Every Patient Tells a Story

by Lisa Sanders

  The ICU doctors had focused on the bloody diarrhea and had gotten nowhere. Indeed, although the girl had seen blood in her stools at home, since arriving at the hospital she had very little diarrhea. It didn’t seem to Walerstein to be the most important of her symptoms. Instead, Walerstein went back to the striking feature that had caught the ER doctor’s eye—her blood would not clot.

  The liver makes most of the proteins that cause blood to coagulate. Could it be that her liver was no longer making these proteins? Could it be that her liver wasn’t working at all? That would account for both the bleeding and the jaundice. But liver failure is usually marked by dramatic elevations in certain enzymes that are released when liver cells are destroyed, and those enzymes had been nearly normal since she’d come to the hospital. Her doctors had taken that to mean that the liver was not involved in this deadly process.

  What if, instead, the liver had already been destroyed by the time Crystal came to the hospital? What if these markers of liver injury (known as transaminases) weren’t elevated because there were no more liver cells left to injure, if all the liver cells had already been destroyed? No one in the Emergency Department or in the ICU had made this leap. And yet if you looked at it in this way, as Walerstein did, everything made perfect sense. It all fit.

  He then turned his attention to the profound anemia that had been noted from the start. Despite multiple transfusions, Crystal still had only half as much blood as she should. She was bleeding—her red-tinted urine showed that—but she wasn’t bleeding that much. It was clear that her red blood cells were being destroyed within her body. Deep within her chart there was a test that showed this but Walerstein noted that the team caring for her hadn’t considered this in their search for a diagnosis.

  Too often information you don’t initially understand is simply set aside, especially when there is such a wealth of information. Walerstein understood this phenomenon. And once set aside it’s often forgotten. It happens all the time. But Walerstein also knew that in a difficult case like this one, data that has been set aside often holds the key.

  So Crystal had liver failure and red blood cell destruction. That combination stirred something deep within his memory. Walerstein could feel the pieces slowly come together like the cogs in some ancient machine. And then suddenly he knew what this was.

  The internist hurried to the library to check his hunch. Yes! He was right. This combination—liver failure and red blood cell destruction—was an unusual manifestation of an unusual inherited illness: Wilson’s disease.

  In Wilson’s disease, the liver lacks the machinery to regulate copper, an essential mineral found in the diet. Without these chemical tools, excess copper builds up in the liver and other organs and slowly, insidiously breaks them down. Usually this process takes place over decades, but occasionally, for reasons that are still not understood (though it is often associated with the use of antibiotics, as it was in Crystal’s case), the copper blasts out of the liver—destroying the organ in the process—and a lifetime of the stored mineral floods into the bloodstream. Once there, all hell breaks loose: the copper demolishes red blood cells on contact. The kidneys work hard to clear the cell fragments from the circulation but are gravely injured in the process. Meanwhile the high levels of copper in the bloodstream attack virtually every organ in the body. In this form, the disease is rapidly and universally fatal unless the patient receives the only possible cure—a new liver to replace the one destroyed by the jailbreak of copper, a liver that has the machinery to dispose of the excess mineral. If this was Wilson’s disease, this patient needed a transplant immediately.

  But first Walerstein had to confirm the diagnosis. It was late on a Friday night and so it would be impossible to measure the amount of copper in her blood—in any case, his hospital laboratory didn’t even do that test. But there was another way to diagnose this disease. Patients with Wilson’s will often accumulate copper in their eyes—a golden brown ring at the very outermost edge of the iris. Walerstein hurried back to the ICU. He carefully examined the girl’s eyes. Nothing. He couldn’t see the rings, but maybe an ophthalmologist with his specialized equipment could. “It’s not often that you call the ophthalmologist at nine p.m. on a Friday” to do an emergency examination, Walerstein told me. But he related the girl’s story one more time—this time with a likely diagnosis, if only he could confirm it. “I’m sure he thought I was nuts, until he saw the rings.” As soon as Walerstein had the results, he hurried into the patient’s room to tell the girl and her mother what they’d found.

  Crystal Lessing was transferred by helicopter that night to New York–Presbyterian Hospital. Patients with the greatest need get priority in the transplant line. Without a new liver, Crystal would die within days and that put her at the front of the line. She received an organ the following week and survived.

  Crystal’s story is every patient’s nightmare: To be sick, even dying, and have doctor after doctor fail to figure out why. To be given the wrong diagnosis, or no diagnosis at all, and to be left to the ravages of disease with nothing more than your own endurance and the doctors’ best-guess therapy to rely on. To live or die in a modern hospital filled with the promise of treatment and yet without a diagnosis to guide its use.

  How was Walerstein finally able to make a diagnosis after so many others had failed? How do doctors make these tough diagnoses? Walerstein is modest about his role in the case. “I think I was just lucky enough to know about this rare form of this rare disease. No one can know everything in medicine. I happened to have known about this,” he told me. It’s sometimes a mysterious process—even to the doctors themselves. “A bell went off and the connection was made,” Walerstein told me. “That’s all I know.”

