Every Patient Tells A Story Part 11

I asked the patient how she felt about her doctor, who had come so close to missing this diagnosis. "But he didn't miss it. He was the first to think of it. And he sent off the test-even though it could prove him wrong. He just wanted to figure out what was going on."

This case ill.u.s.trates a real and growing trend-patients who either diagnose themselves by using the Internet or follow up on their doctor's diagnosis in that manner. But it's not just patients using the power of Google and other search engines these days. A doctor wrote to the New England Journal of Medicine New England Journal of Medicine about an amazing diagnosis made at his inst.i.tution. The case involved an infant with diarrhea, an unusual rash, and multiple immunological abnormalities. The patient was discussed at length in a case conference with residents, attending physicians, and a visiting professor. No consensus was reached. The letter continues: about an amazing diagnosis made at his inst.i.tution. The case involved an infant with diarrhea, an unusual rash, and multiple immunological abnormalities. The patient was discussed at length in a case conference with residents, attending physicians, and a visiting professor. No consensus was reached. The letter continues: Finally, the visiting professor asked the fellow if she had made a diagnosis, and she reported that she had indeed and mentioned a rare syndrome known as IPEX (immunodeficiency, polyendocrinopathy, enteropathy, X-linked). It appeared to fit the case, and everyone seemed satisfied ..."How did you make that diagnosis?" asked the professor. Came the reply, "Well, I had the skin biopsy report, and I had a chart of the immunologic tests. So I entered the salient features into Google, and it popped right up."

This story and their own experiences with patients who had consulted the Internet for information about their own symptoms prompted a pair of Australian researchers to test Google's diagnostic accuracy.

Like Graber, they used the medical case studies published in the New England Journal of Medicine New England Journal of Medicine, selecting three to five keywords from each article, and entered them into Google before they, themselves, read the actual diagnosis. The doctors selected and recorded the three most prominent diagnoses that Google came up with for each case. Then they compared the Google findings with the real diagnosis.

The result? Google flunked. Google found the right diagnosis for only fifteen out of twenty-six cases (58 percent). Of course, Google isn't designed to provide diagnostic support for doctors, so any right answers provided by the powerful search engine are bonuses. One interesting observation was made by the authors: Google was most accurate for diseases that had unique signs and symptoms or rare presentations. This isn't surprising to any of us who use Google, but it's interesting. As anybody who has used a search engine knows, the more unusual your target is, the easier it is to find. For example, if you want to Google two friends, you are much more likely to find the one named Ionia Khammouane than the one named Ann Jones. Information on Ionia is going to pop right up, just like the diagnosis of the case of the child with leukemia and the brown marked rash.

What's interesting is that it's precisely the unusual disorders-the ones with peculiar symptoms that doctors rarely see-that can be most baffling to both doctors and patients. In the case I presented in an earlier chapter, a resident in our program was able to diagnose a patient with intermittent nausea and vomiting because of an unusual symptom-her nausea was improved by hot showers. By Googling that, Amy Hsia was able to identify an unusual and recently described disease called cannabinoid hyperemesis.

Because Google is so universally available, simple, fast, and free, it may become the go-to diagnostic aid for oddball cases. Even the august New England Journal of Medicine New England Journal of Medicine finds Google "helpful in diagnosing difficult and rare cases." Google gives users ready access to more than three billion articles on the Web and is far more frequently used than PubMed for retrieving medical articles. finds Google "helpful in diagnosing difficult and rare cases." Google gives users ready access to more than three billion articles on the Web and is far more frequently used than PubMed for retrieving medical articles.

The authors of the Google study note that, in fact, Google is likely to be a more precise diagnostic tool for clinicians than the lay public because clinicians will use more specific search terms ("myocardial infarction" rather than "heart attack," for example) and will be better able to identify likely hits because of their preexisting knowledge. Patients, using everyday language, are likely to end up with fewer useful hits buried in pages of irrelevant sites. Their ability to distinguish the useful hits will be compromised by their unfamiliarity with medical language.

The power of Google in the realm of medical diagnosis has not been lost on Google itself. Google has formed a Health Advisory Panel to inform its work in this area. And Google has launched a major effort to improve the quality of medical-related searches by having reputable organizations (such as the National Library of Medicine) and individual doctors flag Internet sites offering reliable information. These sites are then given prominence when search results are returned and are labeled with the individual or organization that has vetted them.

Google is very open about its plans to improve search capabilities for patients, but the company is mum on the subject of doing the same thing for physicians (Google representatives declined to be interviewed on this subject). Perhaps that's because doctors are a valuable audience and if Google can find a way to improve diagnostic search results to the point of being more accurate than Isabel and other commercial systems, it could effectively capture the market and be able to leverage all those physician "eyeb.a.l.l.s" with advertisers.

