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A PECULIAR DISEASE OF THE CEREBRAL CORTEX
The dementia of Alzheimer’s disease is typically gradual in onset, so insidious that families and afflicted individuals may not recognize the disease until glaring deficits have appeared.
—Valerie Denisse Perel, “Psychosocial Impact of Alzheimer Disease,” JAMA, 1998
“WHAT’S THE DIFFERENCE between dementia and Alzheimer’s disease?”
That was the Harrisons’ first question to me after I told them Mrs. Harrison had dementia and the most likely cause was Alzheimer’s disease. He asked. She nodded. She was characteristically silent for much of the visit.
This question is the most common question patients and their family members have. It’s as if this disease that causes a person to repeat questions because she forgets the answers were having fun with us.
Dementia, I explained, describes progressive impairments in cognition that cause problems with day-to-day function. Alzheimer’s disease is one of several diseases that cause dementia. When I saw the Harrisons in 2010, I was following a strict rule set forth in diagnostic criteria written in 1984 by an expert panel of neurologists.1
No dementia. No Alzheimer’s disease.
“And how’s dementia different from aging?” he asked.
Cognition does change with aging, I explained. Quite slowly. Much of the change is in the speed of thinking and deciding, annoying to be sure and sometimes the cause of mistakes, but not disabling. A person with dementia, in contrast, has months to years of progressive declines in multiple cognitive abilities. These declines cause them to have troubles performing their usual and everyday activities. “Cognitive abilities” describes the workings of our brain, such as recalling new information (memory), naming things (language), and switching between activities (multitasking). Usual and everyday activities are the stuff of life, such as logging on to the computer, ordering a gift, and, later, traveling to a restaurant to present it to a friend.
Much of what I needed to diagnose whether Mrs. Harrison had dementia came from the history of her day-to-day life. Her repetitious questions were an example of problems with short-term memory. Her problems balancing the checkbook were an example of problems with executive function and calculations.
To be sure, the cognitive tests were valuable. They helped to firm up the diagnosis and identify the particular disease that was causing her dementia. The history, though, is key. I tell trainees: “Nine-tenths of the work-up is the history.” I organize this history along three themes.
The first is difficulties performing the usual, everyday tasks the person once performed effortlessly, such as taking medications or traveling outside the home, and difficulties in making decisions, such as whether to take a medication. In Mrs. Harrison’s story, what stood out to me was problems with finances and baking Thanksgiving pies she was so noted for. These are cognitively demanding activities.
The second is changes in behavior and mood. Among the earliest and most common of these symptoms is apathy, a term describing fading initiative and conscientiousness. Many days, Mrs. Harrison seemed content to sit and do little. Other common changes are anxiety, depression, and false beliefs, or delusions. These symptoms vary in their frequency and intensity and, if they occur, like the moon, they wax and wane over the course of the disease.
The third theme is the loss of remote memory, or autobiography, the knowledge about one’s self, your story, such as where you grew up, your first love, the birth dates of your children. This occurs in the later stages of the disease.
These themes are conveyed through histories that are typically quite vivid, routinely deeply personal, and sometimes very tragic (I once diagnosed a woman whose grandchildren scammed her of tens of thousands of dollars). Together, the histories form a kind of literature of the decline of a person’s ability to self-determine her life. There is a word for this ability: “autonomy,” meaning self-rule, from the Greek autonomos (having its own laws). Dementia in a sense is a disease of autonomy, and the lives of persons with it are an extended conversation over a question: “What’s a good life when you’re losing your ability to determine that life for yourself?”2
As a physician at a memory center, I write histories about the slow abridgement of the self. I begin this with the questions: “What’s the problem? How can I help you?” Mr. Harrison’s answers were all too common. “Memory problems” and then he launched into a plaintive story of their years of searching for answers.
Questions are my diagnostic tools. All I need is a clipboard, paper and pen, and the time to listen. Among my most powerful tools is a four-word question: “What’s a typical day?” Upon administration, it elicits the story of a brain interacting with its world. Mrs. Harrison’s day seemed normal, but it wasn’t like it used to be. She was reading magazines not books. She was still cooking but not as well as she used to. Mr. Harrison had taken over the finances. This vivid account was the disease talking through her, a kind of slow entropy of her consciousness.
