricted interests. In our subsequent multidisciplinary team meeting, I remember making the case to clinicians far more experienced than I (all of whom are now either retired or deceased) that this boy had mild autism, or pervasive developmental disorder not otherwise specified. The other evaluators were ready to diagnose the child with language impairment and attention deficit hyperactivity disorder, but needed convincing about the mild autism. I persisted. In the end, the team leader said that I could present my opinion to the child’s mother and make my case to her.

It was my first parent conference ever. I had watched an experienced social worker give a series of diagnoses to a family and now—following the “see one, do one” model—it would be my turn. Things started off well. When I reviewed the cognitive and language data, the parents were attentive and the mother’s nods indicated that the information was consistent with her own thoughts about her son. When I moved on to discuss the constellation of behaviors that included poor eye contact, conversational weaknesses and restricted interests and suggested that they might be manifestations of mild autism, the mother vehemently stated her disagreement. She said that she “had seen autism and this was not it.”

The family never returned for the scheduled follow-up appointments. I had no information about what had become of the boy. But I thought of him over the years; he haunted me. I went on to develop a clinical and research passion for autism and to head the RELATE program for early diagnosis and treatment of autism here at Einstein. The field of autism changed in the background, with the concept of the spectrum of autism becoming widely accepted. But I wondered through the years if, in my clinical debut, I had jumped the diagnostic gun. Had I given these parents an incorrect diagnosis for their son—one with lifelong implications? The case haunted me as I wondered whatever became of the boy and his family.

I looked back at the old chart and the release of records form and found that there was another sticky note affixed to the record. It said that the patient was currently being seen on the adult unit, and those recent records were also attached. I excitedly flipped through the pages to find the new report. The record began: “The client is a 29-year-old male who reports that he was diagnosed with mild autism as a child, that he completed high school, went on to college but could not manage it and dropped out and has been unable to hold a job since due to social difficulties. He comes seeking treatment.” The report goes on to describe his poor eye contact, trouble with topic maintenance and trouble understanding the examiner’s perspective. It was clear, based on the recent evaluation and current attitudes and criteria, that the patient has an autism spectrum disorder.

From a selfish perspective, this follow-up—more than 20 years later—gave me a sense of closure. The long-ago diagnosis had been accepted, at least by the young man himself, and he continues to show signs of this generally lifelong diagnosis. But I ached to know the course his family had taken in accepting the diagnosis and what help he had received along the way. Could he have done better and succeeded in his education and work activities if he had received more specialized help, such as social skills training—readily available these days but hard to find in the 90s? I don’t think the case will haunt me in the same way it had. Maybe in some new ways, though, it will.

Lisa Shulman is a neurodevelopmental pediatrician and director, infant and toddler services, Children’s Evaluation and Rehabilitation Center (CERC), Albert Einstein College of Medicine. She blogs at The Doctor’s Tablet.

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  • 1themecca

    I only wish I had had a dr brave enough to say those words to us when my son was young, and struggling. “take him home and love him”, while not bad advice, does not maybe produce the most successful outcome, altho certainly necessary. I KNEW something was wrong, but over 30 years ago, these things were not addressed, unless you were in larger cities. I know we did the best for him that we could, used our own homegrown therapies, but I often think more should have been done by professionals willing to listen to us.