But even a more accurate Google-based diagnostic decision support system wouldn't really solve the problem of missed diagnoses. To begin with, any system that must be consulted separately from the digital works.p.a.ce in which a doctor or nurse deals with a patient will only be used when there is uncertainty in the mind of the health care professional. If a doctor is sure of her diagnosis, or a nurse is certain that the correct medication has been prescribed, they won't turn to Google (or Isabel, or DXplain, or any other system).

Computer programs won't really make a dent in the problem of misdiagnoses and other types of medical errors until they are much "smarter" and easier to use than they are today.

"Future systems need to operate in the background," says Eta Berner, the researcher who has tracked progress in medical computing for decades. "The doctor shouldn't have to enter anything. The system should be able to extract information from what the doctor or nurse is already doing ... taking notes or entering lab values or prescribing medications. The system should be intelligent enough to provide an alert or a reminder only if something is really missing ... a test, for example, or a medication."

Berner foresees a time when all of the now fragmented information streams in the health system will be unified and made consistent. Patients' health records will be fully digital-including images such as MRI scans or X-rays. Standard words, phrases, and units of measurement or description will be used so that computer systems in distant locations can intelligently and accurately use the information. Doctors and nurses will enter all information in digital form-handwriting (never doctors' strong suit anyway) will be obsolete.

With this kind of a system in place, the possibility of infection with the schistosomiasis parasite would have popped up the very first time the young woman described earlier was evaluated in an emergency room. The likelihood that little Isabel Maude was suffering from a rare complication of chickenpox would not have been easy to ignore. And the patient with Rocky Mountain spotted fever wouldn't have had to use Google herself ... her doctor would have already seen the tight fit between her symptoms and that possible diagnosis.

Of course it will be years-and more likely decades-before this kind of a system is in place. And although I think it is inevitable that the vast resources of the digital age will become more fully integrated into our health care system and the doctor's diagnostic routine, it may not take the form we antic.i.p.ate. Computers have already revolutionized our diagnostic abilities dramatically. I think the first and most important digital diagnostic tool developed was the CT scanner. It was the development of powerful computers that allowed us to capture data from a series of two-dimensional images to create a three-dimensional representation of the body. Since 1972, when the CT scan was first developed, this tool has made routine diagnoses that would previously only have been discovered after death. So while we envision a future where the computer learns how to think like a doctor, it is possible that its greatest contributions will take a very different form.

Would a kind of super-efficient, integrated, intelligent computer system eliminate all diagnostic challenges? Would it replace doctors? Hardly. I believe the process of diagnosis will be made more effective and that it will be faster and easier in the future to zero in on what's really wrong with a patient. But there will always be choices to make-between possible diagnoses, between tests to order, and between treatment options. Only a skilled and knowledgeable human can make those kinds of decisions.

And, of course, people need more than the right treatment for the right disorder. They need to be heard, they need rea.s.surance, explanations, encouragement, sympathy-the full range of emotional support that is a critical part of what we doctors try to do: heal.

AFTERWORD.

The Final Diagnosis "I'm sorry," the young man on the telephone said to me. His voice was hushed and sympathetic, difficult to hear over the usual commotion of the clinic bustling just outside my office door. He was a stranger to me. He said his name was Jorge. He was an old friend of a young woman we both knew quite well. "I'd chatted with her on the phone maybe twenty minutes earlier. She said come by and so I just drove on over."

He told me that he'd rung her bell early that sunny September morning and when there was no answer, he clanged through the backyard gate. When he saw her stretched out on the chaise longue in her bathing suit, his first thought was how pretty she looked. "I'm a married man, so it wasn't like that, but she's always been a looker." When she didn't reply to his "Hey, how's it going?" he approached her and put his hand on her shoulder. Her skin felt warm but he noticed how strangely pale she was under her tan. "And I knew then, I knew. Her cell phone was right there next to her, like it always was, so I picked it up and dialed 911."

I thought back to the last time I'd seen Julie: her tanned cheeks still un-lined, her eyes so blue that even the whites were the color of robin's eggs. I could hear her deep tobacco-coa.r.s.ened drawl and her earthy sense of humor. I closed my office door and dropped into my chair.

My beautiful and mysterious little sister was dead.

My first thought, when thought was finally possible, was how? More than anything, I wanted to know how a young woman could die so suddenly that she didn't even have time to call for help. What happened?

It was a strangely familiar question. When patients of mine have died, their spouse or parent or child or friend would ask me this very question after I broke the news. In waiting rooms outside the emergency room or ICU, shocked, sad, crying-they would ask: Doctor, how did this happen? How did this person, so very alive not so long ago, die? I would do my best to answer, to pull together the strands of a devastating illness or collapse, but it seemed a peculiar question-as if an explanation could somehow soothe the jagged edges of loss. But it made sense to me now. I suddenly understood that terrible need to know how.

At forty-two, my sister was healthy. But she was also an alcoholic. For the past fifteen years or so, her life had been dominated by this desire, and then this need, to drink. She'd started out-like so many-with excesses in high school, but calmed down after marriage and the birth of the son she loved. Over time, and for reasons I will never know, Julie's drinking became more frequent. Weekend binges rapidly became the daily dose she'd sneak as she got her son ready for day care, or as she set out for work, as she prepared dinner or put her son to bed.

