Every Patient Tells a Story (27 page)

CHAPTER EIGHT
Testing Troubles

C
arol Ann DeVries felt like she was falling apart. A compact woman with a cheerful, round face and deep-set brown eyes, she had been healthy all her life. Then, just a few weeks after her fifty-ninth birthday, everything changed. Out of nowhere she got a rampant case of hives. A short course of prednisone cleared them up, but neither Carol Ann nor her internist could figure out where they’d come from.

Then, one Saturday morning, a few days later, she awoke feeling achy and hot, her throat was sandpaper, and she had an odd red rash near the base of her spine. Was this more hives? Carol Ann had a doctor’s appointment scheduled for the next week, but she felt too awful to wait. She drove herself to the emergency room of her local hospital.

The ER doctor took her temperature, looked at the rash, and briskly told her she had Lyme disease. “An antibiotic will clear it up,” he said, scribbling the prescription. “One pill twice a day for two weeks,” he told her, and he headed out the door. “Wait a second,” Carol Ann called after him. “Aren’t you even going to get a test to see if I have Lyme?”

“You don’t need it,” he told her, ticking off the items that supported his diagnosis. It was early summer, when Lyme is most common. She lived in suburban Connecticut—not too far from the actual town of Lyme, where the disease was first identified. And she had a big, round rash typical of those seen in the early stages of Lyme disease.

He acknowledged that her symptoms weren’t the classic headache and stiff neck, but, still, she had the fever and body aches. The odds were overwhelming that this was Lyme, he told her. “Besides, this early in the disease, the Lyme test wouldn’t tell us a thing.” Then he was gone, off to the next room, the next patient, leaving Carol Ann with his scrawled prescription and a feeling of uncertainty.

Every spring and summer some version of this story is repeated tens of thousands of times in states of the Northeast, Midwest, and northern West Coast. Often, as in Carol Ann’s case, the diagnosis will be made without a test, based on the patient’s geography and symptoms, and cinched by the presence of the typical rash, known as erythema migrans. The diagnosis will be appropriate and reasonable, but not definitive. And in Lyme disease, that uncertainty has proved to be a particularly noxious ingredient.

Carol Ann took the antibiotics as prescribed. By the following weekend she felt almost back to her usual self. For most patients with Lyme disease, a single course of antibiotics is curative. But if Carol Ann had had a simple case of Lyme disease, I wouldn’t be telling you this story. Instead, a few weeks later, Carol Ann developed pain and stiffness in her knees and hips. There was no swelling, no redness, just this strange reluctance in the joints of her lower body.

She went to her internist, who thought the symptoms were from Lyme disease. Untreated or inadequately treated, Lyme can attack the joints, causing pain, and usually swelling. He changed her to another antibiotic—doxycycline. She stayed on that for three more weeks but the stiffness continued. Her internist was baffled; he sent her to a rheumatologist. The rheumatologist wasn’t sure what was going on either. So she went back to her internist. “He fobbed me off on his physician’s assistant,” Carol Ann said. “I was practically crying over the phone because of the pain. I told the PA I couldn’t even sleep because the pain was so bad. She wasn’t very sympathetic.”

Carol Ann felt abandoned. Her doctor was a nice guy, she told me, but he clearly didn’t know what was causing her pain or what to do about it. She decided to take matters into her own hands. She talked to friends; she rummaged the shelves of her local bookstore; she cruised the Internet. Everything
seemed to point her back to her diagnosis of Lyme disease. She decided that she needed a Lyme specialist—someone who really understood the disease. So she set off to find one.

What Carol Ann didn’t know—couldn’t know—was that she was about to enter one of hottest controversies in medicine, a maelstrom of professional contention and confusion about Lyme disease, a controversy that would leave her in pain for two full years. Most patients believe that it is usually possible to determine what ails them with some kind of test—an X-ray, for example, or an MRI, or any of the hundreds and hundreds of blood and urine tests. If the test is positive, the patient may not be happy, but at least he believes he knows exactly what’s wrong: a fractured wrist-bone, asthma, a tumor, a heart attack. If the test is negative, then the patient believes the result at least proves he
doesn’t
have something, which can be a relief if what he thought he had was cancer or some other terrifying disease. Or it can be very frustrating—since often treatment and the possibility of cure depend on diagnosis.

