Every Patient Tells a Story (30 page)

Somewhat ironically, there is no test for polymyalgia rheumatica. Instead, tests are used to rule out other possible candidates, and a diagnosis is based on these tests and the patient’s constellation of symptoms. Bockenstedt explained why she felt the evidence for PMR was compelling. Carol Ann had a classic presentation of the disease. To begin with, women are four times more likely to get PMR than men. Carol Ann was older than fifty—the age group at highest risk of the disease (one of every two hundred women over fifty get PMR). Her symptoms came on suddenly and felt like an infection. Her pain was located primarily in the large supporting joints of the body—the shoulder and neck, hips, and knees. The spine and the smaller joints of the arms and feet are typically spared. And, of course, the X-rays and blood tests showed no signs of other rheumatologic disease or infection.

Carol Ann took in all of the information without speaking. If this was really true, then Dr. Davidson had been wrong and she had endured those months of nausea needlessly. She wasn’t quite ready to trust this new diagnosis,
even though she trusted Bockenstedt. She had also trusted Davidson. Plus she had read on the Internet that prednisone—the medication that Bockenstedt was suggesting—could worsen a hidden infection, if she had one.

“So you really don’t think I have chronic Lyme disease?” Carol Ann asked.

Bockenstedt paused.

This was dangerous territory. Bockenstedt knew from bitter firsthand experience that the “Lyme literate”—whether physicians or patients—could be ferocious in their attacks on doctors who were skeptical about this disease. She had trained at Yale and watched in 2000 as the “literate” protested outside Allen Steere’s lab. They shouted and carried signs accusing the onetime hero of Lyme disease of being a killer and a monster. He had been heckled and had even gotten death threats. Why? Because he agreed with the data. He stated publicly that no evidence supported the administration of repeated courses of antibiotics following an initial treatment for Lyme disease. And just last year when the Infectious Diseases Society of America had come out against the treatment of Lyme with months of antibiotics, ILADS charged the members with being in the pockets of the insurance companies who didn’t care about the patients and simply didn’t want to pay. (Bockenstedt’s vivid memories of the ad hominem attacks even made her reluctant to participate in my writing of this book, though in the end her commitment to educating the public won out.)

Bockenstedt therefore weighed her words to Carol Ann very carefully.

There was no evidence that Carol Ann had Lyme disease right now, she told her. None of the tests she had were positive by CDC criteria. In reviewing DeVries’s records, Bockenstedt noted that in the first two tests, done by Dr. Davidson, a couple of bands in the Western blot had been positive but not the five recommended by the CDC. And in the tests Bockenstedt had run, none of the bands had “lit up.” Carol Ann’s symptoms and the weight of the tests all convincingly pointed to polymyalgia rheumatica as the source of her ongoing symptoms.

“No,” she told Carol Ann. “I don’t think you have chronic Lyme disease. You’ve been through a lot, I know. But I think you can trust this diagnosis.”

Any doubts Carol Ann might have harbored vanished within days of
starting the treatment. The prednisone worked quickly and soon her joints were pain-free. After two years of insomnia, she finally slept through the night. Her flulike feelings disappeared. She could think, she could concentrate, she could remember. She felt like a new woman.

That was four years ago. Carol Ann stayed on prednisone for just over a year, tapering her dose slowly at the end as Bockenstedt recommended to let her body adjust. Since then she’s had one flare-up of the old symptoms, but a week or so of prednisone tamed the pain and eased the stiffness.

So, did Carol Ann
ever
have Lyme disease? Probably not, Bockenstedt told me, but it’s impossible to know for sure. Certainly by the time she’d come to Bockenstedt’s office she had no evidence of the disease. Her painful joints weren’t swollen—as they usually are in a Lyme-related arthritis. And none of the test results that Carol Ann had gotten for Lyme reached the level of confidence required by the CDC guidelines. It could be that Carol Ann was one of those in whom the Lyme bacteria were killed before her antibody defenses formed. Or maybe the rash that the ER doctor based his diagnosis on was a single hive, left over from her attack earlier in the week. Bockenstedt strongly suspects that, in fact, Carol Ann had suffered from PMR all along, but she is careful to acknowledge she can’t know for sure. Which is exactly how real diagnosis of real disease often works.

