6 Cases in Which Patients Improved Despite Their Initial Diagnosis

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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 on appropriate therapy courses based on scientific evidence for specific therapies. Additionally, a diagnosis allows for classification of the patient, including for insurance billing purposes and provision of appropriate non-medical services such as individualized educational plans (IEP) at schools, housing and workplace accommodations, and availability of emotional support animals.

Locked-In Thinking by Healthcare Providers

When a diagnosis is made, healthcare providers often focus on providing therapy for the diagnosis. When a patient fails to respond completely to treatment, the providers’ usual assumption is either that the patient did not carefully follow the prescribed treatment plan or that the treatment plan was insufficient (e.g., the patient requires a higher dose of prescribed medication or intensification of behavioral intervention.) These assumptions, too often, are wrong.

Three cases from my medical practice as a pediatric pulmonologist illustrate this kind of locked-in thinking. It should be noted that I encountered such situations monthly throughout my nearly 40-year career.

A nine-year-old with asthma. This patient presented with recurrent cough, wheezing, and shortness of breath that improved temporarily with asthma inhaler rescue therapy. Her breathing test demonstrated asthma. Despite intensive preventive asthma therapy, she continued to have frequent breathing symptoms.

Her healthcare provider thought it was obvious the patient must not have taken her preventive medications because they are known to work well in treating asthma. Therefore, the provider kept pushing the patient to take the prescribed medicines for two years.

It turned out that most of this patient’s symptoms were related to her anxiety, which largely resolved after she was instructed on how to regulate her emotions through hypnosis. In this case, the diagnosis was incomplete. The patient had asthma and anxiety, and treatment of asthma alone was insufficient.

A 14-year-old with shortness of breath. This young lady was diagnosed with asthma when she developed shortness of breath with exercise at four. She had no other symptoms of asthma. She never developed cough, wheeze, or shortness of breath with colds or when she was exposed to cats or dogs, to which she was known to be allergic. (She did develop a stuffy nose and itchy eyes around furry animals.)

Her physical examination was normal. Her breathing test was normal. Nonetheless, an asthma specialist prescribed an inhaled steroid on and off for 10 years to treat asthma. The patient said she was unsure whether this medication helped.

During the year before I met her, this patient's shortness of breath worsened while she was competing as a dancer. When I asked, she told me that her difficulties with breathing occurred when she tried to inhale and that when this happened, she made a loud sound (stridor) during inhalation.

Her symptoms were consistent with a diagnosis of vocal cord dysfunction rather than asthma. She fit the typical profile of a patient with this diagnosis, including that she was a high-achieving (straight A) female athlete. Her symptoms resolved immediately after being taught to use self-hypnosis to calm herself.

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 and was the way CF was diagnosed before the advent of genetic testing in the early 2000s.) 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 the progression of lung disease in this fatal condition. Therefore, he was treated with twice daily valium before each physiotherapy session.

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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 and that this patient had been misdiagnosed.

Had his physicians reconsidered his diagnosis, given that he never showed evidence of progressive lung disease characteristic of CF in those days, he would have been spared many years of unnecessary and disruptive therapy.

Locked-In Thinking by Patients

Healthcare providers sometimes inadvertently lead to 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 three episodes of pneumonia a year for a few years. The patient would miss a month of school with each of these illnesses.

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 was aware that often asthma flare-ups could cause x-ray findings that are misread 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 few days. Given his improvement with hypnosis-associated calming, I suspected he felt so sick when he was diagnosed with pneumonia because he believed he was sick with serious illnesses.

A 50-year-old with hypercholesterolemia and diabetes. For years I had an elevated cholesterol level. My physician told me that since my mother had the same issue, I suffered from a genetic condition: hypercholesterolemia, which placed me at a higher risk of developing a heart attack or stroke. I accepted this diagnosis and felt I could do nothing about it as it was genetic. Therefore, I agreed to start therapy with a statin, which is an oral medication that reduces cholesterol levels. However, I did not change my lifestyle.

When I was diagnosed with type II diabetes, my physician almost locked me into that diagnosis as well, as he proposed to treat me aggressively with insulin and regularly monitored my diet, kidney function, and eyesight. As an aside, he told me that if I lost a significant amount of weight I might be able to reverse my diabetes. He expressed that he did not think this was likely to occur. I took that as a challenge to do something about my medical condition.

When I later lost a lot of weight, that did resolve my diabetes, my cholesterol level also became normal, and I no longer required statin therapy. I had not realized that while my genes might have predisposed me to develop diabetes and a high cholesterol level, I did have the ability to prevent these genetic predispositions from causing difficulties by resolving my obesity.

A 13-year-old with attention deficit hyperactivity disorder (ADHD). After I added counseling to my practice, this patient came to see me to address his disruptive behavior related to his ADHD. He was unable to tolerate medications for his condition because these caused him to develop significant side effects.

This patient was highly intelligent and became easily bored in school. As a result, his behavior there worsened. When his parents and teachers discussed his impulsive behavior and lack of focus with him, he responded, "I can't do anything about that. That's because of my ADHD."

I explained to the patient that even though he was diagnosed with ADHD, he was capable of controlling his behavior. Fortunately, this patient proved very interested in helping himself and improved significantly once he learned to regulate his emotions effectively with hypnotic techniques. I encouraged the family to find him additional educational opportunities outside of school that would help better meet his intellectual abilities.

Takeaway

As these cases illustrate, treatment based on a patient’s diagnosis alone can sometimes be ineffectual. Further, a patient's reactions to a diagnosis or incomplete understanding of its implications also can lead to poorer outcomes.

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.

Best healthcare practice occurs when the clinicians and patients focus a significant amount of attention on all the patient's symptoms and responses to therapy rather than mainly focusing on treating a diagnosis.

Copyright Ran D. Anbar

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