In my last two columns, I explored just a little of the statistical underpinnings of medical decisions. My conclusion was that such decisions should be patient-centered, not test-centered. The humanistic case for this position is subtended, and fortified, by the statistical case.
But patient-centered care may not take the matter far enough -- because a "patient" is still generic. Truly good medical care must be, in a word: personal. Not about a patient in general, but when you are the patient, all about you.
This is, superficially, a very obvious contention -- of course the care you receive should be about you. And my experience suggests that most clinicians not only embrace this perspective, but doubt there is an alternative.
My vantage point for this observation? For a span of eight years, I was the Director of Medical Studies in Public Health at the Yale School of Medicine. Basically, this meant I had responsibility for teaching public health and related subjects to Yale medical students.
The students' interest in public health was generally tepid at best (as was that of most of my colleagues in practice), largely because they didn't come to medical school to learn how to care for the public; they came to learn how to care for patients, one at a time. Individualized care was what mattered.
Or so they thought. In fact, focusing care on individuals is difficult at best, and at worst, downright impossible. If it were otherwise, care that's all about individuals might actually prevail.
The reality is that in the absence of population data and experience, we would have no idea how to care for patients. What we know how to do for patients is based entirely on patients who have come before. Textbooks are all about historical experience with patients past. How do we know that A treats B? Because of the historical parade of patients with B who have responded to A, while not responding to other remedies.
We know which belly pain is likely to be appendicitis, because we know which patients, with which symptoms, historically wound up having a hot appendix. Ditto for chest pain and heart disease, coughs and pneumonia, headaches and meningitis.
Much of medical decision-making comes down to determining what group of prior patients a current patient is most like, in order to select a course of action most likely to replicate the best achievable outcomes. Aristotle described an "eye for resemblances" as the genius of the poet, referring to simile and metaphor. I have made the case that an eye for resemblances is fundamental to clinical acumen as well.
Evidence-based medicine, in other words, is population-based medicine. The care of any individual patient is based on the experiences of patients who have come before.
And while to some extent that is unavoidable, it is also a great peril. It may be that on any given day, a patient will respond just as predicted, and individualized care and population-based care will blend together seamlessly. But on any given day, a patient may come along who -- through no fault of his or her own -- simply isn't like any patient who has come before! This is true of people with rare diseases, orphan diseases and inscrutable syndromes for which a decisive diagnosis proves elusive.
I have known many such patients over the years, some of whom remain undiagnosed to this day, after seeing a whole array of specialists, uber-sub-specialists and gurus. Most such patients are frustrated, and some are despondent, because the medical profession has the tendency to question the validity of any diagnosis it cannot clinch with an assay or scan. That this is a shame -- and shameful -- is self-evident. Many undiagnosed conditions of the past are diagnosable today. Are we arrogant enough to think this history won't repeat itself, turning today's enigmas into tomorrow's iron-clad diagnoses? Alas, sometimes it seems we are.
My passions on this topic have recently been stirred by my ongoing correspondence with Alexia Norton-Jones. Alexia is the grandchild of W.W. Norton, founder of the publishing house by the same name. Alexia also suffers, as have other members of her family, from a rare form of a rare disease: hypokalemic periodic paralysis.
For a bit of orientation to this condition, I am citing Dr. Jacob Levitt, an associate professor at the Mount Sinai Medical Center in New York, and himself a periodic paralysis patient:
In brief, it is a neuromuscular ion channelopathy where the voltage gating gets perturbed due to a mutation such that imbalances in potassium, inside and outside the cell, cause the voltage gate to shut off, rendering the muscle membrane inexcitable and thereby causing paralysis. There are two main varieties of periodic paralysis: hypokalemic periodic paralysis, where attacks are characterized by low potassium and which are improved by potassium administration, and hyperkalemic periodic paralysis, where attacks are caused by potassium administration. Both forms get attacks triggered by rest after exercise. Both forms respond to acetazolamide, a carbonic anhydrase inhibitor, for unknown reasons.
Periodic paralysis is an example of a rare disease in which diagnostic delay occurs for many patients -- sometimes for years -- delaying treatment and resulting in potentially avoidable, permanent muscle weakness and years of suboptimal quality of life. Patients are frequently dismissed as malingering or as having psychiatric diagnoses due to the bizarre presentation of transient paralysis followed by recovery of normal function.
There are now defined genetic mutations associated with periodic paralysis that give explanation to the root causes of some cases. However, there are also variants for which the underlying genetic cause is as yet unidentified. Alexia has such a case. Here are her own words on a horrific medical experience, probably all-too-common in people with all-too-rare diseases:
I was taken by ambulance entirely unresponsive -- but 100 percent acutely present and conscious -- (as if to appear asleep or not "wanting" to move), with a letter literally on my person, placed by ambulance drivers, including Life Alert info also on top of my person. And the periodic paralysis emergency treatment information also on my person ... and on and on.
And with ambulance driver's clear instructions upon hospital arrival: "No saline, no epi."
Once out of the charge of the ambulance drivers -- and in the charge of the medical techs -- I could hear the most dangerous words of all said from one tech to another as I lay in flaccid weakness unable to communicate: "Let's give her saline and see if she snaps out of this," (giggle, giggle). Because they don't know I can hear, it's like being in a parallax universe.
Needless to say, I tried everything in my power to communicate "I'm here! Don't hurt me!" in small whispers as I tried to force my eyes to focus and open, and my body to move. And a quip from the techs: "She's awake now. More saline ... (giggle, giggle)." I know their joke is as real as a heart attack. Or ICU.
The complete and utter fear alone is often worse than the disease. It's my worst nightmare: dying terrified because someone untrained and ignorant is "absent present," and too desensitized to [understand] compassion or care, or to listen ...
This is very tough stuff to live with. And I believe that education is how we begin to repair this cycle. As the ER doctor said in their defense later; "If it was Parkinson's disease you'd be treated very differently." As he knows, there is no test for Parkinson's. But as he went further to say: "At least the staff has heard of that."
Imagine for a moment living 47 years with inexplicable episodes of weakness and flaccid paralysis with complete awareness and consciousness, and no one believes the experience? That the implication is that you are a liar, a hypochondriac and overly self-involved in an imaginary experience of your own design; that if you only tried harder, you'd be "fine."
It is of course no fault of Alexia's that she has a condition most clinicians will never see -- and many have never heard of. It is not the fault of any patient that he or she is the anomaly, the rare and mysterious case. Any given rare case is rare, but when they are all put together, there is a large population of patients who are all too often punished for stumping doctors.
I do not profess to be an expert in every rare disease -- no one can be. I readily admit that I can be stumped. The burden for me and my colleagues is not omniscience, but humility; an acknowledgment that we will see legitimate conditions that we cannot diagnose.
But we can, and of course should still care -- in both the standard and clinical sense. We should give the patient the benefit of any doubts. We should turn more readily to "perhaps I'm ignorant," than to "perhaps this patient is flaky."
Periodic paralysis is just one example of the many enigmatic conditions that deserve our compassion and respect in the absence of our comfort and full understanding.
We will continue to base what we usually do on the patients who have come before -- we have no good alternative. But we must make room for the unusual patient whose like we have never seen. To do so, we must get past the limits of a population-based perspective. We must, always, get personal about the care we render.
We’re basically your best friend… with better taste. Learn more