Reaching Down the Rabbit Hole (16 page)

Sometime later I caught up to Dr. Layzer to tell him how impressed I was, and he said, “Well, that’s what neurologists do.” In Denise Arduzzi’s case, what he did was to see what everyone else had missed: that her eyes rested downward and did not move when he rotated her head to one side and then to the other. He deduced from the hardwiring of the eye movement pathways that this must be a problem in the upper-and mid– brain stem and, ergo, a blockage of the artery that supplies it with blood.

That’s when I said to myself, “This is for me.”

7. THE BRAIN MAKES POETRY

In those days, medical students tended to be down on neurology. They called it a masturbatory specialty. You couldn’t do much of anything in the way of cure or even prevention, so you just sent patients back out on the street (“treat-’em-and-street-’em,” is how they put it). Everybody in my internal medicine residency program was appalled when I announced my intention to go into neurology. “What a waste of time! There’s nothing that you can treat.” Then I went to a talk given by my future mentor, who happened to be visiting the hospital. Raymond Adams, one of the greatest clinical neurologists of the twentieth century, gave an overview of where neurology stood in medicine, and, more importantly, where it was headed. I can remember his advice to this day:

Think about it: There are more diseases of the muscle, just the
muscle
, which is a tiny sliver of neurology, than there are all diseases of the lungs. There are more diseases of the spinal cord than there are of all diseases of the heart. There are more diseases of the white matter, not the whole brain, but just the
white matter
, than there are of all the rheumatologic and joint diseases. Neurology has more diseases and more complexity and more need for exquisite clinical analysis than any other branch of medicine. Take one little piece of neurology: there is more to it than in the totality of any other medical specialty. And yet lung disease and heart disease dominate our collective fears. Dermatology is the only field that has more diseases than neurology. There are a billion skin diseases, but only ten of them occur with any regularity. Whereas in neurology people may say, “Oh, it’s just a stroke,” well, strokes are a big proportion of neurological cases, but there’s so much else to it: What kind of stroke? Where did it occur? What caused it? To master all that is a lifetime effort. So if you really want to be
challenged instead of being bored in seven years, when you know all there is to know in your specialty, you may wish to consider neurology.

The brain-mind connection attracts many people to neurology initially, but that’s too facile a motivation. When I hear a student say, “I want to understand the mind,” I suggest they try psychoanalysis. Neurology is much bigger. Neurology isn’t a system that was invented to understand the mind, like psychodynamics. It’s the goddamned brain in all its messy glory. As another wise neurologist told me early on, “You want to be a nephrologist or a urologist? C’mon! The kidney? It makes urine! Who gives a shit? Now the brain—the brain makes poetry.”

8. MINDFULNESS

His name was Mack. He was a tall, wiry, gentleman in his late seventies, his face covered in seborrheic keratoses, those brownish, benign, raised, flat, dry spots that older people get. Even so, he looked quite distinguished, with almost a military bearing. He had shown up at the emergency room complaining of frequent falls, slurred speech, and repetitive muscle spasms that caused him to twist his arms and torso. That triad of symptoms is particularly hard to figure out. None of the emergency room people had a bead on how to start the case, so it was appropriate to admit him to the neurology ward, to watch him, to have several people examine him, and do some tests.

That was thirty years ago. I was four years out of my residency, working as a junior faculty member at Massachusetts General, leading a team of residents. We looked in on Mack and I talked to him at some length. He was not a military man, as it turned out, but owned a package store on the South Shore. He was a Rotarian, an avid golfer, and like me a ham radio buff. When I asked him to get out of the
bed, he moved slowly, holding his entire body like a block of wood while he stood at attention. That was telling. I turned to Nancy, my senior resident, and said, “I’ve seen this before, or something like it. He’s almost too formal in his posture. He has an axial dystonia. It looks like Parkinson’s, but instead of leaning forward, he’s unnaturally ramrod straight. See how he holds his head back? I think this man has progressive supranuclear palsy.”

Nancy, who was a very sharp cookie, turned to me and said, “How did you know that?” She was thinking that he did not have the cardinal sign of that disease: the loss of ability to look up and down.

I shrugged her off, convinced of the diagnosis, while wondering the same thing,
How
did
I know that?
I had to pause and remind myself that I was a professor, maybe only an
assistant
professor, but a professor nonetheless, and that I was rounding with residents who were five to eight years behind me. They were struggling as I once had, but it was as though I had only just now looked back and noticed that I was miles ahead of them.

