Opinion

Family member’s undiagnosed illness gives physician new patient perspective

On a warm summer evening last year, a close family member called to tell me they had been feeling unwell, with constant nausea, occasional vomiting and low appetite. Over the following weeks, the nausea worsened, their appetite all but disappeared and they began losing weight.

As a physician, I know that unintentional weight loss is a “red flag.” Given the prolonged symptoms, and my concern of a serious underlying condition, I suggested they see their family physician, who, after initial testing, provided a referral to a gastroenterologist.

This was the first time a family member had a prolonged illness since I had graduated from medical school. I frequently reminded myself that the most likely causes of these symptoms were self-limited or treatable illnesses. However, it is human nature to brood over worst-case scenarios in times of uncertainty, and this was no exception. Despite being a medical professional, I felt humbled, disempowered and ashamed that there wasn’t more I could do during the weeks of waiting between appointments, tests and results. The thorough investigations did not reveal a cause for the symptoms. The nausea persisted, and my family member continued to feel unwell, leading to missed work, ER visits and medical appointments.

I went over the test results myself and was relieved at the absence of any sign of a dangerous pathology. I tried to encourage my family member that the test results so far had all been reassuring, words I had used with patients countless times, words I had thought of as comforting. “That’s all well and good,” my family member responded, “but I still feel terrible. How am I supposed to live my life like this?”

As physicians, we are taught to employ a step-wise approach to investigating new symptoms, ruling out common or easily treatable diagnoses and monitoring the evolution of symptoms over time. If symptoms improve, we often simply encourage patients to return to their usual activities while keeping an eye out for any worsening, whereas persistent symptoms will prompt second- or third-line testing and referrals to other specialists.

In practice, this typically takes the form of a unilateral focus on testing, without addressing symptoms until either a diagnosis is made or common and serious illnesses have been ruled out. This approach is justified under the guise that treatments to improve symptoms while investigations are underway may cloud the natural progression of the symptoms or render the results of subsequent tests unreliable.

The decision not to treat symptoms is often made automatically as we put into practice the patterns of care we saw during our training, without considering our patients’ lived experiences. We encase their suffering and relegate it to distant corners of our minds, not to be re-explored until we see the patient again, compressing the long weeks of illness between appointments into a few minutes of empathy. The negative impact this carries for our patients’ quality of life goes unconsidered.

Those short minutes that I experience as a health-care provider expanded into endless days and nights of discomfort as my loved one lived their illness. Finally, after months of inconclusive tests, their providers began to focus on symptom management, prescribing medications to reduce nausea.

Slowly, over the ensuing weeks, nausea ebbed and appetite improved, marred by spurts of severe symptoms lasting hours to days. Each time the nausea became more prominent, my family member worried that the illness would return, perhaps worse than before, and I shared in their anxiety, the knot in my stomach only loosening once I heard they were improving again.

After several weeks of treatment, the medications were gradually tapered. Five months after the sudden appearance of the nausea, my family member’s health returned, with only a few intense food aversions left as echoes of the mysterious illness.

A few weeks later, I saw a patient in clinic who had been referred for a variety of symptoms that had been present for over a year – fatigue, muscle aches and mental fog. She had seen a multitude of specialists, undergone an array of tests (some of them multiple times), with no significant abnormalities found.

Although she had been successfully self-employed, severe and unpredictable fluctuation in her symptoms forced her to stop working. Specialists had told her they suspected a prolonged post-viral illness and that she may improve with time. However, none had discussed any management strategies for her symptoms beyond advising use of over-the-counter medications for muscle aches. The inability to land on a clear diagnosis can be disappointing and can lead to health-care providers questioning a patient’s symptoms. Providers may even become more hesitant to discuss treatment options if they mistrust the patient’s reported experience.

My recent personal experience taught me a different approach.

Instead of focusing on unearthing a missed esoteric diagnosis, I explained that repeating extensive tests was unlikely to yield a diagnosis and asked if we could spend time exploring her symptoms and strategies to address them. She was initially hesitant to abandon further testing and accept the lack of clear diagnosis, but we agreed to repeat a limited work-up while focusing on symptom management from the start. We met again several times over the next few months, each appointment driven by her lived experience and framed around improving her quality of life. Though we have not found a definitive diagnosis yet, she has had some improvement in her symptoms.

After accompanying my family member through the course of their illness, I have a newfound appreciation of the profound impact a provider can have by addressing suffering early in a patient’s illness.

Rather than worry over the lack of diagnostic clarity and the frustration that ensues for both provider and patient, I hope that I can help my patients recover better and earlier going forward.

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2 Comments
  • Kirstin Veugelers says:

    OMG. I feel so seen by your response to your family member’s experience. Your article evokes a lot of emotions for me.
    Though my symptoms differed, I experienced that journey. Sadly, in the end, even after no diagnosis was gained, I found that doctors wouldn’t even support the lifestyle changes I found helpful to manage symptoms and improve my energy, because they were concerned about negative repercussions when my lifestyle modifications went against standard health advice – advice that may be generally well reasoned, but only can be applied to an “average” individual, in my opinion. So even after everyone had shrugged their shoulders, I still didn’t feel seen or respected for my lived experience. I truly felt that I had to find my own way, making the journey lonely and isolating.
    What you have clarified for me so beautifully is that life doesn’t have to – and shouldn’t – be put on hold during the investigation stage. I now advocate for patients facing challenging health journeys, and your article crystalizes for me how I can intentionally work to improve their quality of life from the beginning of our engagement. I would say that I often intuitively do this, but it is so valuable to intentionally add this to my process of supporting patients.
    Thank you!

  • Nancy L says:

    I see from your article you have found a way to provide health care to patients who have no clear diagnosis while still going through more tests. Keeping the patients from going into depression, and constant worry by helping them adjust their usual activity, eating habit, or schedule to deal with the troubles they are having with their health. Though the patients needs more tests you maintain their quality of health through communication of possible changes.

Author

Jeremy Cygler

Contributor

Jeremy Cygler is a general internal medicine fellow at the University of Toronto. His areas of interest include health equity, addictions medicine and the intersection of medicine and social justice.

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