A serial about two artists with incurable neurological disease sharing fear, frustration and friendship as they push to complete the most rewarding creative work of their careers.
Read Episode Twenty: Submitting Our Stories...Again
Or, start at the beginning: An Illness's Introduction
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Over the course of two years, Hadley was diagnosed with the following conditions in this sequence: Parkinson's disease, possible multiple system atrophy, Parkinson's disease, primary lateral sclerosis, probable multiple system atrophy, possible functional movement disorder, upper motor neuron syndrome of undetermined etiology, and multiple system atrophy. These diagnoses didn't comprise an aggregate of multiple illnesses; rather, each ruled out a previous one. Hadley's movement disorders specialist, Dr. Youngman, diagnosed her with Parkinson's, then possible MSA and finally, denying parkinsonism altogether, he settled on upper motor neuron disease. It's significant that the first doctor to see Hadley at the Mayo Clinic in Rochester was also the last, because it demonstrates how the diagnostic process can become derailed. At their initial appointment, the doctor made the diagnosis of probable MSA but changed it to upper motor neuron syndrome after Hadley had been seen by the other Mayo specialists. Finally, in Houston, after studying the same health history and test results, Dr. Truitt diagnosed MSA.
For months at a time, Hadley had been stuck in a medical quagmire. How did this happen?
Research has shown that about 10% -20% of patients are given an incorrect diagnosis by their doctors. Ideally, algorithms or information used in making a diagnosis are objective and thinking is logical; when diseases and conditions are obvious, a doctor recognizes a familiar pattern of symptoms. In today's practice of evidence-based medicine, diagnoses are often made on the basis of statistics and data provided by advanced technologies. But when a patient's symptoms don't fit the usual pattern or tests are inconclusive, the reliance on algorithms and evidence will often constrain a doctor's thinking, making the diagnostic process vulnerable to error.
Up to 80% of misdiagnoses or other medical mistakes are due not to technical failures but to errors in a physician's approach to the patient. Laboratory and statistical data are useful complements to a physician's understanding of a case, but are not a substitute for a careful examination of and dialogue with a patient. Many factors come into play when a doctor examines a patient and takes her history. For example, how a patient describes her symptoms is critical, but when stressed, she might overemphasize or underreport certain symptoms. Personal history, culture and emotional state all play a role in how a patient communicates with her physician. Hadley has this insight about herself as a patient:
I think my skill at adjusting to stressful situations and creating a façade that I am doing fine has sometimes kept me from being taken seriously by doctors. Even when I seek help, I put my best foot forward and minimize how I feel because it's embarrassing to make a big deal of something and then discover it isn't serious and I'm just being a wimp. I always assume first that I must be overreacting. This way of thinking has gone on throughout my life.
Equally influential on the diagnostic process are the doctor's own temperament, biases, and state of mind. Is he impatient to get an answer or frustrated that he can't, in a rush, or over-confident? Does his bedside manner earn him the trust of his patient so that his questions will prompt a spontaneous and open dialogue? Is he biased by something he sees in the patient that might not have anything to do with her symptoms?
Pat Croskerry, a professor at Dalhousie University in Halifax, Nova Scotia who was trained as an experimental psychologist and went on to become an emergency medicine physician, has written extensively about what he has labeled "cognitive errors" in doctors' thinking that lead to misdiagnoses. Cognitive errors stem from failures in perception, failed heuristics (problem-solving techniques), biases, and emotions of the doctor who is diagnosing the patient. Hadley's journey to diagnosis illustrates some of the cognitive errors Dr. Croskerry names: attribution error, affective error, confirmation bias and diagnosis momentum.
Attribution errors occur when a patient fits a positive or negative stereotype. For example, a young man wearing dirty clothes and extensive tattoos who comes into the emergency room in a state of disorientation might be assumed to be on drugs when he's actually suffering a neurological event. A very thin, haggard twenty-year-old who comes in complaining that she gets sick every time she eats might bear a powerful resemblance to one of the twenty million women in the US suffering from an eating disorder, but she might have a serious autoimmune disease. When Hadley, a healthy-looking, industrious, articulate and delightful twenty-something first complained of a variety of symptoms that didn't fit a clear pattern, doctors were inclined to believe that she wasn't seriously ill.
Doctors see a surprising number of patients -- estimates are as high as 11.6% -- who have somatic symptom disorder or who are unnecessarily anxious about their symptoms. Because of this common phenomenon, Hadley was unfairly told by both Dr. Bright and Dr. Youngman not to "obsess," and by doctors at the Mayo Clinic that she might have a functional, or psychogenic, movement disorder. These admonitions and misreadings betrayed the doctors' preconceptions and reliance on past "evidence" as well as their lack of understanding of the individual in front of them -- Hadley.