We have tools that are essential in the making of a diagnosis. You have the history. You have the physical exam. You have tests. Ultimately you have treatment. All pieces of the puzzle, all clues leading to the final diagnosis. Says Bockenstedt, “If I had treated Carol Ann with steroids and she hadn’t gotten better, I’d have to wonder—is this really what she has?” But the steroids did work—nearly perfectly. And so while Carol Ann had a good story for Lyme disease, her physical exam wasn’t consistent with that disease, her testing wasn’t consistent with that disease, and the treatment didn’t help her. “Seeing all this, I don’t understand how anyone could argue that Lyme disease is what was causing her all that pain,” Dr. Bockenstedt concludes.

Testing has changed how medicine is practiced. Doctors can now be far more certain of a given diagnosis with the help of tests than ever before in the long
history of medicine. But tests don’t make a diagnosis—thinking does. Better tests certainly make for better thinking and Lyme disease sure could use a better test. Until there is one, and possibly long afterward, concerns about missed diagnoses of Lyme and late diagnoses of Lyme will continue to be a source of confusion and contention for doctors and patients alike.

CHAPTER NINE
Sick Thinking

D
avid Powell sat quietly in the tiny emergency room cubicle. His muscular arms and chest were barely covered by the thin cotton hospital gown. He looked far too robust to be in the hospital, and yet this was his fourth emergency room visit in two months. “I’m losing my strength,” he explained quietly to Dr. Christine Twining, a young physician-in-training. “Doctors keep telling me I’m not having a heart attack. Okay, that’s good, I’m glad it’s not my heart. But can’t anyone tell me what
is
wrong?”

It had started a couple of months earlier, when twenty-seven-year-old David noticed that his hands and fingers felt numb. Then he started having chest pains—a strange tightness or heaviness that made it hard for him to breathe. That’s what sent David to his local emergency room the first couple of times. His mother had recently died of a heart attack and he was afraid he was having one too. Once the ER doctors heard his story, they too thought it was his heart. But at each visit the EKG was normal, the blood tests showed he wasn’t having a heart attack, and the stress test suggested he wasn’t likely to have one anytime soon. That was reassuring, but it wasn’t an answer.

As autumn turned to winter, David began to have a hard time keeping up at work—quite literally. He was a garbage collector and noticed that the short sprints from house to truck, which had been part of his daily routine,
now left him panting. And the cans he emptied were somehow heavier. His muscles hurt constantly; he had frequent cramps. By the end of the route, his arms and legs shook with fatigue.

“The guys would ask me what’s wrong, ’cause I’m strong, a weightlifter, and I was too ashamed to tell them I was getting weak,” David told the young doctor. “I’d just tell them I’d worked out at the gym real hard the day before.”

The truth was, he hadn’t been able to work out for weeks. He simply didn’t have the strength. There were other symptoms too: he was losing weight—twenty pounds in two months. And he was tired. After work, he’d nap, get up for supper, then go back to bed. He also had terrible constipation.

Then, just before Christmas, he was shopping with his wife and kept bumping into the shoppers crowding the mall. “I couldn’t make myself go straight,” he said. And his chest felt squeezed, as if he were wearing some kind of girdle around his rib cage. When he began to stagger that evening his wife insisted he go to the emergency room once more. During this visit, his third, there was another normal EKG, another normal set of blood tests, another doctor reassuring him and his wife that he wasn’t having a heart attack.

A week later, he almost fell off the back of his truck. “My fingers were so weak,” he said, “I couldn’t hold on tight. Just one bump and I would have been on the ground.”

That’s what brought David to the ER this time. As he told his story—his voice soft and level—he studied his hands, describing their disobedience: these days he had to use both hands to hold up his coffee cup; his handwriting had become a childish scrawl—barely legible even to himself; his fingers could no longer distinguish the coarse cotton of his work clothes from the smooth silkiness of his Sunday tie.

