Real illness, wrong diagnosis

By Dr. Batya Ludman · Published November 20, 2015

People are often referred to my office because of complaints such as constant joint pain, debilitating fatigue, chronic gastrointestinal discomfort, sleep disturbances, “brain fog,” or a vague feeling of unwellness. Their doctors have found nothing unusual in their examination and all laboratory tests have come back normal. These patients and their physicians are frustrated by the lack of a definitive diagnosis.

Not fitting neatly into any diagnostic category, it is presumed that their problems have a largely psychosomatic component – are “all in their mind,” perhaps as a result of stress, anxiety or depression. Sadly, such patients have often been misdiagnosed, not taken seriously, and mislabeled, despite multiple visits to various doctors over many years. They may be perceived as malingering or hypochondriacal. For many, the symptoms are severely disabling, leaving them unable to study, work, sleep, do household activities or function outside their home. Relationships suffer; they may be isolated, have financial issues and appear depressed and anxious; they often feel helpless, hopeless and very unwell.

The pain and suffering of these patients is very real; medicine simply does not yet have a good explanation for what’s going on. Rather than hearing the patient and validating their concerns, doctors give what is meant to be reassurance that “all is okay” when the patients don’t feel okay at all. There are many known diseases clearly associated with chronic pain that have no physical findings for the doctor to see, and so the degree of pain the patient experiences is unappreciated. While it seems that there is indeed a biological basis for their unwellness, often medical knowledge is not yet sufficient to give these often vague and non-specific symptoms a consistent, agreed-upon diagnosis – and perhaps more importantly, an effective treatment plan.

As with many other diagnoses, when we cannot actually “see” evidence of the pain (redness or swelling, for example), the first essential step is acknowledging that it exists, and that their broad array of symptoms may be suggestive of one of a number of different specific diagnoses. For many patients who have endured multiple physician visits over many years, to finally have their cluster of symptoms recognized as being suggestive of a specific diagnosis – legitimized rather than trivialized – is a major breakthrough and is in itself a first step in providing reassurance, validation and acknowledgment that they are not crazy.

Typically the psychological features of the patient’s “invisible illness” are the result of, and not the cause of, their other symptoms. Having worked in a rheumatology clinic for several years, I am aware of how a delayed diagnosis often leads to anxiety, anger, and frustration, which frequently results in years of deep sadness and mental anguish for the entire family, all the while being told that nothing physical is wrong with the patient. That we don’t see abnormalities or understand the underlying mechanisms of disorders like chronic fatigue syndrome, fibromyalgia, chronic pelvic pain syndrome or irritable bowel syndrome does not mean these are not real diseases with real symptoms.

The next step is providing psycho-education through a good, honest explanation as to what is and what is not understood about the underlying problem: what is going on in the body and how the body reacts to pain and physical or emotional stress. This enables the patient to better understand the approach to management, helps validate their concerns and establish trust, and encourages active participation in their own care. An empathetic professional who acknowledges their suffering, takes the time to listen respectfully and support the patient, while honestly acknowledging our limited understanding can make all the difference, even when the ability to “do something” is limited. The professional must understand the nature of the symptoms and what they mean for the patient. In getting a good history of the problem, it is important to be aware of what makes one feel better or worse, in what way the symptoms worsen, what, if anything, happened before the onset of the symptoms, and when (time of day or night, day of week or month) things seem better or worse. I often have my patients chart this and use a rating scale to more easily identify potential patterns and monitor changes.

The final step, accompanying medical interventions, involves teaching adaptive coping strategies to help people feel stronger, feel good about themselves, reduce day-to-day stress, and enjoy an acceptable quality of life in spite of their chronic pain. For patients dealing with serious sleep issues, teaching effective relaxation strategies and good sleep hygiene is essential. Cognitive behavior therapy can help patients to problem solve and better deal with the thoughts and feelings associated with the illness. Biofeedback and somatic techniques help clients deal with such symptoms as joint pain, gastrointestinal discomfort, and headache. Supportive psychotherapy can help one better manage the emotional aspects of chronic pain, enabling a person to become more assertive, physically active and experience a sense of greater control. This enables one to move beyond the frustration, despair, helplessness, anxiety and depression that so commonly accompany fatigue, decreased energy, or simply living with a chronic illness.

Treatment should be goal-oriented and solution-focused. It may include one’s partner or family members, as they, too, are deeply affected by what is going on. Having a patient be an active participant enhances their awareness and acceptance of what they can and cannot change, enables them to have more realistic expectations and allows them to better use their strengths to move forward in their own healing process. This model of growth and strength results in enhanced patient well-being, better pain management, greater resilience and an overall feeling of hope for the future.

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