I used her history not only to diagnose her with dementia and determine that the cause was Alzheimer’s disease but also to stage the dementia. When I met Mrs. Harrison, she was in the mild stage because her problems were largely confined to troubles performing the activities we undertake to maintain our house and home and to live well in it, such as cleaning and cooking, managing money and medications, using technologies like the computer or television remote control, and using transportation such as the bus. These are what we elect to do to flourish and live life as we choose. She was experiencing troubles with some of these, but she was still performing as usual on others. In a casual conversation, she seemed fine.
The moderate stage of dementia is characterized by consistent troubles with most of these activities. At this stage, the person had transformed from an adult who managed more or less on her own to a person whose survival now depends on others. In the years to follow their new patient visit with me, Mr. Harrison told me of the progressive exchange of activities from her to him. She was less conversational. And, notably, she was increasingly unaware of her problems with memory and performing day-to-day tasks. As the moderate stage worsened, she began to need some help with what are called basic activities of daily living, what we do to begin and end a day, namely walking to the bathroom to use the toilet, washing and dressing, and then walking to the kitchen for breakfast. The first sign is often the need for reminders to change clothes.
Mrs. Harrison was in the severe stage when she needed more assistance with basic activities. She lost these in a stereotypical pattern. Her dressing became disorganized. She needed reminders to bathe and then help to bathe. Then her walking became slow and unsteady and she needed help with the toilet. In time, if Mr. Harrison didn’t spoon-feed her, the meal would be left cold and untouched.
Mr. Harrison pushed back when I labeled his wife as mild stage. “Her anger … it’s so disruptive. This has to be severe,” he countered. The count or severity of the emotional and behavioral problems is not factored in to staging, I explained. The focus is function and cognition because they best predict what to expect in the future and the time that will pass between diagnosis and death.
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The most common word people use when they talk about Alzheimer’s disease is “memory” or variations on it, like “memory loss” and “forgetfulness.” This is sensible. Alzheimer’s disease most commonly presents like Mrs. Harrison’s did, with bothersome problems with memory. She’d forget new information. If Mr. Harrison didn’t remind her of appointments, she’d miss them.
Memory is the earliest symptom because the hippocampus is often affected earliest by the disease. This region of the brain, so named for its resemblance to the mythical fishtailed horses that pulled Poseidon’s chariot through the seas, has a critical role in our ability to learn and remember new information. When Alzheimer’s begins here, it causes what my colleagues and I call the amnestic presentation of the disease.
Alzheimer’s disease can start in other places in the brain. The result is a history of dementia that begins not with forgetfulness but other cognitive problems. In addition to the common amnestic presentation, three other presentations of Alzheimer’s disease have been described.
One begins with vision problems. The patient describes frustrating months running through multiple eyeglass prescriptions in a vain effort to address troubles judging distances and reading. Another begins with problems with speech. The patient struggles to find words and uses more general terms, such as “thing” instead of the specific name for a familiar object. Finally, some stories begin with problems with attention, concentration, and problem solving. A patient will make mistakes paying bills. Early on, this presentation is perhaps the most difficult to diagnose because these symptoms are so similar to the age-related changes in cognition, that feeling of not being as sharp as one once was. Often, I have these patients return months later for a reassessment. Time tells whether the problem is the slow change due to aging or the fury of a disease.
Alzheimer’s disease is one cause of dementia, and because it is thought to be the most common cause, it has attained eminence over the other diseases that also cause dementia. In Lewy body disease, for example, the patient has vivid hallucinations, typically of animals or people, such as seeing a cat in the fireplace. A person with frontotemporal lobar degeneration—so named for the particular regions of the brain affected—has marked changes in personality.