Every doctor can recall a transcendent moment of arrival, a moment of breaking through the cloud cover, leaving behind the shaky confidence and self-doubt that hung over their residency and fellowship. In neurology, it takes four, five, sometimes seven years to make that transition, and once you make it, once you hit your cruising altitude, those below you in the fog might think you are performing diagnostic miracles. It is important to point out to them that you are not.

While I was still rounding with Nancy, a young woman, from a religious Jewish family, showed up at Mass General confused and sleepy, unable to feel anything on the left side of her body. This had been going on for four or five weeks. I liked her immediately. After her examination, I took Nancy aside and said, “She has a glioma in her thalamus,” in other words, a brain tumor. “This one’s a heartbreaker.”

“And how do you know
that
?” Nancy asked.

“Mindfulness,” I said.

Raymond Adams, who had hired me at Mass General, once examined a somewhat dissipated man with alcoholism and recurrent episodes of coma, someone who had recently developed speech abnormalities and clumsiness. He said, “Well, this has got to be hepatolenticular degeneration. But you know, when Kinnier Wilson described the condition in his seminal paper of 1912, he never really established the essential problem in the basal ganglia. Maybe we can get to it right now through this patient. What about these eye movements? What do you make of the way the man is standing? What about his speech pattern?”

He called the ward our laboratory, and said that it put us in a position to study the brain in a way that no other scientist could. I was struck by how actively he would listen to each patient’s account of a problem, how he would quite often say, “That
is
interesting!” not out of feigned interest, but of genuine fascination. What he was thinking, he would often tell me, was that there is no laboratory or animal model for the human brain beyond this. Here is an experiment of nature: What can this patient tell us about the human nervous system?

A middle-aged woman who suffered a complete loss of sensation on one side of her body due to a small thalamic stroke came to Mass General complaining of stabbing, burning, and aching pain on that same side. Adams wanted to understand how the thalamus—a small, central switchboard for the sensory system—works, and how it could produce this pain. He started by asking a series of questions that were quite imaginative, including, “Does sexual activity alter the pain?” He had a good reason for asking. He wanted to know how the limbic system influenced the functioning of the thalamus. The question caught me off guard, but it was brilliant. How else could you figure out how the nervous system works than by querying the nervous system itself? For Adams, there was always a bigger problem to be solved, both for the brain and for the patient. That was part of his mindfulness.

Not everybody has the physical talent to be a world-class tennis player or even a good club tennis player, to take just one example, but most intelligent doctors do have the capacity to be great diagnosticians. Yet if their training and subsequent work in the field do not continually excite them intellectually, and if they have no inclination to question the experiments of nature unfolding right in front of them, they won’t get there. Aptitude isn’t enough. To become a good clinical neurologist, you have to be intensely interested by what the brain does, how it works, how it breaks down. Raymond Adams would walk into a patient’s room thinking,
What am I going to learn now?
Because of that, he was able to synthesize hundreds and hundreds of cases, recall their essential features, and put them into diagnostic categories. Eventually, so was I.

That was the full answer to Nancy’s question, but I let it go at “mindfulness.”

9. NEXT PATIENT, PLEASE

In 1991 I left Mass General to expand a neurology department at St. Elizabeth’s Hospital in Boston. One day, a Chinese woman in her fifties was brought to the emergency room. She had been in a coma for a week, cared for by her husband, who thought that with herbal remedies he could get her to wake up. His name was Mr. Lau, and he spoke absolutely no English. His wife’s condition was critical. She had small pupils that would not react to light, she had Babinski signs (a worrisome toe reflex), and a body temperature of only 91 degrees. I added it up: she was Chinese, had hypothermia, had hydrocephalus, and despite her normal chest X-ray, I decided she must have tuberculous meningitis, with tuberculosis somewhere other than her lungs, and almost certainly brought over from China. She needed to have her ventricles drained, just like Mrs. G.

Mrs. Lau’s case had lain dormant in my mind until the resuscitation of Sofia Gyftopoulos, the woman whose code blue had caused me to miss a Red Sox game. In the aftermath of that code blue, Hannah had walked into my office for a debriefing. She was more deflated than distraught.