Doctors too put a great deal of faith in the power of diagnostic tests. And mostly for good reasons. Tremendous strides have been made in our ability to identify a disease using advanced technologies of one kind or another. While the patient’s story and physical exam can often suggest a diagnosis, both doctors and patients like to see hard evidence—and that evidence usually comes in the form of results from some kind of diagnostic test.

But, as it turns out, tests and their results are not nearly as crisp and clear as many patients (and doctors) assume them to be. In fact, for all of their tremendous and invaluable power, the testing process can actually slow or sidetrack the diagnostic process in some cases—or derail it completely.

The complexities surrounding testing for Lyme disease have pitted doctors against doctors and led to a confusion bordering on chaos about the diagnosis of this common and highly treatable disease. The result has been a virtual epidemic of missed and mistaken diagnoses. Some patients end up suffering from undiagnosed acute Lyme disease. And hundreds—maybe thousands—of patients sick with other diseases are being “diagnosed” with a phantom illness and treated for a medical problem they don’t have.

——

To Carol Ann it made sense that these aches and pains could be linked to her Lyme disease—after all, she’d been fine until then. Plus, her doctor had thought the first round of antibiotics ineffective. Why would the second round be any better? She finally located a Lyme specialist in nearby Wilton, Connecticut. He didn’t take insurance—none of the Lyme specialists she called did—but his fee was reasonable and he was conveniently close.

By the time Carol Ann went to see the specialist, Dr. Matthew Davidson (not his real name), she was a wreck. Her body ached all the time. The joints didn’t look injured—there was no swelling or redness—but they hurt so much that even sleeping was difficult. She was exhausted, her memory was shot, she couldn’t concentrate, and normal daily frustrations often reduced her to tears.

Davidson is a general internist who has focused his practice on Lyme disease. A stocky man with thinning blond hair, he exuded a warmth and openness that impressed Carol Ann. She sat in his exam room and began to describe the symptoms that had taken over her life for the past year.

Davidson nodded his head as Carol Ann began to list her symptoms. Her illness was no mystery to him. Her presentation was classic, he told her halfway through her story. What happened to her was common—far too common, in his opinion. She was right to seek his help. The antibiotics obviously hadn’t worked; she hadn’t been cured of her infection, and as a result she now had something he called “chronic Lyme disease.”

Davidson explained that often an initial course of antibiotics doesn’t kill the bacteria that cause Lyme disease. The bacteria somehow manage to “hide” in the body, only to reappear and cause a host of symptoms that include joint pain, muscle pain, insomnia, and lack of concentration—all symptoms that Carol Ann had. Davidson said that her only hope was to take even more antibiotics. Maybe for a few more weeks, possibly for months, perhaps even for years, in the hope of finally eradicating the insidious bug and its symptoms. It could be a long process, he told her, but with his help she could defeat the infection and regain her health.

As Carol Ann left Davidson’s office that day, she felt more optimistic than she had since her symptoms had started. That mood wouldn’t last long.

The diagnosis that Carol Ann was given—chronic Lyme disease—is one that tens of thousands of patients have been given in the thirty-some years since Lyme disease was first identified. And a whole cadre of doctors like Davidson, who call themselves “Lyme literate,” assert a special expertise in what they claim is a chronic and insidious infection. But despite the claims of these physicians—and the sometimes fervent belief of their patients—“chronic Lyme disease” is almost certainly a phantom illness. Contrary to the claims of doctors like Davidson, there is little evidence that the bacteria that cause Lyme disease can persist in the face of antibiotics, causing the symptoms attributed to “chronic Lyme disease.” Furthermore, there is plenty of solid evidence that shows that long-term treatment with antibiotics will
not
cure whatever it is that ails those diagnosed with this syndrome.

Despite this evidence, thousands of patients continue to be prescribed months and sometimes years of multiple antibiotics in a desperate quest for relief. The danger of this diagnosis and treatment are twofold. First, it puts patients at risk of serious side effects from the powerful drugs that are used. Second, this erroneous diagnosis can postpone diagnosis and treatment of other diseases, leaving patients even worse off than when they started.