  This book is about that bell—how doctors know what they know and how they apply what they know to the flesh-and-blood patient who lies before them. It can be a messy process, filled with red herrings, false leads, and dead ends. An important clue may be overlooked in the patient’s history or examination. An unfamiliar lab finding may obscure rather than reveal. Or the doctor may be too busy or too tired to think through the case. Even the great William Osler must have had his bad days.

  And the patient, by definition sick, frequently tired and in pain, inarticulate with distress, is given the essential task of telling the story that could help a doctor save his life. It’s a recipe for error and uncertainty. It is “an inferential process, carried out under conditions of uncertainty, often with incomplete and sometimes inconsistent information,” says Jerome Kassirer, former editor of the New England Journal of Medicine and one of the earliest and most thoughtful modern writers on this unruly process.

  It’s a wayward path to an answer filled with unreliable narrators—both human and technological—and yet, despite the unlikeliness, that answer is often reached and lives are saved.

  Often, but not always. The possibility of error is ever present.

  It’s certainly not news that medical errors are common. In 1999 the National Institutes of Health (NIH), Institute of Medicine, released a report on the topic—To Err Is Human. In that now famous report the authors concluded that there were up to 98,000 patient deaths due to medical errors every year—the same number of deaths we would see if a jumbo jet crashed every day for a year. That set off a national effort to reduce the rate of errors in medicine that is still bearing fruit.

  That report did not look at errors in diagnosis. And yet errors in diagnosis make up a large chunk of the errors made in medicine. Depending on which study you believe, it is the first or second most common cause of medical lawsuits. Studies suggest that between 10 and 15 percent of patients seen in primary care specialties—internal medicine, family medicine, and pediatrics—are given an incorrect diagnosis. Often the error has no effect—people get better on their own or return to their doctor when the symptoms get worse—but doctors and patients alike worry about the possibility of a diagnostic error that hurts or even kills. In a study of over thirty
thousand patient records, researchers found that diagnostic errors accounted for 17 percent of adverse events.

  Doctors are getting better at making diagnoses. Tests and imaging have made possible diagnoses that were in earlier times only knowable at autopsy. And while postmortem studies done in this country suggest that the rate of unsuspected diagnoses has been remarkably stable over the past several decades, that statistic is skewed by the diminishing number of autopsies performed. A study done at the University Hospital in Zurich, Switzerland, where there is a 90 percent autopsy rate, shows that over the past few decades the number of missed or erroneous diagnoses has steadily dropped. Another study done for the Agency for Healthcare Research and Quality (the AHRQ, a research arm of the NIH) shows a similar trend in this country if you account for the ever shrinking pool of autopsies.

  Still, the fear of getting it wrong is always present for both doctors and patients. As a result, there is a new and growing interest in better understanding diagnostic errors in medicine. The first-ever conference on the topic—one of the earliest signs of growing research interest—was held in Phoenix in 2008. And the AHRQ, the government agency charged with improving the quality of health care in this country, offered its first grants for research on the topic in the fall of 2007.

  Research into diagnostic error, like research into the diagnosis process itself, is still a very new field. There is even difficulty in deciding what constitutes a diagnostic error. What a thoughtful patient may consider an error is not necessarily the same as that which his equally thoughtful doctor might consider an error.

  For example, when a patient comes to my office with a sore throat and a fever, I might check for strep, and if it’s not present I’ll probably send him out with a diagnosis of a viral illness. But I share with all such patients what I expect to happen over the next few days—that they should start to feel better within a day or two. And if not, I tell them to call me and let me know. Because, while the odds are overwhelming that this is simply a viral syndrome, it’s not 100 percent certain. I might be wrong. The test might be wrong. It might be mono. It might be some other kind of bacterial tonsillitis. It might be cancer.

  I can’t just check under the hood and see if the spark plugs need to be replaced—the way a mechanic diagnoses the funny noise your car is making. Instead, I have to listen to the engine and, based on the indirect evidence I can collect, make a thoughtful and well-informed guess as to what is probably going on.

  If I send that patient home with a diagnosis of a viral syndrome and he doesn’t get better and has to come back, would that be a diagnostic error? I suspect the patient would think so. And certainly it wasn’t a correct diagnosis. But did I make an error? Should I have done something different?

  I could have been more certain. I could have sent my patient to an Ear, Nose, and Throat specialist who could have looked down his throat with a special scope. I could have even asked for a biopsy of the red and swollen tissue to confirm my diagnosis. That would be time-consuming and painful for the patient and ridiculously expensive. But even then, the diagnosis would not have been 100 percent certain. In medicine, uncertainty is the water we swim in.

  The chance of being wrong is overwhelming when dealing with something more complicated than a sore throat. Doctors—far more than the patients they care for—recognize that some error is inevitable. From the first moment a doctor sets eyes on a patient, she begins to formulate a list of possible causes of the symptoms—what’s known as a differential diagnosis. As the story emerges, that list is modified—diseases on the list disappear to be replaced by new ones that more closely adhere to the patient’s story, or exam, or sometimes test results. By the end of the encounter the doctor has a list of likely suspects.