She tried to stop. Again and again she would check herself into a hospital, or simply start going to AA meetings and try-I think, really try-to stop. She would call us almost daily, triumphant with the exact number of days, even hours, since her last drink. Then the calls would become less frequent. Her voice mail would tell us she'd call us back but she rarely did. And then finally there would be silence. Until she would try once more. My sisters and I-we were a family of five sisters-watched in helpless distress. Over the years we'd learned what all relatives of alcoholics learn: that everything we could do still was not enough.

And then she died, as mysteriously as she had lived.

What could kill a young woman that young, that fast? Jorge had found her cell phone along with a pack of cigarettes and a c.o.ke sitting right beside her. She was obviously tanning herself, relaxing in the summer sun. Whatever killed her struck so quickly that she could not reach over to pick up the phone and dial 911. What could do that that? I couldn't get that terrible question out of my mind. As I made arrangements to travel home, I puzzled over it. I went into my doctor mode-in part because it was a way of managing my grief and in part because it's what I'm trained to do. And without really wanting to, I found myself putting together a differential diagnosis, searching for scenarios that might explain how my sister had died so abruptly.

Certainly a heart attack can be quick and deadly, especially at a young age. But that would be unusual in a forty-two-year-old woman. And we had no family history of heart disease. A ruptured blood vessel in her brain could cause an instantaneous loss of consciousness and rapid death. A ma.s.sive clot that went to her lungs was another possibility. She was a smoker; maybe she was also taking birth control pills. That combination has been linked to such clots. Infection seemed unlikely. And yet, had she been sick? I didn't know. Suicide was unthinkable to me, but it had to remain a possibility. She was often deeply depressed during these relapses. An accidental overdose was also possible.

The coroner in Savannah, Georgia-where she had lived her last year and where she had died-ordered an autopsy be performed. Although one of my sisters was upset with what she saw as a violation, I was grateful. An autopsy, I hoped, would provide me with this necessary and final diagnosis.

Autopsy-the word comes from the Greek autopsia autopsia, meaning to see for oneself. Historically the autopsy has played a critical role in medicine. For centuries everything we knew about disease was derived from examining the body after death. Even now when my patients ask me about their aches and pains for which I have no diagnosis, I confess to them that our knowledge of diseases that can't can't kill you is fairly new and much less developed because even now most of what we know about disease was derived postmortem. Medicine's first toehold into modern-day diagnosis came at the last half of the eighteenth century, when Giovanni Battista Morgagni, a physician and professor at the University of Padua, published kill you is fairly new and much less developed because even now most of what we know about disease was derived postmortem. Medicine's first toehold into modern-day diagnosis came at the last half of the eighteenth century, when Giovanni Battista Morgagni, a physician and professor at the University of Padua, published On the Seats and Causes of Diseases Investigated by Anatomy On the Seats and Causes of Diseases Investigated by Anatomy. This book, completed when Morgagni was seventy-nine years old, was composed of hundreds of beautifully detailed drawings from autopsies that he'd performed over the course of a long career. These carefully drawn images revealed the destruction and distortions of the anatomy hidden beneath the skin and leading to death. By showing exactly how disease manifests itself in these visible, concrete ways within the body, the work inspired generations of doctors to investigate the process by which disease can distort and derange our most fundamental anatomy. For centuries disease and death had been attributed to humors or spirits or other intangibles and not something as real, or as clearly visible, as it was in these images.

For the past 250 years autopsy has been one of medicine's most reliable sources of information about the nature of disease. Cancer, heart disease, hemorrhage were all first seen through the exploration of the body after death. In the twentieth century, autopsy was used as the ultimate diagnostic tool. At its peak, up to half of all patients who died in the hospital underwent postmortem evaluation. Too late to help the patient, what was revealed was often useful knowledge for the doctor, the hospital, the family. Diseases missed or undetectable with the available technology were finally made visible. Doctors could use the knowledge for the benefit of their next patients. Hospitals used the information as a form of quality a.s.surance on the care they provided and the skills of the doctors who practiced there. There were benefits for the bereaved family as well. The disease that took their loved one could be a risk for them as well.

These days, patients who die in a hospital rarely make it to the pathologist's table. Hospitals used to be required to perform autopsies. The Joint Commission on Accreditation of Healthcare Organizations-the regulatory body overseeing hospitals-required these inst.i.tutions to maintain autopsy rates of at least 20 percent (25 percent for teaching hospitals), which was, and continues to be, the rate most advocates say is the minimum for monitoring diagnostic and hospital error. The commission eliminated that requirement in 1970. Medicare stopped paying for those that still got done a few years later.

Until quite recently autopsies were also considered an essential component in medical training. Residency programs were required to get autopsies on 15 percent of all the patients who died while under resident care. Seeing the real ravages of disease was considered an important part of medical training. But the requirements for most medical trainees were rolled back in the 1990s. Small residency programs objected to the ever growing cost-autopsies were not paid for-and enforcement of the rule was difficult.