“The bottom line,” she said, “is that you saved her life. If you had not been there, she wouldn’t have gotten the mannitol, wouldn’t have gotten the drain, she probably wouldn’t have had the first shock in time, and she probably wouldn’t have made it.”

“And you’re wondering what you would have done?”

“I know what I would have done. Nothing.”

“That’s not true. You would have figured it out.”

“But not in time. It was humbling, almost to the point that I felt like I’m never ever going to be there. It made me almost think I might as well give up, because I can’t even imagine a day when that would happen, when I would walk into that room, and I would say this is what needs to happen, and I would be able to make it happen, and that person would end up living because of me.”

I told her about Mrs. Lau, about having seen a similar constellation of signs before. I told her that although I was right about that case—that it was tuberculosis, that it had spread and caused chronic meningitis—Mrs. Lau died despite all of our efforts, and despite draining her ventricles. My diagnosis was confirmed at autopsy. But it was because of that experience and others like it, because I had witnessed unusual, extraordinary cases, that I knew what was going on in Mrs. G’s head when she went into cardiac arrest.

“You’re not going to save everyone,” I told Hannah, “you’re not going to figure out everything. It’s part of the process. What you need to focus on is the far greater proportion of people you have pulled out of the fire, that you will pull out of the fire. Then you move on to the next case. Right now, you’re just trying to stay one step ahead, but don’t lose the opportunity to appreciate what the signs and symptoms
are teaching you about the brain. It’s to the patient’s benefit if you soak up the details, if you’re really into it. The farther away you get from the little details, from the fascination with what the brain does, the less of a clinician you will be. So just keep moving in that direction. Mrs. G was your Mrs. Lau. Now you know what to do.”

8

Endgame

Facing down Lou Gehrig’s disease

Louise Nagle had been kicking around doctors’ offices and emergency rooms for three months, complaining of breathing trouble while climbing stairs. She was referred to pulmonary and cardiac experts, who could not sort out the cause. Understandably frustrated, she came into the Emergency Department one night at about 8:00 after almost choking to death on a dinner of cubed chicken, peas, and rice.

Hannah was the senior resident on duty. When we entered Mrs. Nagle’s cubicle, we saw the trouble almost immediately: a flutter that can make your heart sink, a slight palpitation between the thumb and first finger that signifies degeneration of the motor nerves. In other words, ALS, or Lou Gehrig’s disease.

As Hannah and I stood over her bed, we could feel Mrs. Nagle’s distress. Her nostrils flaring like a racehorse’s, she was using every muscle in her shoulders and thorax just to breathe. Beads of sweat welled up on her forehead and cheeks. She looked vaguely like someone having an asthma attack, but as she grabbed the side rail of the
stretcher with her left hand in an attempt to sit up, I kept my eye on her right hand. It lay motionless on the sheet. If only it
had
been motionless. I don’t know why I looked, but I couldn’t help noticing the butterfly of doom flitting between her thumb and finger.

Fasciculations—the fluttering of small parts of a muscle, or what used to be called live flesh—are almost always benign. Virtually everyone has had the experience: small contractions around the eyes or the mouth, in the calf or the forearm. It happens when people are tired or they’ve had too much coffee or alcohol. Tending as they do to come in clusters over several days, these muscle flutters can reflect a patient’s self-involvement or their fear of illness. When that patient is a medical student or a physician, he (it’s usually a he) often becomes immobilized by the experience, and will either demand an immediate medical examination or simply hide in fear, hoping to cancel out a degenerative spinal condition by ignoring it. Although my evidence is entirely anecdotal, I have become convinced of two things: (1) physicians complain disproportionately of this symptom and are hard to persuade that it is benign; and (2) only the nicest people get ALS (thus immunizing a substantial number of physicians).

Benign fasciculations can lead to a cramp, but are unassociated with muscle weakness. They go away. The bad twitches, such as the one I saw in Mrs. Nagle’s hand, result from the dying of nerve cells in the spinal cord. They occur when a group of muscle fibers loses the connection to its controlling nerve cell—the dying cell—and an adjacent surviving cell then takes over control of those fibers. This new, larger, motor unit cannot easily be sustained by the single nerve cell, and becomes very unstable, producing the spontaneous contractions in the remolded motor unit.

