Healthcare providers are trained to make a diagnosis to guide the course of evaluation and treatment of physical and mental health conditions. A diagnosis can help healthcare providers rapidly decide regarding appropriate courses of therapy, ideally based on scientific evidence for specific therapies. Additionally, a diagnosis allows for classification of the patient, including for insurance billing purposes and provisions of appropriate non-medical services such as individualized educational plans (I.E.P.) at schools, housing and workplace accommodations, and availability of emotional support animals.
However, it is worth being mindful of ways that making a diagnosis can be harmful in the treatment of a patient and addressing these issues as soon as they arise.
When a diagnosis is made, health care providers often focus mostly on providing therapy for the diagnosis. When a patient fails to respond completely to therapy, the providers’ usual assumption is either that the patient did not follow well the prescribed treatment plan (e.g., did not adhere to the prescribed medication schedule, or follow the instructions regarding a behavioral intervention), or that the treatment plan was insufficient (e.g., the patient requires a higher dose of the medication, or intensification of the behavioral intervention.) These assumptions too often are wrong.
Two cases from my career as a pediatric pulmonologist illustrate this kind of locked-in thinking:
A 9-year-old boy with asthma. This patient presented with recurrent cough, wheezing, and shortness of breath that improved temporarily with asthma inhaler rescue therapy. His breathing test demonstrated asthma. Nonetheless, he continued to have frequent breathing symptoms despite intensive preventive asthma therapy. The health care provider thought it was obvious the patient must not have been taking his preventive medications because they are known to work in the treatment of asthma.
It turned out that most of this patient’s symptoms were related to his anxiety, and they largely resolved after he was instructed in how to regulate his emotions through use of hypnosis. In this case the diagnosis was incomplete. The patient had asthma and anxiety, and treatment of asthma alone was insufficient.
A 17-year-old with cystic fibrosis (CF). This young man was diagnosed as having CF based on a sweat test during infancy (which is diagnostic of this medical condition.) He was treated at a CF Center for his whole life. His lungs remained healthy, but he was resistant to receiving chest physiotherapy by hand or with a mechanical chest vibration device, which is necessary to prevent progression of lung disease in this fatal condition. Therefore, he was treated with valium before each physiotherapy session.
When this patient was referred to me, I noted that his diagnosis of CF was made based on a single sweat test. Given the serious implications of such a diagnosis, my practice has always been to repeat the diagnostic test, as errors in testing do occur on rare occasions. It turned out that he did not have CF, as this patient was misdiagnosed to start with. Had his physicians reconsidered his diagnosis given that he never showed evidence of progressive lung disease he would have been spared many years of unnecessary and disruptive therapy.
Health care providers sometimes inadvertently lead to their patients’ perpetuation of their symptoms or behavior because of a diagnosis. Again, some examples demonstrate how such situations can occur.
A 15-year-old with recurrent pneumonia. The patient presented with a history of 3 episodes of pneumonia a year for a few years. With each of these illnesses the patient would miss a month of school. Upon review of his history, physical exam, and laboratory studies I could find nothing physically wrong with him other than mild asthma for which he was being overtreated. I did note that the patient was anxious. As a pulmonologist I also was aware that oftentimes asthma flare-ups can cause x-ray findings that are mis-read as pneumonia.
I treated the patient by decreasing his asthma therapy and teaching him self-hypnosis. He developed no further pneumonia. In subsequent years he developed colds a few times, which caused him to be sick for a couple of days. Given his improvement with hypnosis, I suspected that the reason he felt so sick when he was diagnosed with pneumonia was his belief that he was sick with serious illnesses.
A 50-year-old with hypercholesterolemia. For years I had an elevated cholesterol level and was told by my physician that since my mother had the same issue I suffered from a genetic condition: familial hypercholesterolemia, which placed me at a higher risk of developing a heart attack or stroke. I accepted this diagnosis and felt that as it was genetic, I could do nothing about it.
When I later lost a lot of weight in order to resolve my type II diabetes, my cholesterol level became normal. I had not realized that while my genes might have predisposed me to have a high cholesterol level, this did not mean that I could prevent it from causing difficulties by resolving my obesity.
A 12-year-old with autism. This boy came to see me because of his disruptive behavior because of autism. He was highly intelligent but because of his behavior he had been expelled from his school and sent to a school specializing in education for behaviorally challenged children. Unfortunately, at that school most of the other students were intellectually challenged, and therefore the academic environment provided was inappropriate for him.
I taught this patient to regulate his behavior with hypnotic techniques. I strongly encouraged the family to find him a mainstream school where he would be given services to help support his occasional autism-related outbursts. Seven years later this former patient came to my office to thank me for encouraging his family to change his school and to help him deal with his autism, rather than allowing the autism diagnosis to dictate the type of education he would receive. The patient told me that he had matriculated at a prestigious university and was a pre-law student.
As these cases illustrate, treating patients based on their diagnosis alone can sometimes be ineffectual or even harmful. In today’s world patients are often afforded precious little time with their healthcare providers. Nonetheless, I believe that healthcare providers must take time to be cognizant of the difficulties that can be caused by making a diagnosis. Furthermore, I believe best healthcare practice occurs when both the clinicians and patients focus significant amount of attention on all of their patients’ symptoms and responses to therapy, rather than mainly focusing on treating a diagnosis.
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