Even before the rollbacks of the requirements on hospital and training programs, the number of autopsies performed had plummeted. In the 1960s, nearly half of those who died in the hospital were autopsied. Only forty years later, at the turn of the twenty-first century, that rate had dropped to less than six per one hundred in-hospital deaths. We don't even know how many are done now because that data isn't collected anymore. In the community hospital where I take care of patients, there were ninety-three autopsies done in 1983. One recent year, we had performed a grand total of eleven autopsies and almost half of those were on stillborn infants.

What's happened here in the United States has happened everywhere. There's been a global decline in the rate of autopsies-a reflection, in part, of the increased cost of health care, augmented by long-standing cultural concerns about this kind of violation of the body. But the real driving force behind this plunge has been the growing confidence of doctors and patients that the diagnoses given in life were accurate.

Certainly a doctor's ability to make an accurate diagnosis has improved dramatically over the past half century. A recent study done by the U.S. Agency for Healthcare Research and Quality suggested that the likelihood that a doctor will make an important diagnostic error has declined by 25 percent each decade since the middle of the century. It is a testimony to the effectiveness of the new technology of testing we have at our fingertips.

But that study also shows that doctors still miss important problems. Of the few autopsies still done, a diagnosis that could have changed the management of the patient-and therefore possibly changed the final outcome-was found in one out of twelve autopsies. These days, doctors only order autopsies when the patient's death came as a surprise or the underlying illness was not understood. Given that, it's perhaps not surprising that something important was missed; it's why the doctor got the autopsy in the first place. And yet several studies have shown that doctors are unable to predict which cases will provide the surprises. It turns out that in medicine (as in war, according to Donald Rumsfeld) there are the things you know you don't know, and then there are the things you don't know that you don't know. Autopsies are one way to explore those dark recesses. The drop in the number of autopsies suggests that neither doctors nor hospitals are interested in exploring the deep recesses of what we don't know we don't know.

My sister didn't die in the hospital, where the odds that she would ever have a final diagnosis were small. She died "in the field" and so hers became a medicolegal death. The medical examiner and coroner are twin investigative arms, designed to look into unexpected deaths. The most important difference between the systems is that medical examiners are always physicians, usually pathologists, appointed by the state; a coroner is an elected officer, and rarely a physician. Both are charged with the investigation of any unexpected death outside the hospital. As watchers of CSI CSI know, detecting whether a crime occurred causing the death is the primary goal. In addition, medical examiners can provide a public health service-an early alert system to identify emerging infections. Because my sister died in her own backyard, she fell under the authority of the state of Georgia's coroner's system and so her body was taken for autopsy. The unexpected death of a young woman merited an investigation-one that I hoped would provide me with an answer. know, detecting whether a crime occurred causing the death is the primary goal. In addition, medical examiners can provide a public health service-an early alert system to identify emerging infections. Because my sister died in her own backyard, she fell under the authority of the state of Georgia's coroner's system and so her body was taken for autopsy. The unexpected death of a young woman merited an investigation-one that I hoped would provide me with an answer.

As we waited for the coroner to finish his gruesome investigations, I continued to try to find out more about the hours and days before she died. Were there clues there? Jorge, the friend who'd found her, provided a few details. They were painful to hear. My sister had been on a binge over that Labor Day weekend. A serious binge. She'd called him that morning, filled with remorse and shame but also determined that this time she would be able to stop. She felt weak, tired, achy. She had a stomachache, a headache; her back hurt. He said he'd be right over, and he had been. And that's when he found her.

Another sister had spoken to her just a couple of days before she died. "She went to the doctor last week, and she never does that. She had a stomachache. But the doctor didn't find anything. Anyway, I wonder how much she even told him."

I called the office where she'd been seen. "She was here once, several years ago, and then again about a month ago," the doctor reported. I could hear papers rustling as he paged through her chart. "During that visit she complained of some persistent lower abdominal pain for the past few days. Some nausea, some vomiting, no diarrhea. She denied any past medical history, took no medications. On physical exam she was a thin, tired-appearing woman. Her blood pressure was normal 122/80, heart rate was high but still in the normal range. She had no fever. Her abdominal exam was unremarkable: minimal generalized tenderness, bowel sounds were present. I didn't do a rectal." Pages crinkled. "A urinalysis was normal. A CBC [complete blood count-a test that quantifies white blood cells, red blood cells, and platelets] showed no evidence of infection. I thought she might have had a virus and I gave her something for her nausea and a mild painkiller. I told her to call if she didn't get better." He paused and the rustling stopped. "I didn't know she died. I'm sorry."

I flew home to our family graveyard, already crowded with the stones of the last generations. My sisters and I received flowers, condolences, ca.s.seroles. We waited for the coroner to send us her body and when it was delivered, we buried her. People came from our hometown and her new town. I met Jorge and a few of her other friends from AA. I found then that we all struggled with the same question: how?