These diseases are collectively called neurodegenerative diseases. This term describes their common feature. The brain’s complicated and elegant network of cells, called neurons, is dying, or degenerating. Pathologists describe the visibly shrunken brain they autopsy as “atrophied.” They’ll run their gloved finger over the brain’s surface and remark how much more space there is between the folds of tissue that make up the walnut-shaped organ. Next, they’ll slice up the tissue and, using a microscope, see missing neurons and the pathologies characteristic of the different diseases.
Not all dementias are caused by a neurodegenerative disease. Infections can cause dementia. In the nineteenth century, one of the most common causes of dementia was infection with syphilis. In addition to notable changes in mood and cognition, patients often developed trouble walking.
A careful history, tests of her memory and other thinking skills—or in a word her “cognition”—and a neurological exam provided me with most of the data I needed to diagnose Mrs. Harrison with dementia and that the cause was Alzheimer’s disease.
My confidence in her diagnosis was, however, only “probable.” The preamble to the section “Laboratory Assessments” in the 1984 Alzheimer’s disease diagnostic criteria advised me: “At present, there are no specific diagnostic laboratory tests for Alzheimer’s disease.” I could only make a diagnosis of “definite Alzheimer’s disease” when she died. Then, in addition to her history and exam, I would order a brain autopsy to look for the characteristic pathologies.
These diagnostic criteria—probable in life, definite in death—reinforce lurid metaphors of the disease as a mysterious, gothic horror story. Mrs. Harrison would have to die before I could tell her husband the cause of her dementia.
A PECULIAR DISEASE, DIAGNOSED IN A PECULIAR PLACE, AND IN A PECULIAR WAY
The memory center where I diagnosed Mrs. Harrison is, like the disease she had, strange. The physicians might be neurologists, psychiatrists, or geriatricians (a doctor who specializes in the care of older adults). There are psychologists and technicians who administer cognitive testing, nurses to review health history and medications and answer calls from the family, and social workers who educate patients and families and lead education and support groups for each.
Our space is unusual. The waiting and exam rooms have extra chairs to accommodate the patient and their family. There are windowless, austere rooms, minimalist spaces where, free of distractions, the technicians perform cognitive testing.
After I introduced myself to the Harrisons in the waiting room, I sent Mrs. Harrison off to that windowless room with the promise that I’d meet her later. Then I asked her husband to follow me to my exam room. We took our catty-corner seats at the small exam room desk. I pushed the computer screen out of the way, took up my clipboard and pen, and began her new patient visit.
“What’s the problem?” I asked him. “How can I help you?”
I don’t start with the patient. I start with the family.
My patients are adults, but to deliver the standard of care, my colleagues and I routinely violate their privacy and authority. To obtain a detailed and accurate history, we require patients to bring a close friend or family member. We instruct this person—not the patient—to fill out the details on the new patient assessment form. At the start of the visit, I routinely separate the patient from her family.
I do this because patients often minimize or even don’t recognize their disabilities. If I relied on Mrs. Harrison for her history, I might miss her diagnosis. In fact, she might not even come to a memory center, insisting that all is well.
Awareness of how cognitive problems impact daily life is often nuanced. This tends to mitigate the patient’s distress. One of my patients explained her emotions after the diagnosis. “In the beginning, I was very sad about this, but right now I’m just going with it. I’m doing the best I can. I’m going to have a positive attitude, but I’m not going to be a crybaby. I don’t want to go away. I want to do as best as I can.” Her experience wasn’t a denial of but rather living with the diagnosis.
Some patients interpret their problems not as a disease but instead as a disability. A patient told me: “I’m totally healthy from the neck down. I don’t feel like I have an illness. I feel like I have a disability. I don’t see myself as sick. I think I have a condition like a bum foot.” Her turning away from illness and disease and toward disability was a reframing. It allowed her to once again feel normal. I find her analogy to a physical disability fascinating. A person with quadriplegia, for example, needs devices such as a scooter or a wheelchair. A person with dementia also needs a device. We call it the caregiver.
Some family members new to this role gesture to the empty chair where their relative might sit beside them and confess they feel I’m turning them into spies. But I reassure them. This is the standard of care. What’s considered extraordinary practice elsewhere is, at a memory center, not peculiar but rather usual and ordinary practice.