When David returned to the Emergency Department this time, the ER doctor had again gone for the EKG and the blood tests to look for evidence of a heart attack. It’s practically a reflex when someone presents with a chief complaint of chest pain. Still, as he reviewed the young man’s chart the doctor knew that these were unlikely to provide any insight into what brought
this guy back time after time. Emergency room physicians are trained to diagnose and treat life-threatening illnesses—true medical emergencies. For the majority of patients who come to an emergency room and do not have these immediate emergencies, ER physicians make another very important decision about their care: does the patient need to be admitted to the hospital or is this something that can be followed up as an outpatient? While this guy had one of the key symptoms we are all taught to attend to—chest pain—the ER physician thought that it was unlikely the usual chest pain workup was going to provide this man with the diagnosis he sought. So he asked Christine Twining, one of the internal medicine residents-in-training, to see him and admit him to the hospital so that someone could figure out what was going on. While it probably wasn’t an emergency, it seemed to him that this young guy really was sick.

Twining listened carefully to David’s story. He was so young and healthy-looking. What could be wrong with him? He was only twenty-seven years old; he didn’t smoke or drink. He lived with his wife and their six-year-old daughter. Although his mother had died at fifty-five of a heart attack, and two cousins had sickle cell anemia, the rest of his family was fine.

Physically he was massive. He was just over six feet and weighed 240 pounds—lifting weights had chiseled off most of the fat, so what was left was muscle. On examination there was no evidence of atrophy in the well-defined muscles, and while he easily passed the standard doctor’s-office tests of strength, Twining thought that was because those tests were not designed for someone with greater-than-average strength, like this young man.

He’d complained of numbness in his hands and feet. When Twining examined them they certainly looked normal, but when she jabbed them with the pointed instrument she used to test sensation, he couldn’t feel it. And when she tapped his joints with her small rubber hammer, the usual spontaneous jerk was completely absent. He had no reflexes. When she asked him to close his eyes and tell her whether she had moved his big toe up or down, testing one of our most primitive senses, he couldn’t even tell her that.

Then the doctor noticed a result from a blood test done on one of the patient’s previous visits to the ER: he had a low red blood cell count. Anemia
is unusual in an otherwise healthy young man. He had two very different symptoms—anemia and this odd weakness and loss of sensation. Were they linked? She couldn’t know based on the data she had so far.

She focused first on his loss of strength and the loss of sensation in his arms and legs: having both problems made it clear it was his nerves—and not his muscles—that were the problem. There were dozens of possible causes for this type of neuropathy: diabetes, alcohol abuse, syphilis, HIV, thyroid disease, cancer. But none really fit this patient.

Given his occupation, the doctor considered an unusual cause of this type of nerve damage: toxins. Could he have been exposed to some dangerous substance discarded thoughtlessly or illegally in the regular garbage? Arsenic could cause this kind of nerve damage; lead and mercury could as well. Moreover, these toxins could account for the anemia as well as the neuropathy, if they were in fact linked.

And what about the anemia? Had his low red blood count predated this new illness? Sickle cell anemia ran in his family, and although he had no symptoms of this painful disorder, could these chest pains be from this trait? He complained of abdominal pain: could he be losing blood in his stomach or intestines? It was possible, though his stools had not shown evidence of blood when tested.

The report from the lab described a few abnormal white cells in his blood: the cells contained irregularly shaped nuclei. This suggested he was anemic because of a nutritional deficiency. A diet poor in folate or vitamin B
₁₂
could cause anemia as well as this type of abnormal white cell. Moreover, vitamin B
₁₂
deficiency could cause neurological symptoms too. It’s easy to get adequate amounts of vitamin B
₁₂
in a normal diet, and it seemed very unlikely that this well-nourished young man could have such a deficiency. But the doctor needed to be sure because the body can’t make its own vitamin B
₁₂
and a true deficiency can cause permanent disability—even death. And treatment is easy and safe: replacing the missing vitamins usually reverses all the symptoms.