After the funeral I called the coroner's office, confident that they would have an answer. The report wasn't complete-laboratory data was still pending-but I persuaded the office a.s.sistant to stumble through the report to the conclusion. They had completed the autopsy but had found nothing, no evidence at all of what had killed my sister. The woman on the phone was kind, and apologetic. She could feel my disappointment.

I went to my first autopsy as a first-year medical student. I had half a year of anatomy under my belt, so I had seen death up close before. There was a small group of medical students and residents there to observe. As we put on the paper jumpsuit, face shield, and mask that are required in an autopsy room, the pathologist briefly outlined the case. It was a young woman who had died just days after giving birth to her first child. The last weeks of her pregnancy had been complicated by high blood pressure-too high to control even with the several medicines that she had been given. She then developed kidney and liver failure and was diagnosed with preeclampsia-a mysterious and unusual complication of pregnancy. The only successful treatment for this is delivery of the baby, and this young woman had had a cesarean.

But even after this child was delivered the mother remained ill, and then suddenly died. What had killed her? That was the question the autopsy was to answer.

We trooped into the autopsy room, a large, brightly lit chamber with inst.i.tutional green walls and dotted with several body-length stainless steel tables. At each station there was a scale, a table for specimens, and a hose trickling water along a trough beneath the table. The deep rumble of an exhaust fan added to the industrial feel of the place.

Despite the thick paper mask I had fastened over my nose and mouth, the sickly sweetness of the cleansers and preservatives was apparent, and beneath that the fetid animal smell of blood and stool. The body of the young woman lay on the table. She was naked-tiny and vulnerable on this long cool slab. She could have almost been asleep except for the mannequin pallor of her skin. Her short brown hair hung down to the table; her neck was elevated on a block of wood. A small tattoo on her shoulder showed a bird in flight.

The technician announced the time and then, with practiced swiftness, picked up a scalpel and inserted the blade into the young woman's chest just beneath the left collarbone. He sliced down and across the chest to the bottom of the middle of the rib cage. No blood flowed from this wound.

He swiftly cut through the ribs on the right, completing a large V across her chest, then continued straight down her abdomen, past the still raw surgical scar from her C-section down to her pubic bone. The calm, utilitarian brutality was fascinating and a little repulsive. Still, the laboratory-like environment and the subtle changes in the body that screamed that no life was left in this sh.e.l.l made the unthinkable possible.

The technician, a middle-aged man with beefy arms, opened the chest and abdomen, revealing the organs within. One by one the organs were cut free of their connections, brought out of the body, inspected, and then weighed. Every observation and measurement was announced and recorded, to be transcribed later.

The lungs were lifted out to reveal the heart, which, we were told, was enlarged. She was so small that it looked tiny to me but when it was weighed, there was a murmur among the cognoscenti, an acknowledgment that the heart was indeed surprisingly large. The rest of the organs were removed, inspected, and weighed, then lined up on the table for closer inspection later.

The technician moved up to the head. He made an incision across the back of the scalp, then peeled the tissue forward as easily as you might fold back the skin from a banana. Using what looked like a power saw, he quickly cut a circle in the top of the skull. He pried the loosened lid of skull bone away with a slender crowbarlike tool. The pale grayish tan ripples of the brain I knew from my own explorations in anatomy cla.s.s were not there. Instead I saw what looked like a smooth gray ball, blotched with coaster-sized circles of shiny brown-black. The brain was hugely swollen. The coasters were old blood congealed on the surface. Clearly some large blood vessel in her brain had ruptured, filling all the available s.p.a.ce and squeezing the brain to a shiny unnatural smoothness. She'd had a cerebral hemorrhage-a consequence of the high blood pressures that even the birth of her child and all of our medicine were unable to bring down.

When the coroner's a.s.sistant told me that my sister's autopsy was unrevealing, I thought about that young woman. Involuntarily I pictured my sister lying on that aluminum slab, the deep blue eyes closed, the sun-bleached hair matted around her, her innermost recesses exposed to the expert eye of those who didn't even know her. It hurt to imagine it. Surely they'd seen traces of the hard life she'd led: dark lines in her lungs revealing her long history of tobacco; an enlarged liver-or perhaps a liver scarred and shrunken from her years of drinking. There was a painful kind of embarra.s.sment as these technicians learned the secrets of my little sister's life. As if they'd walked in on my sisters and me in grief and had somehow seen all our secrets as well. Yet nothing they learned would account for her sudden and unexpected death. I hung up the phone and took a few deep breaths.

These disappointing results actually did have something to tell me. The autopsy would have shown if she'd had a ma.s.sive bleed somewhere. Or a large clot in her heart or her lungs. Or a deadly infection. Instead, she appeared to be completely normal.

