Even in today’s world of medical breakthroughs, it isn’t unusual for a patient to present to their doctor with a set of symptoms that don’t neatly fit into a currently understood diagnosis. Sometimes, over time, a disease may declare itself. There is always relief when the patient’s illness can be named, for both the patient and the clinician.
Other times, a diagnosis does not emerge and a patient is left with a symptom list without a defining reason for their distress. Chronic fatigue, nausea, dizziness, and abdominal pain may be concerning and not improving: a list of debilitating issues without explanation.
There is a unique type of psychological stress when one’s physical pains are not understood. Naming a disease is anchoring. It provides access to a community, to specialists, and the ability to research potential treatments. Without a diagnosis, a patient may feel adrift, without medical support or a plan.
Some Relevant History
Historically, medicine and psychiatry have struggled to manage this type of medical moment. The fallback has been to consider the physical symptom a bodily manifestation of psychological distress
Years ago, certain personality traits were deemed a risk factor for inflammatory bowel disease (IBD); bad mothering was believed to cause schizophrenia and autism. All these theories have been thoroughly debunked.
For decades, chronic fatigue syndrome/ myalgic encephalomyelitis (CFS/ME) , an illness similar to long covid, was confidently considered to be a psychosomatic presentation of major depressive disorder. Patients with no energy or endurance were dismissed in medical circles, adding emotional trauma on top of their disabling physical symptoms. We now know that debilitating syndromes can emerge after a physical stressor, often a viral illness. Research in this area has expanded. Finally, new treatments are being discovered.
Medical Training Doesn’t Prepare Doctors for Chronic Uncertainty
While there are clinicians who stay closely involved with patients who have chronic symptoms that are a medical mystery, some disengage when a symptom cluster isn’t understood and treatments are elusive. How can we understand this phenomenon?
During medical training, identifying the answer to the patient’s problem is considered a marker of clinical excellence. Medical education does not prepare one for the psychological impact of patients who are difficult to categorize.
If “knowing” makes you a competent physician, does “not knowing” make you incompetent? Facing a feeling of helplessness and uncertainty (an experience the presenting patient feels as well), practitioners are at risk for minimizing distress. The patient who is having trouble getting to work each morning is educated about sleep hygiene or a healthy diet; it is good advice but it doesn’t recognize the profound disability at play.
Next, following historical precedent, the symptom constellation may be considered purely psychological in origin, i.e. “It’s all in your head”. It is true that physical illness is a risk factor for anxiety and depression. Yet, from my extensive experience as a clinician caring for patients with explained and unexplained pain, I have come to view all these conditions as existing in one’s head and one’s body. That, of course, is why we have a neck.
What Works
How should a patient approach this complex situation, if their symptoms defy diagnosis but continue to cause significant disability? The ideal, in my experience, is to create a team of engaged clinicians who stay curious and work to coordinate care.
Remaining Engaged
Some clinicians are more able to tolerate uncertainty than others, and it is worth searching for one who will listen carefully and follow up regularly. As the embedded psychiatrist within a tertiary care pediatric gastroenterology practice, I have a fair number of patients with complex presentations. Upon meeting them, I schedule meetings every 4-8 weeks for the next several months, recognizing the power of regular visits. I use my medical training to listen for symptoms that may have been overlooked—and could be clarified by the appropriate specialist . I provide executive functioning support and make sure the most recent treatment plans are implemented.
The commitment to ongoing contact communicates multiple messages even if I don’t have a new idea at every visit: I recognize you are suffering. I remain engaged and curious about your condition. Together we will keep looking for answers, but even if I don’t have one, I want to hear how you are doing. I am not giving up on you.
Time and attention are powerful interventions. After all, the patient’s presentation is a puzzle to be solved. Recurrent meetings encourage curiosity, a hallmark of good clinical care. New ideas may occur as the practitioner continues to read the latest literature and consult colleagues.
Coordinating Care
When one doctor doesn’t know how to intervene, coordinated care with all the patients’ specialists has a higher likelihood of being helpful; a mental health specialist should be part of the patient’s team. For this population, there is a risk of all-or-nothing thinking regarding psychological care. While conditions are not likely to be purely psychiatric, it is also a mistake to eliminate mental health care entirely. Chronic illness has a clear emotional impact and is a risk factor for depression. Anxiety can amplify pain.
In 2013, I co-authored a Case Record for the New England Journal of Medicine that illustrates the importance of treating the whole person when a patient presents with confusing symptoms. A 12-year-old girl with celiac disease reported vague medical symptoms (dizziness, stomachaches, and fatigue) with irritability and anxiety. She was referred to pediatric gastroenterology, neurology and psychiatry. Over time, her medical issues declared themselves, and she was found to have a rare chronic disease . The kicker was that she didn’t improve with treatment of her medical issues. It was only after her depression and anxiety were also fully addressed that her functioning improved. It’s an “and/both” clinical scenario, not an “either/or”
With engaged, curious, compassionate, coordinated care, the patient with unexplained physical symptoms is in the best position to find and obtain treatments that may provide some relief.