  If the doctor has worked through the problem well, there’s a very good chance that one of these possible diagnoses will be right. The rest though, by definition, will be wrong. We are regularly wrong in the pursuit of being right. It’s important to have a list of possibilities because medicine is complicated and diseases and bodies differ. We frequently have a diagnosis that we consider most likely, but we’re taught also to come up with a plan B because our patients don’t always have the most likely disease. The question we are taught to ask ourselves is, if it isn’t that, what else could it be?

  As a collector of diagnostic stories, I find myself frequently asking why one doctor was able to make the diagnosis when others before her couldn’t. Where were the errors? How were they made? What can we learn?

  Sometimes the problem is a lack of knowledge. This was certainly the case in Crystal Lessing’s story. She had a rare presentation of an unusual disease. One of the human limitations in medicine is that no one can know everything.

  There were errors in thinking in Crystal’s case as well. Recognizing that the fundamental problem was liver failure was an essential step in Walerstein’s thinking process—a realization that eluded all of the doctors who had seen her initially.

  There were also mistakes in some of the data collected from the patient. Walerstein noted that the patient’s “bloody diarrhea” consisted of a couple of episodes of bloody stools the day she came to the hospital. And Walerstein was also the first to note the enlarged and tender liver when he examined the young woman—a hint that the organ wasn’t as normal as the blood tests suggested. Abnormalities uncovered by testing were also not interpreted correctly. Crystal’s jaundice was initially attributed to the destruction of the red blood cells. Yet when further testing revealed that this red-blood-cell massacre was not the result of an abnormal immune system improperly attacking the cells, Walerstein was the first to consider other causes of red cell destruction. Research suggests that diagnostic errors—like this one nearly was—are often due to a multitude of missteps made along the way.

  The solution to this case, as with so many cases, lay in the proper use of all the tools we have at our disposal. Walerstein took a careful history, performed a thorough physical examination, and identified the important lab abnormalities. Only then was he able to connect the information about that patient with the knowledge he had to make the diagnosis. Only then did the pieces of the puzzle come together.

  In telling you these stories I try to put you, the reader, in the front line, in the shoes of the doctor at the bedside—to know that feeling of uncertainty and intrigue when confronted with a patient who has a problem that just might kill him. I try to show you the mind of the physician at work as she struggles to figure out exactly what is making the patient sick. To do this I have divided this book according to the steps we take in the evaluation of each and every patient we see. Each chapter focuses on one of the tools of our trade, how it’s supposed to work, and how errors send us astray. As physicians become more open about what we do, we make it easier for patients to understand what they can do to more fully participate in their own care.

  This book has its roots in a column I have written for the past six years for the New York Times Magazine. The column has been my opportunity to share with general readers my personal collection of fascinating diagnostic histories. It’s a collection I began (unwittingly) to assemble years ago, while my own medical career was still in its formative stages.

  I came to medical school as a second career. The first I spent in television news, mostly covering medicine, mostly for CBS. I hadn’t planned to go to medical school; it wasn’t some long deferred dream. But one day, while filming with television correspondent Dr. Bob Arnot, I watched him save an elderly woman’s life. He was supposed to be shooting a stand-up on whitewater rafting when he suddenly disappeared from the raft I was watching in the monitor. The cameraman and I searched the distance and saw him on the banks of the river, pulling an elderly woman onto the rocky shore. The cameraman refocused on this new image and I watched with fascination as Bob performed basic cardiopulmonary resuscitation (CPR) and brought the nearly drowned woman back to life.

  I didn’t quit television right then and there and head off to medical schoo
l, but it planted an idea and revealed a hidden dissatisfaction with my role in TV. Television reaches millions, but touches few. Medicine reaches fewer but has the potential to transform the lives of those it touches.

  So I did two years of premed at Columbia University, then applied and was accepted at the Yale School of Medicine. I completed my residency training at Yale’s Primary Care Internal Medicine program and have stayed on here to care for patients and teach new generations of doctors.

  When I started medical school I thought I would be most interested in pathophysiology—the science behind what goes wrong when we get sick. And, in fact, I loved that subject and still do. But what captured my imagination were the stories doctors told about their remarkable diagnoses—mysterious symptoms that were puzzled out and solved. These were the stories I found myself telling my husband and friends at the dinner table.

  Covering medicine for as many years as I had, I thought I understood how medicine worked. But these stories revealed a new aspect of medicine—one well known to doctors but rarely discussed outside those circles. In writing my columns and now this book, I try to share a face of medicine that is both exciting and important. Exciting because the process of unraveling the mystery of a patient’s illness is a wonderful piece of detective work—complicated yet satisfying. Important because any one of us might someday be that patient. The more you know about the process, the better you will be prepared to assist and understand.

  CHAPTER ONE

  The Facts, and What Lies Beyond

  The young woman was hunched over a large pink basin when Dr. Amy Hsia, a resident in her first year of training, entered the patient’s cubicle in the Emergency Department. The girl looked up at the doctor. Tears streamed down her face. “I don’t know if I can take this any longer,” twenty-two-year-old Maria Rogers sobbed. Since arriving at the emergency room early that morning, she’d already been given two medicines to stop the vomiting that had brought her there—medicines that clearly had not worked.