There are only a few things that can kill you without leaving a mark. Had she overdosed on drugs? Alcohol was her drug of choice-did she add anything else to the mix? And if she had, did she do it on purpose? The thought of a despair leading her to take an intentional overdose was almost more than I could bear. The police hadn't found any pill bottles or evidence of illegal drugs at the scene and there was no note. Or could she have had an abnormal heart rhythm? And if she had, what could have caused it? The next step would be for the coroner to examine her blood and tissues for causes that would be invisible to the eye.

The last time I spoke with my sister was on her birthday. I could tell she'd been drinking because she didn't want to talk. "What's new?" "Nothing much," she reported. "Same old, same old. Going to work, going to meetings, going home." She took a deep drag off her cigarette. "How about you?" she asked, avoiding any real talk about her life. I told her a bit about my two kids and we ended our brief conversation, with dissatisfaction at both ends. She said she was going to meetings, but if she hadn't been drinking she would have been full of details, of stories, of humor. My sister was a cheerless drunk: secretive, defensive, quiet; so different from the exuberant, down-to-earth woman she'd been before drinking had taken over her life.

As we cleaned up after the funeral reception, my sisters and I talked about her last few years. The sister who had remained closest, both geographically and emotionally, recalled taking her to the hospital once before. "You remember, don't you? She was vomiting up blood and I took her to Roper. They took some of her blood and after she was 'scoped, a young doctor came in to see her. He told her that her pota.s.sium was dangerously low and they had to give her pota.s.sium in her veins."

Low pota.s.sium-hypokalemia-is a well-described complication of alcoholism. When taken in excess, alcohol can cause the body to dump certain electrolytes-like pota.s.sium, like magnesium. Normally this would not cause a problem because we replace these electrolytes every day. Most of us eat far more than our bodies can ever use. But alcoholics sometimes don't replace these vital chemicals. And once these key electrolytes get outside the normal range, it's hard for our bodies to work well. If they get too far from normal, then they can't work at all: our heart simply stops and we die.

Our bodies are well protected against this, normally. But for my sister these were not normal times. Could this critical imbalance have occurred again? The circ.u.mstances were right: she'd been on a binge, and probably hadn't been eating. I knew that in the past she'd lost five, even ten pounds while on a binge because she simply didn't eat. I'd forgotten about her history of hypokalemia. That had happened right after a binge too. Without pota.s.sium your heart could just stop beating. No pain; no time to reach for the phone. Could that be what killed her?

After several weeks the coroner was finally able to release her report. No abnormalities were found other than those normally seen after death. There was alcohol but no poison, no drugs, no sign of infection. Her electrolytes were completely out of whack. Her pota.s.sium was not too low-as I had expected-but much too high. I called the pathologist who had done the autopsy. Could my sister have died from this unantic.i.p.ated elevation in her pota.s.sium? No. She told me that the high pota.s.sium I saw was due to the changes that occur in all bodies after death. If there had been a critically low level of pota.s.sium or some other vital chemical, which ultimately made her heart stop, death itself had erased all the evidence.

So the autopsy didn't have the answer. And yet, putting it all together-her history of hypokalemia, her unrevealing autopsy, the suddenness of her death, I knew what had happened. I could put the story together in my head. Jorge told me that Julie had been drinking and I knew that she didn't eat when she was on a binge. That combination would account for the abdominal pain that sent her to the doctor's office. Her pota.s.sium was low. That's why she'd felt so achy and tired the morning she died. The low pota.s.sium must have tripped her heart into a fatally irregular rhythm. Her death would have been almost instantaneous-leaving no time to even call 911.

I spent the following Christmas with my three sisters. In a rented beach house on a cold gray December night, after children and husbands had gone to bed, we sat and talked about Julie. Although more than a year had pa.s.sed, the loss was still fresh, and this holiday-our first together without her-made the pain even sharper. For them, the peculiar facts of how she died were just more of the jumble of unconnected mysteries that so often trailed my little sister. So I told them in plain words about what my textbooks call hypokalemia, and explained my version of the story of Julie's death. With this final piece of the puzzle in place, it became easier to fit the story of her sudden death into the longer story that we already knew-the story of Julie's disease, the story of her alcoholism, and then into the even longer story of her life. Yes, she was the drinker who died, but she was also the funny, earthy woman whose biting sense of humor helped her handle the toughest breaks tossed her way with a wink and a wicked one-liner.

"You know Julie would just laugh if she could see us now," one sister remarked dryly, dotting her tears on a ragged tissue. "She always said that it's not really Christmas until everybody cries. We stay up too late, eat too much, drink too much, see too many people we love and hate. Just too much going on for the human heart to handle." And then, suddenly, we were able to start trading our accounts of that Julie. She had a way of laughing about the mundane suffering of everyday life that I envied. It felt good to miss her, that much, with all my sisters, and in this way.