The empty chair signifies endings and beginnings. For Mrs. Harrison, it was the end of being an older adult with a memory problem and the beginning of becoming a patient with dementia caused by Alzheimer’s disease. For Mr. Harrison, the empty chair marked the end of simply being her husband and the beginning of being her husband and her caregiver.
Some patients and caregivers complain about our practice. A caregiver once snapped at me: “Isn’t there some test you can do to figure out what exactly is going on? All we seem to do at a memory center is tell each other stories.” He might have added: “And wait until my wife dies to tell me what killed her.”
I understand his anger.
He and his wife came to me seeking a simple answer to a simple question: “Doctor, am I still normal?” Two hours later, I had subjected them to an unusual and invasive work-up. I intruded into their privacy, upended her authority, and challenged their identity and sense of being normal. My answer was definitive—you have dementia and you are her caregiver—but it was also uncertain. The cause is probably Alzheimer’s disease. Moreover, all my efforts in diagnosis led to comparatively meager treatments. The only medications I could prescribe were minimally effective drugs to palliate the symptoms. I possessed no treatment to slow the relentless losses in day-to-day function.
NOT ONE BUT TWO PATIENTS
In 2000, Dr. Arthur Kleinman’s professional and personal lives collided. The cause of his wife Joan’s bothersome problems with reading and a frightening, near catastrophic accident while running were not problems with her aging eyes. Kleinman, a psychiatrist and anthropologist at Harvard University, was renowned for his studies of how patients make sense of disease, how culture shapes those experiences, and the role clinicians have in eliciting these experiences. He was now turning his academic skills on his life and its new and disturbing roles. Joan had Alzheimer’s disease and he was her caregiver (hers was the visual form; the earliest symptoms are troubles organizing visual images).
He started publishing essays about his experiences caring for her. In time, he wrote a book, The Soul of Care.3 He came to see how the person with the disease and the person who cares for her essentially exchange roles. He concluded, “She is happy much of the time. It is me, the caregiver, who, more often, is sad and despairing.”4
Studies reinforce this. Patients consistently rate their quality of life and functional abilities better than caregivers rate the quality of life and functional abilities of the person they care for,5 and caregivers experience notable symptoms of anxiety and depression.6 The caregiver’s anxiety is a distinct and persistent preoccupation with the future. A wife explained to me: “If things could stay the way they are, that would be fine. I’m scared. I worry. I worry about the future and how to handle it physically.” Her words describe two other aspects of the caregiver’s illness experience: tasks and time.
The tasks of caregiving involve taking on the activities the patient leaves off. As the patient loses the ability to manage day-to-day activities and make decisions, the caregiver takes these up.
One of the most widely read books to educate and train caregivers is The 36-Hour Day.7 The title is sadly brilliant. Assisting or entirely performing either instrumental or basic activities of daily living, or both, encumbers a caregiver’s time. “Pills and bills,” a caregiver once lamented to me. The tally of hours spent providing this care (instead of other activities such as working, going to the gym, or being with friends) is estimated to be as much as 171 hours a month.8
One of the greatest advances in assessing the totality of the harms of Alzheimer’s disease occurred not in medicine coming up with some novel way to measure the suffering of patients or more nuanced ways to measure their impairments in cognition or day-to-day function but rather in economics and related social sciences. These outsider fields began to explore novel ways to think about, measure, and so talk about the experience of family members like Mr. Harrison and Dr. Kleinman.
They started with a word: caregiver. A search on the word “caregiver” in databases such as Medline or Google’s n-gram, which track year-to-year trends in words, shows a remarkable result. This term that is now ubiquitous was once upon a time—but not so long ago—unknown. Prior to the mid-1970s, “caregiver” doesn’t appear in scholarly writings. What was unspoken was unstudied. By 1980, however, the word “caregiver” appears and then becomes increasingly prevalent.
Why?
Copyright © 2021 by Jason Karlawish. Copyright © 2022 by Jason Karlawish
