Upon my arrival to the X Institute* to begin my month-long neurodevelopmental pediatrics rotation, I had a number of expectations. I expected to see a variety of rare neurodevelopmental conditions, diseases that I had only read about in textbooks. I expected to meet specialists from all over the country who had come here to pursue research and clinical work at arguably the finest institution to do so. I expected to become immersed in a fascinating, multidisciplinary field, and have the opportunity to witness expert clinicians and scientists engage with patients from all walks of life. Within my first few hours at the Institute, all of these expectations had been met. But on the second day here, I had a completely unexpected experience. I heard a seasoned, well-respected physician say to a family, “I don’t know.”
The patient seen in clinic that day had an interesting story, as most do. Although his development was atypical and his health concerns ranged from dietary-gastrointestinal to intellectual and behavioral, it was unclear exactly what the cause of these disturbances were. No specific diagnosis had been provided, and the child’s parents were unsettled by the lack of answers. They had seen specialist after specialist in search of an answer, which they hoped would lead them to a cure. On more than one occasion, they had resorted to the alternative and controversial so-called Defeat Autism Now or “DAN” doctors, despite not having an autism diagnosis. They had started their child on a strict, non-evidence based diet and had even administered daily intramuscular methyl-B12 injections. The family had come to the Institute from across the country in hopes that a specialist here would have the answer they were so desperately seeking. In the clinic, they asked about hyperbaric oxygen chambers, heavy metal chelation, and further diagnostic testing. However, that morning, it became clear that a specific cause and diagnosis would remain unknown, at least at present. I believe that with the patience and encouragement of the physician, this family was finally willing to begin accepting the lack of answers for their child’s condition.
This was a completely new experience for me: to observe a physician tell a family that perhaps it is time to stop pursuing diagnostic tests and living their lives around workups and treatments. Perhaps the answer that they’re looking for does not exist and may not exist for a long time. Perhaps the best thing for their child, at this point in time, is to simply be a child: to eat, play, go to school, be with his family, and spend time doing activities he enjoys. This poignant message is one that I will remember for the rest of my life. It reminds me of an interaction I had back in college, when I was a respite care provider for a 10 year-old with autism. His parents were both college professors, intelligent and well-educated folks. I was therefore shocked to learn that their child had no special interventions or therapies and could do what he wanted whenever we spent time together, even if that meant driving around in a car for hours for the sheer purpose of driving. At that point in my education and training, all of the children with autism I knew had packed daily schedules and strict diets, so meeting Matthew** was a stark contrast. His parents noted my concern and gently explained to me, “We’ve done all that, but we finally decided to let Matthew be Matthew.” Thinking of that moment now makes me smile. Now I understand.
*Name of institution withheld to protect patient confidentiality.
** Name has been changed to protect patient confidentiality.