We kept up the laughter and the stories until the approaching dawn signaled that it was time to wrap it up. By then medicine wasn't a solace, or even part of the evening. That version of the story had long ago drifted into the deep background of what we all knew now. The chilly, precise language of pota.s.sium and arrhythmia had been aired out, unpacked, and retranslated back into the comfortable idioms families speak when the medical personnel have long since left the room. Ultimately, medicine can't bring comfort, but it does help tell the final story in a life. Knowing how someone died makes it easier to remember how they lived. And after medicine has finished doing all that it can, it is stories that we want and, finally, all that we have.

ACKNOWLEDGMENTS.

This book originated in the pages of the New York Times Magazine New York Times Magazine and was only possible because Paul Tough, an editor there, believed that the stories I told in casual conversation could be successfully translated onto the pages of the magazine. Thank you, Paul, for your vision. Over my years there, I have been the beneficiary of the generous guidance of many great editors. Thank you Dan Zalewski, Joel Lovell, Catherine Saint Louis, Ilena Silverman, Katherine Bouton, and Gerry Marzorati. and was only possible because Paul Tough, an editor there, believed that the stories I told in casual conversation could be successfully translated onto the pages of the magazine. Thank you, Paul, for your vision. Over my years there, I have been the beneficiary of the generous guidance of many great editors. Thank you Dan Zalewski, Joel Lovell, Catherine Saint Louis, Ilena Silverman, Katherine Bouton, and Gerry Marzorati.

To the patients who shared with me some of the most terrifying moments of their lives-those hours, days, sometimes weeks between the time when mysterious symptoms appeared and the correct diagnosis finally made-I owe an incalculable debt of grat.i.tude. I have learned so much from you all. Thanks also to the doctors who allowed me to see and recount the uncertainty they faced as they tried to unravel the mysteries of these patients. The diagnostic process is much more than the triumphant declaration of the cause of an illness, and I am deeply indebted to the doctors who allowed me to map the landscape of that uncertainty.

With all these wonderful stories at hand, I was shocked by the challenge of shaping them into the book I wanted to write. Mindy Werner nursed this inchoate ma.s.s of ideas and stories into the foundation of this book. Steve Braun used his considerable skills as a reporter to help me find just the right building materials. And Karl Weber, thank you for helping me shape these chapters into the book it is now. My running partners Elizabeth Dillon and Serene Jones listened as I struggled through these chapters as we took on the hills of East Rock. No matter how breathless, they could always be counted on to ask the questions that needed to be asked. Anna Reisman, Eunice Reis man, John Dillon, Pang Mei Chang, Betsy Branch, and Allyx Schiavone read through these chapters more times than I can count-and without complaint. Their comments steered me back whenever I wandered deep into medical arcania, and my stories are better told because of their help. At Yale, Steve Huot, Julie Rosenbaum, August Fortin, Donna Windish, Andre Sofair, David Podell, Michael Green, Dan Tobin, Steve Holt, Michael Harma, Jeanette Tetrault, Jock Lawrason, and the rest of the faculty, staff, and residents created a stimulating and supportive community in which to do this work. Tom Duffy, Frank Bia, Nancy Angoff, Asghar Rastegar, Patrick O'Connor, Majid Sadigh, and Eric Holmboe taught me almost everything I know about being a doctor and helped me shape many of the ideas in this book. The resident reports presided over by Jerome Ka.s.sirer were models of clear medical thought and great storytelling. I paged through my notes of these hours of medical exegesis frequently as I was working through these chapters-especially those on thinking.

Jake Brubaker, Edmund Burke, Laura c.o.o.ney, Onyi Offor, Valerie Flores, Marjory Guerra, Jason Brown, and Clayton Haldeman, provided an enthusiastic cheering section each week as I slowly made my way through the writing of this book. Paul Attanasio had a vision for how stories like mine could be told on television. Thank you for inviting me into the miraculous world of television doctoring. Thanks also to David Sh.o.r.e-who tapped his inner House to bring life to the doctor-detective Gregory House and his pa.s.sionate pursuit of diagnosis, which made this topic so near and dear to my heart part of the national conversation.

Charles Conrad, my editor and guiding light at Broadway Books, believed in this book from the beginning. His quiet wit, vision, and (thank G.o.d) patience, provided the kind of steady hand I needed throughout. Copy editor Frederick Chase had an eye for detail that prevented any number of embarra.s.sing errors. My friend and agent Gail Ross was certain this was a book well before I was, and held my hands through it all. Gail, I owe you big. Thanks also to Jennifer Manguera, who worked hard to keep my literary house in order.

Finally, I am grateful to my daughters, Tarpley and Yancey. You have been the center of my world and the gravity in my solar system. When the orbit of this book took me to the darkest part of my own personal universe, your love pulled me back to the warmth of this wonderful family I managed to be part of. And to Jack, without whom none of this would have been possible-which is why this book is dedicated to you.

NOTES.

