Nancy Chernus-Mansfield ianet and Marc thought their life was as close to perfection as any family's life could be. Married for 8 years, they had one daughter, Missy, age 5, and Brian, age 3 months, their long-awaited son. At Brian's 3-month routine well-baby checkup, the pediatrician remarked that Brian might have strabismus because his eyes appeared to turn in and weren't "working together," as Janet later described it. The pediatrician was very reassuring, however, and told Marc and Janet that he would like the baby to be examined by a pediatric ophthalmologist "just to be on the safe side." Marc had recently started a new and more responsible job so it was decided that Janet would take Brian for the eye examination herself, to minimize the amount of time Marc was away from the office.
Thursday, July 14, began like many others for Janet. She got Missy off to kindergarten, kissed Marc goodbye, and packed up for the day's outing, an eye doctor's appointment. Preparing a 3-month-old to meet a new doctor was a challenge for Janet. She wanted Brian not only to look his best but to be his most alert and charming self.
When Janet arrived for the appointment, everything seemed easy enough. She filled out the routine medical information and was brought into the examining room. The doctor came in, introduced himself, and asked Janet some questions about Brian's development and about the pregnancy. As Brian was being examined, Janet began to feel twinges of anxiety. Brian was screaming. For the doctor to get a good look at his eyes, he explained to Janet that he would have to put a speculum in Brian's eyes to keep them open and in position. Unprepared for the papoose board they placed him on, or for the torturous-
looking instrument the doctor used, Janet was becoming extremely upset. Finally the examination was complete, or so Janet thought. The doctor said he couldn't give a diagnosis, however, without some additional tests. Janet didn't understand. Why would crossed eyes require additional tests? The doctor would not comment. He told Janet he wanted more information and would arrange for her to go across the street to a facility that could do the tests. Quickly, Janet called her neighbor to make arrangements for Missy to be picked up from kindergarten. Although she was feeling upset by the morning's examination, Janet thought it best not to call and alarm Marc because she thought the doctor was probably just being thorough.
Janet took Brian across the street to the laboratory where they did electrophysiological tests. Fortunately, Brian had fallen asleep and the flashing lights and electrodes did not seem to bother him. The person who did the tests did not give Janet any information. He told her to return to her physician's office.
When Janet entered the doctor's office this time, she was feeling very apprehensive. She was ushered into the doctor's office, instead of an examining room. After about 15 long minutes, the doctor appeared. He sat down behind his desk, took out Brian's chart, and began to speak. From what Janet can remember, he said something like this: "The test confirmed what I have suspected. Your baby has a condition known as Leber's congenital amaurosis. This condition affects the optic nerves and, from my experience, I believe he is totally blind. There is no treatment. I am sorry. I wish you and your family the best of luck."
Janet can't remember what happened after that. She has no memory of her drive home, of picking up Missy, or of calling Marc. What she does remember is feeling that her life, Brian's life, Marc's life, and Missy's life were over. Nothing would ever be the same again.
Thursdays were busy days for Jack Smith, M.D. He had private patients in the morning and clinic patients all afternoon. At 38, he had achieved his dream of becoming a successful pediatric ophthalmologist. He had always had an interest in ophthalmology but, after his pediatric rotation, he decided that pediatric ophthalmology was a truly exciting field. Jack felt lucky that his wife of 12 years was always supportive of him and that all three of his children, Jack Jr., 10, Jennifer, 8, and Jason, 6, seemed happy and were proud of their dad. He enjoyed the challenge of his work in his private office as well as his research and teaching at the medical school. He had developed a particular interest in treating strabismus and had become the leading specialist in his area.
After arriving at his office, Jack surveyed his schedule and buzzed Karen, his "right arm," to send in the first patient. As he entered the examining room he saw Janet, an attractive thirtyish woman, gazing lovingly at her infant. Jack suspected that the baby had strabismus. The call from the pediatrician was brief, and indicated nothing out of the ordinary. Jack introduced himself and began the examination. Almost immediately he could feel a knot beginning in his stomach as he noted the presence of a nystagmus. By the time the baby was papoosed and the speculum was in place, he was really concerned. He thought, "Maybe it won't be as bad as I think it is; wait for the ERG." He would feel his discomfort build as he told Janet he wanted some additional tests. "No need to alarm her at this point," he thought. So he sent Janet across the street and proceeded to see the many other children waiting for their examinations.
At 11:45 A.M., the call came from the electrophysiology lab. Jack's suspicions were confirmed: Leber's—a totally blind baby. In 45 minutes he would be face-to-face with Janet. This was the only part of his practice he dreaded—giving bad news. What should he tell her? He wished he knew. "Does anyone?" he wondered. "I will just give her the facts. There's no way to sugarcoat this," he thought. Nothing had prepared him to break people's hearts.
Jack doesn't remember the details of Janet's reaction. He knew, of course, that she was extremely upset. Primarily, though, he felt overwhelming helplessness. None of his hard-won expertise could fix this baby; no patching, no surgery, no nothing. All Jack could do was hope that this family had the strength to cope with the diagnosis. The thought came, "If it was one of my kids, what would I do?" He dismissed that thought quickly. It was too painful. "I'm getting morbid; probably most of the kids do great, and their parents can handle their problems." At least Jack wanted to think so. He loved being a pediatric ophthalmologist because he could really help kids. It was so satisfying to see a child who had amblyopia, for example, and to know that with patching the child's vision would be assured. He didn't really know that much about what happened to the few blind children he had encountered. They seemed okay, but, Jack thought, to be fully honest, they were the patients with whom he spent the least time. There was, after all, nothing he could do for them.
Yet that day he couldn't shake the feeling of discomfort as he continued to see patients. His mind kept returning to Janet and the pain on her face. What would life be like for her and for her family? Janet seemed shocked when she heard the diagnosis, but she was very quiet. She hadn't said very much or even asked any questions other than, "Are you sure there is nothing that can be done?" He had said "No." Maybe, he thought in retrospect, just saying "no" was too brusque. He hated to admit there was nothing more he could do and that he was unable to offer further hope. Maybe he should have said more. Is there something else he could have done for her? He just didn't know.
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