Doctors make affective errors when they are biased in the direction of a positive outcome for the patient. In this case, the doctor will pay attention to the symptoms and information about a case that will confirm this positive outcome. Hadley's movement disorders specialist, Dr. Youngman, made this type of error when he set aside all the symptoms he himself had originally noted that pointed to parkinsonism and abruptly changed her diagnosis from Parkinson's or MSA to upper motor neuron disease. He based his decision on two tests known to often be inconclusive, a DaTscan and a levodopa challenge test, as well as a test ordered by a neuromuscular specialist. Hadley was on a first-name basis with Dr. Youngman and considered him a friend. Did Dr. Youngman's feelings of friendship influence him to veer away from a drastic diagnosis and pass her on to another doctor?
When I suggested that Hadley see my Dr. Bright to confirm or rule out MSA, I might have unwittingly contributed to the affective error that Dr. Bright made. I admit to having had fantasies that he would swoop in on the proverbial white horse and rescue her from the terrible fate of MSA or Unknown Disease; he might have understood that to be my motivation in referring Hadley to him. When he met with Hadley and John, I'm sure he wanted to be able to give the vibrant young couple good news. He focused on all of Hadley's symptoms that are typical in Parkinson's, choosing to downplay the symptoms that most concerned her: rapid disease progression, an inconsistent response to levodopa, as wells as orthostatic hypotension and other autonomic symptoms that are associated more with MSA. Such cherry-picking of data to support a diagnosis and minimizing information that contradicts it is called confirmation bias. Later, when Hadley pressed Dr. Bright in her email to explain what he saw that made him rule out MSA, he relied on statistical data and evidence from his own experience, citing the fairly common occurrence of young onset Parkinson's and the fact that he'd never seen a case of MSA in someone under forty. (This second point was especially frustrating to Hadley because online, she'd found numerous cases of MSA in people under forty.) Dr. Bright's approach further demonstrated an affective error when he told me that when it comes to diagnosing MSA, he doesn't "circle the wagons around the diagnosis unless they're sure." In other words, he would focus on a positive outcome (Parkinson's) until someone could say with 99% certainty that Hadley had MSA. It's easy to see why well-meaning, caring doctors might be susceptible to making affective errors; it must be very difficult to see a patient cut down in the prime of her life by a deadly disease. To err in this way is human. As Jane Austen wrote in her novel, Persuasion, "We each begin probably with a little bias and upon that bias build every circumstance in favor of it."
Diagnosis momentum is another kind of cognitive error doctors make when they rely on the diagnosis made by doctors who've previously seen the patient. In his book, How Doctors Think, Jerome Groopman tells the story of a woman who, for fifteen years beginning when she was twenty, suffered severely from chronic abdominal pain, vomiting and diarrhea. Doctors diagnosed her over and over again with anorexia, bulimia and irritable bowel syndrome even though she told them she was doing everything she could to gain weight. Finally, at thirty-five, when her bones had begun to decompose and her immune system was failing, she consulted a new specialist. The doctor set aside her enormous stack of medical records and asked her to tell him her story. He listened carefully. Then, he examined the patient with a thoroughness that no other doctor had. He ran a few tests that confirmed his suspicion that she was suffering from celiac disease, an autoimmune disorder in which the body can't digest gluten. For fifteen years, the cereal, bread and pasta doctors had been recommending to the young woman for weight gain had been slowly killing her.
In Hadley's case, the misdiagnoses were not as "sticky" as that of the woman with celiac disease, but sticky enough that the diagnosis of one doctor seemed to unduly influence that of the next, creating something more like "diagnosis diversion" than diagnosis momentum. It was Dr. Youngman who first suggested MSA to Hadley, but when Dr. Bright ruled it out, Dr. Youngman, after running a few tests that didn't support an MSA diagnosis as well as one that could suggest upper motor neuron disease, abandoned the possibility of MSA. Hadley was unconvinced of the upper motor neuron disease diagnosis and traveled to the Mayo Clinic in Rochester to sort out whether she had Parkinson's or MSA. On her second day there, although no specialist had ever suggested a functional movement disorder, a doctor planted this new possibility in her records. In the absence of another clear explanation for Hadley's myriad symptoms, the functional diagnosis gained traction, appearing to cloud the diagnostic process for the Mayo doctors who saw Hadley later in the week.