Introduction: Every Patient's Nightmare xv "cookbook medicine": "cookbook medicine": Berner E, Graber M. Overconfidence as a cause of diagnostic error in medicine. Berner E, Graber M. Overconfidence as a cause of diagnostic error in medicine. Am J Med Am J Med. 2008;121:S223.

xxii "an inferential process, carried out under conditions of uncertainty": "an inferential process, carried out under conditions of uncertainty": Ka.s.sirer J. Teaching problem-solving: how are we doing? Ka.s.sirer J. Teaching problem-solving: how are we doing? N Engl J Med N Engl J Med. 1995;332:15071509.

xxii Inst.i.tute of Medicine released a report on the topic: Inst.i.tute of Medicine released a report on the topic: Kohn LT, et al., eds. Kohn LT, et al., eds. To err is human: building a safer health system To err is human: building a safer health system. Committee on Quality of Health Care in America, Inst.i.tute of Medicine, National Academy Press, Washington, D.C., 2000. Book text is available online at http://books.nap.edu/openbook.php?isbn=0309068371.

xxii Depending on which study you believe: Depending on which study you believe: Graber M, et al. Reducing diagnostic errors in medicine: what's the goal. Graber M, et al. Reducing diagnostic errors in medicine: what's the goal. Acad Med Acad Med. 2002;77:981999. Holohan TV, et al. a.n.a.lysis of diagnostic error in paid malpractice claims with substandard care in a large healthcare system. South Med J South Med J. 2005;98(11):10831087.

xxii Studies suggest that between 10 and 15 percent: Studies suggest that between 10 and 15 percent: Berner E, Graber M. Overconfidence as a cause of diagnostic error in medicine. Berner E, Graber M. Overconfidence as a cause of diagnostic error in medicine. Am J Med Am J Med. 2008;121:S223.

xxii In a study of over thirty thousand patient records: In a study of over thirty thousand patient records: Leape L, et al. The nature of adverse events in hospitalized patients: results of the Harvard Medical Practice Study II. Leape L, et al. The nature of adverse events in hospitalized patients: results of the Harvard Medical Practice Study II. N Engl J Med N Engl J Med. 1991;324:377384.

xxii And while postmortem studies: And while postmortem studies: Goldman L, et al. The value of the autopsy in three different eras. Goldman L, et al. The value of the autopsy in three different eras. N Engl J Med N Engl J Med. 1983;308:10001005.

xxiii A study done ... in Switzerland: A study done ... in Switzerland: Sonderegger-Iseli K, et al. Diagnostic errors in 3 medical eras: a necropsy study. Sonderegger-Iseli K, et al. Diagnostic errors in 3 medical eras: a necropsy study. Lancet Lancet. 2000;355:20272031.

xxiii Another study done for the Agency: Another study done for the Agency: Shojania K, et al. The autopsy as an outcome and performance measure. Evidence Report/Technology a.s.sessment no. 58 (Prepared by the University of California at San FranciscoStanford Evidence-Based Practice Center under Contract No. 290-97-0013), AHRQ Publication no. 03-E002. Rockville, MD, Agency for Healthcare Research and Quality, October 2002. Shojania K, et al. The autopsy as an outcome and performance measure. Evidence Report/Technology a.s.sessment no. 58 (Prepared by the University of California at San FranciscoStanford Evidence-Based Practice Center under Contract No. 290-97-0013), AHRQ Publication no. 03-E002. Rockville, MD, Agency for Healthcare Research and Quality, October 2002.

Chapter 1: The Facts, and What Lies Beyond.

6 Indeed, the great majority of medical diagnoses: Indeed, the great majority of medical diagnoses: Hasnajn M, Bordage G, et al. History taking behaviors a.s.sociated with diagnostic competence of clerks: an exploratory study. Hasnajn M, Bordage G, et al. History taking behaviors a.s.sociated with diagnostic competence of clerks: an exploratory study. Acad Med Acad Med. 2001;76:10:S14S16. Hampton JR, et al. Relative contributions of history taking, physical examination and laboratory investigation to diagnosis and management of medical outpatients. BMJ BMJ. 1975;2:486489.

6 In recordings of doctor-patient encounters: In recordings of doctor-patient encounters: Beckman HB, Frankel RM. The effect of physician behavior on collection of data. Beckman HB, Frankel RM. The effect of physician behavior on collection of data. Ann Intern Med Ann Intern Med. 1984;101:692696.

6 In one study doctors listened: In one study doctors listened: Dyche L, Swiderski D. The effect of physician solicitation approaches on ability to identify patient concerns. Dyche L, Swiderski D. The effect of physician solicitation approaches on ability to identify patient concerns. J Gen Int Med J Gen Int Med. 2005;20:267270. Marvel MK, et al. Soliciting the patient's agenda: have we improved? JAMA JAMA. 1999;281:283287. Rhoades DR, et al. Speaking and interruptions during primary care office visits. Fam Med Fam Med. 2001;33:528532.

6 In these recorded encounters: In these recorded encounters: Beckman HB, Frankel RM. The effect of physician behavior on collection of data. Beckman HB, Frankel RM. The effect of physician behavior on collection of data. Ann Intern Med Ann Intern Med. 1984;101:692696.