Mrs. Nagle’s case was advanced enough, as evidenced by the muscle flutters and by her inability to easily move air in and out of her chest, that she herself would soon cease to be a fully functioning organism. That’s one way of putting it. I had to close my eyes for a moment and let her think that I was just tired, but seeing her husband
and two young children chilled me. Hannah and I performed a perfunctory neurological exam and affirmed all of the core features of ALS. The flickering muscles in her hand were shrunken, atrophic. There were fasciculations in her other hand. Her reflexes were all brisk, too jumpy for an otherwise healthy middle-aged woman, a sign that the nerve cells traveling from her brain’s motor cortex down to the spinal cord were also dying. It took a split second for me to suspect what was going on, and no more than two minutes to confirm it. Out of the corner of my eye I noticed that there was a multitude of other muscles that were twitching the same way. That, combined with her too-brisk reflexes, signaled damaged and dying motor nerves.

There is a constant physical and emotional distance that separates a doctor and a sick patient, as though a rising tide were filling a channel that lay between them. But that space is not entirely empty. It is filled with emotion—hers of anguish, mine of a welling sense of dread. As long as my dread remains hidden, I can muster the degree of calmness and patience that allows me to stay at the bedside and be effective. Knowing how high the tide will go, I can sometimes see that it will take my patient with it. At such moments I have the comfort of knowing that I will be going home to my wife, my kids, and my dog, with all of my faculties intact. With Mrs. Nagle, I had to remind myself that I could only be useful to this person by disconnecting myself from the pain to come. This willful mental posturing affords me the degree of internal quietness I need to stay at her side and let her fear fill all of the space separating us. It is a feeling that comes with some power, I suppose; it is a feeling that allows me to stake out a moment of existential peace for both of us.

How and when to tell her and her husband? Hannah gave me a look that said, “We have to tell them sometime.” I gave her one that said, “Do they really need to know all of this tonight?” There was no question of sending her home, where she would probably have a respiratory arrest or drown in her own secretions. But telling her that she had a progressive illness, which would be fatal in months unless she
committed to life on a ventilator, and if she did not, would likely entail an ugly death by gradual strangulation—breathlessness, air hunger, and emaciation—I decided that this was not an appropriate midnight discussion, and waved off Hannah’s signal.

Yet they had already been told what she did
not
have. It was not a lung problem, not a heart problem, and not asthma. It had been suggested that she was simply overanxious and overwhelmed dealing with two young children at home, and that she was probably hyperventilating. That would have been reassuring, but she now knew that she had something more serious than any of these comparatively desirable alternatives. There was nothing to be gained by shocking her further. I told her that this was likely to be a neurological problem, and that, at a minimum, we would be able to give it a name, that it was something we had substantial experience with, and that it could be managed. In other words, despite my best efforts, I said too much.

“Is it Lou Gehrig’s disease?”

“Well . . . that is certainly a possibility. Why do you bring that particular disease up?”

“I looked on the Web and it said that Lou Gehrig’s disease could cause muscle weakness, twitching, and sometimes make it hard to breathe.”

“The Web is usually wrong. Why don’t we wait and see.”

“But what if it is Lou Gehrig’s? What’s going to happen?”

“There are many ways things can go, so why don’t we just make you more comfortable tonight until we can sort it out.”

To my relief, the act of talking so exhausted her that she ended the conversation. How did she know? It reminded me of a ridiculous joke I’d heard on
The Sopranos
: “What are the chances that someone named Lou Gehrig would die of Lou Gehrig’s disease?” My next thought was that she was probably a wonderful person, and that this diagnosis rather cruelly proved it.

The following morning on rounds, as I stood facing her from the right side of the bed, I saw that she was breathing more comfortably.
One of the residents had given her a positive pressure mask typically used for sleep apnea. It reduced the work she had to do to breathe, and it let her get some sleep for the first time in several nights. She was exhausted nonetheless, and had the look of someone who could not decide whether she wanted to put up a fight. With the low, early morning light from Francis Street running diagonally across her body, it was now evident that virtually every muscle in her body was twitching away like an orchestra of fleas—“widespread fasciculations,” as we say. Despite this, her strength was reasonably preserved, which, unfortunately, only reinforced the diagnosis.