"It's a truism in medicine that difficult diagnoses are most likely to be made by the most or least experienced doctors," Dr. Lisa Sanders writes in her book, Every Patient Tells a Story. Without preconceptions and experienced-based biases that can build up over years of practice, a novice might be able to see a patient in a fresher light. Doctors with the most years of experience, on the other hand, have in their mental library a vast number of cases from which to draw when making a difficult diagnosis. It's not surprising that Dr. Truitt was able to diagnose Hadley with MSA at her first visit; he has been examining people with Parkinson's and MSA for decades. Hadley and I could be considered the novices in her case, since we knew nothing about MSA when we started talking to each other about how its symptoms mirrored hers. We knew that people with the disease were often first diagnosed with Parkinson's. We were focused on how her experience diverged from typical PD. We paid no attention to statistics regarding MSA's rarity, typical age of onset or the reliability of certain tests for it. Nor did we know about other illnesses that it could resemble, like functional movement disorder and upper motor neuron disease. With our limited knowledge, it was easy for us to remain focused on the evidence that supported a diagnosis of MSA.
To be fair, it is well known that distinguishing MSA from Parkinson's is tough. Because of the diseases' many overlapping symptoms, most doctors rely on time to clarify whether a patient has PD or MSA: if, within just a few years, a patient who's been diagnosed with PD has become incontinent or is unable to walk without falling down, for example, MSA is almost certain to be the cause.
A different patient -- less focused, curious or skeptical, or perhaps more fearful -- might have resisted digging for bad news. But Hadley didn't want to wait until she was falling down every day to get her diagnosis, and she felt very alone with her feelings of urgency. Most published diagnosis stories describe heart-pounding dramas in which a patient's life hangs in the balance in the emergency room or death is otherwise imminent because a diagnosis can't be made. When every second counts, doctors worry about a misdiagnosis that can hurt or kill their patient. However, when a patient is very ill but her life is not in immediate danger, there can be a slackening in a provider's drive to find an answer. Fortunately, Hadley's Dr. Reid in Missoula remained steadfastly intent on helping Hadley to get a diagnosis because they'd developed a strong doctor-patient bond. But in cases like Hadley's when the patient is passed among specialists who don't have an ongoing relationship with the patient, doctors can be less invested in the outcome. One specialist Hadley saw wrote in his report:
Complex individual has a plethora of complaints associated with meager findings.
This doctor was expressing a phenomenon that Dr. Croskerry calls "yin-yang out." When a patient has been "worked up the yin-yang," doctors begin to feel that every avenue has been explored and they've hit a dead end.
Another factor in the confusion surrounding Hadley's case: because there is no treatment that will slow or alter MSA's progression, some of the doctors she consulted might have assumed there was no reason to rush into naming such a dire diagnosis. But without a diagnosis, she was forced into a preoccupation with her health that took an enormous emotional and financial toll on her and her family. She lost days and weeks of being with her family, of working on her art, as well as hours of sleep and the kind of rest a seriously ill person requires. Misdiagnoses that were made, especially of functional movement disorder, caused her nearly paralyzing psychological trauma. In this terrible limbo, Hadley was unable to see her future. How should she take care of herself, and who would help her? Could she take the commission she'd been offered? How could she soothe the fears of those closest to her when she herself was living with such uncertainty?
Although death was not imminent for Hadley the way it might be for someone in the ER, her lack of diagnosis was, undeniably, life-threatening.
In How Doctors Think, Jerome Groopman suggests that to help avoid a prolonged or murky diagnostic process, patients should encourage their doctors to think outside the box by asking them, "What's the worst thing this can be?" He adds, "That question is not a sign of neurosis or hypochondria." His reassuring statement, of course, acknowledges that many doctors do find this question neurotic and hypochondriacal, which is why we laugh dismissively at ourselves when we wonder aloud to our physician whether the tightness in our chest could be heart disease or the new speck on our arm is skin cancer. When I was scared about my symptoms of yet-to-be-diagnosed Parkinson's, my doctor told me there was nothing physical wrong with me; I was just "very anxious." And, when Hadley asked Dr. Youngman and Dr. Bright whether she might have the "worst thing," MSA, they warned her not to "obsess."
It is the doctor, not the patient, who should ask himself unprompted, "What's the worst thing this could be?" Our doctors know that question is on the tips of our tongues and by asking it themselves, they signal they will take our health issues seriously and will investigate them open-mindedly, thoroughly, and with appropriate urgency.