How can reasonable, well-meaning medical doctors such as Davidson continue to believe in this phantom and continue to prescribe treatments that don’t work? The answer has to do, at least in part, with the difficulty of diagnosing this complex disease. But it also is closely linked to a very human discomfort with the uncertainty when faced with a patient in pain and in need of an answer.

The Discovery of Lyme Disease

The discovery of Lyme disease is one of the great pieces of medical detective work of the twentieth century. In 1956, Polly Murray, a young artist and housewife in Essex, Connecticut, began to suffer an array of inexplicable health problems: fevers, rashes, joint pains, and fatigue. Her memory didn’t seem as sharp as it once was. She felt unfocused and found it hard to concentrate on her artwork. She went to her doctor. He was baffled. So were the
specialists she was sent to see. Several suggested that the symptoms were all in her head—a manifestation of some psychiatric illness.

By 1964, Polly, her husband, and four children had moved to the small town of Lyme, Connecticut, an affluent community wedged into the verdant countryside between the Connecticut River and Long Island Sound. By then everyone in the family was suffering from the same symptoms Polly had. Even the dog was afflicted. Visits to the doctor were frequent, relief was rare, frustration high.

Over time Polly discovered that other people in the area were experiencing the same constellation of symptoms. Together, sufferers in her town had racked up hundreds of doctor visits and seen dozens of specialists. No one had an answer. No one could explain what they had or why so many of them had it. Finally, in October 1975, Murray called the state health department to report the strange local epidemic.

The health department turned to Dr. Allen Steere, a Yale rheumatologist who had spent his first two years out of medical school working for the Epidemic Intelligence Service (EIS), the investigative arm of the nation’s primary public health watchdog, the Centers for Disease Control (CDC) in Atlanta. Steere asked Murray to come to his office in New Haven and bring her notes. Unlike many of the doctors Polly had seen, Steere showed a profound interest in her story. He collected the names of other people she knew who were suffering. Steere called each family on her list. They, in turn, gave him additional names, and eventually he compiled a list of twelve adults and thirty-nine children who had the same collection of symptoms as Polly and her family.

Steere immediately noted that the individual cases resembled juvenile rheumatoid arthritis. But that was a relatively rare disorder. What, he wondered, could have caused the clustering of so many cases of this uncommon disease in such a small area? He set out to discover what, if anything, the fifty-one individuals had in common.

The outbreaks were seasonal, reaching a peak each summer and then again in the fall. Based on that, Steere quickly focused on the possibility that this was some kind of insect-borne disease. But few patients remembered being bitten. And those who did described the appearance of the bite differently.
It took two years of hard work before Dr. Steere and his colleagues fingered a culprit. Steere remembers the day clearly: it was in the summer of 1977 when a young man walked into his office with a vial containing a tick he had found after a walk through the woods near his home. The hiker had never seen one like it. Neither had Steere. It turned out to be an immature
Ixodes scapularis
tick, a tiny black-legged arachnid, new to the region. Local insect census takers had been tracking the tick’s march across Connecticut. Comparing the location of Steere’s mystery cases and the areas invaded by the tick produced a geographical match.

The final piece of the puzzle remained a mystery until 1981, when Willy Burgdorfer, an entomologist for the National Institutes of Health, identified the corkscrew-shaped bacteria transmitted by the ticks that actually cause Lyme disease. It was a new bacterial species—and it was named in his honor:
Borrelia burgdorferi
.

The
burgdorferi
bacteria normally live in the blood of deer and various rodent species. As a larva, the
Ixodes
tick (commonly called a “deer tick”) takes a meal of blood from its animal host and, if the animal harbors the bacteria, gets a dose of
burgdorferi
at the same time. The bacteria don’t seem to bother the ticks. They just live quietly in the tick’s gut.

The tiny arachnid has three life stages—larva, nymph, and adult. At each life stage the tick takes only one blood meal. Most cases of Lyme are transmitted in the tick’s second stage. At that point the
Ixodes
tick is dark and tiny—about the size of a pinhead—and the tick can easily latch on to a passing human and find a quiet spot to attach itself and take its blood meal. In order to transmit the infection the tick needs to stay attached for at least twenty-four hours—which it can often do easily because it is so hard to see and the bite is usually painless.