For two days I vacillated. Before I went to her with something akin to a legal verdict of ALS, I wanted an electromyelogram test to confirm the diagnosis. This was largely to reassure myself. Once I committed to it, it would be a very difficult diagnosis to withdraw. Such is the case with all fatal diseases: if the bad news you’ve delivered turns out to be incorrect, in my experience, the reprieve provokes a great deal of anger in the patient.

When the EMG came back I could read it in black and white: “Widespread fibrillation and fasciculation potentials including all four limbs and proximal and paraspinal muscles.” As Bette Davis’s neurosurgeon put it so succinctly in
Dark Victory
: “prognosis negative.”

Louise Nagle was an only child, the daughter of a prominent physicist. Born and schooled in one of Boston’s tonier suburbs, she had gone to Cornell, earned a master’s degree in city and regional planning, studied and traveled extensively in Europe, and had eventually returned to Boston. She had married in her midthirties, had come to accept the quotidian suburban normality, along with the dearth of the kind of wonder that she had previously experienced daily in a city like Rome. She became a self-described soccer mom, a self-assessment delivered with what I interpreted as an air of regret. Her own days as an athlete—a swimmer and a gymnast—were long gone. Her days as an artistic adventurer were, too. And now her days as a living, breathing person were running out.

“Louise, most of the evidence from your examination and EMG points to a problem called motor neuron disease.”

“You mean Lou Gehrig’s disease?” she whispered, more declaratively than interrogatively.

“Yes, it is a form of Lou Gehrig’s disease.”

“So it’s over?”

This time there was a question, and it had to be answered. She wasn’t stunned. She was expecting this diagnosis, but the lilt of her voice told me this was not a prepackaged reaction. It hadn’t sunk in yet, and it was my job to hold her hand while it did.

“No, it is not over. Not by a long shot. There are many things we can—that we
will
do—to keep you going, keep you at home, and make you comfortable.”

After assurances that we would not abandon her, and that things would be set in motion to provide the support she needed to be able to function at home and to participate in her family’s life, the tension dissipated, and Act I drew to a close. We discharged her. She went home with a considerable amount of paraphernalia for breathing assistance, a device for suctioning if she began to choke, and instructions for her husband about the Heimlich maneuver.

Within a week there was a frantic phone call on my office answering machine. “Doctor, my wife is strangling on food. What should I do?”

This was the beginning of Act II.

The call came in at 6:15 a.m., and my secretary, who arrives at 8:00, would not pick it up until about 8:15. By that time Mrs. Nagle was at a local emergency room, and the doctor there called me. “She’s actually fine,” he said, “just very anxious and tachypneic [breathing quickly]. Her chest is clear and she has no fever or sign of aspiration. She probably just had a little trouble getting some milk down and freaked out.” I asked whether he thought it appropriate to give her a bit of clonazepam for anxiety, and he agreed that it made sense.

The next week it happened again, and Mrs. Nagle went to the same emergency room. It happened two more times over the ensuing three
weeks. Each time I received a call, and after her fifth ED visit, this time at the Brigham, I asked the Nagles to come see me in the clinic at the end of the day. I began to suspect that her anxiety was causing more physical discomfort than the disease.

“I simply can’t breathe a lot of the time,” she said. “I feel as if I’m going to choke and then die. I’m so worried when I’m alone.”

“Are things getting stuck in your throat or chest, or are you just feeling as if you can’t get enough air?”

“Yes, that’s it. I can’t get enough air. I never feel as if I can expand my chest enough.”

“Which comes first, feeling anxious or the trouble breathing?”

“They come together. I can’t tell which is which, but I do think that I’m going to die.”

The fact that she could get a few consecutive sentences out without taking a breath indicated that her respiratory apparatus was working more than adequately, that there was no medical reason for the perception of shortness of breath. I listened to her chest with a stethoscope, and it sounded clear. She was breathing at about eight breaths a minute at rest. She accepted the notion that she had a disproportionate degree of anxiety about the current state of her illness, a level of fear pegged to the endgame rather than what was happening at the time. I decided to go out on a limb that only an experienced senior physician can climb onto.

“You are not going to die anytime soon.”

We talked about being aware of the anxiety and its effects, about controlling it with breathing exercises, about meditating in the morning. Her reaction, I explained, was understandable in the circumstances, but the disease was not the main cause of her breathing difficulty, not yet anyway. I told her that I didn’t think antidepressants would help at that stage. I did not mention that they might eventually come in handy. Things would get a lot worse.