By Kevin Baker
If you had a fifty-fifty chance of carrying a mutant gene that causes a fatal brain disease, would you want to know?
Sometime about thirteen years ago, my mother’s brain began to shrink. The signs that something was wrong proliferated slowly, but as ominously as something out of a science-fiction movie.
My mother became unaccountably restless and unable to concentrate. She complained constantly that Larry, my stepfather, didn’t take her out anywhere, that they never did anything—although she could no longer follow the conversation at a dinner party and said things that other people found incomprehensible. She tried going back to work in some of the little tourist shops where she lived, in Rockport, Massachusetts. My mother worked most of her adult life, but now she couldn’t figure out how to run a cash register or follow the simplest directions. Each time, she was fired after a few days, returning home baffled and indignant.
She was becoming indignant a lot. She began to fly into a rage at the smallest frustrations, cursing at herself and at other people in words we never heard her use before. She started to drink as well, something else she had never done much before. My mother had been a classic half–a–glass–of–Champagne–on–New Year’s Eve drinker. Now she had to have wine every night, and even a little made her garrulous and belligerent.
It was as if every part of her personality was being slowly stripped away, layer by layer. The loving, gentle woman my sisters and I had known was being replaced by someone we did not recognize.
There were other things going on as well, physical changes. Her speech was often slurred, even when she was not drinking. Her movements became jerky and exaggerated, as if she could no longer fully control her limbs. She could not abide any restraints. During a drive one Christmas afternoon, I watched while she sat in the passenger’s seat, compulsively buckling and unbuckling her seat belt, again and again, for over an hour. She kept complaining about how it stuck against her body, as if she had never seen or used a seat belt before.
My youngest sister, Pam, and I persuaded her to see a doctor. Her primary-care physician thought she knew what was wrong and sent her to a neurologist to confirm it—but at the last minute my mother refused to keep the appointment. Instead she went on drinking and growing steadily more impatient with everything and everyone around her. She shoved a woman she thought was crowding her at an airport baggage carousel, swore at people over parking spaces.
Mostly she fought with Larry. When he tried to stop her from drinking, she became incensed, threatening to burn down the house they owned together or to blacken over the paintings he sold at a local gallery. Their fights became wild and vituperative. She accused him of being the one with a problem, of being a depressive, of stifling her. A certain mania seemed to come over her during these arguments. Once she did a sort of Indian war dance around him, challenging him to fight.
“I told him, if you want to fight, my family knows how to fight!” she told me. “You ain’t seen nothin’ yet!”
Around that time, I went to Boston to try to intervene. I remember it was a beautiful spring day and we were walking around Beacon Hill. She seemed delighted to see me, but all I could notice was how strange she acted. She hadn’t had a drink, but her gait was wobbly and her eyes looked glazed. She no longer seemed to understand how the stoplights worked. Repeatedly, I had to reach out and pull her back from walking straight into traffic. We strolled down into Boston Common, where a homeless guy on a bench made some innocuous passing comment to her. My mother, always the most private, the most dignified of people, stopped and twirled around, doing a little pirouette for the homeless man, beaming the whole time.
Soon afterward, Larry confronted her with an empty wine bottle she had secreted in their closet. She wrenched it from his hand and hit him across the face with it, cutting his nose. He needed stitches to close the wound, and while he didn’t press charges, my mother had to appear in court under the domestic-abuse laws. I hired a defense lawyer, who got her off with a warning, and finally we prevailed on her to go to a neurologist. This was a full eight years after we first noticed dramatic changes in her behavior. The tests revealed what her primary-care doctor thought all along: My mother was suffering from Huntington’s disease.
Huntington’s (HD) is a hereditary disease, its most illustrious victim the folk- singer Woody Guthrie. It’s caused by a defective gene that produces a mutant “huntingtin” protein. The protein is necessary to human development, but its mutant version produces an excess of glutamines, amino acids that begin to stress, then eventually kill the brain’s neurons. Huntington’s is also known as Huntington’s chorea, or “dance,” for the florid movements that are its most obvious symptom. But such movements do not afflict all sufferers, nor are they the illness’s most destructive characteristic.
Huntington’s is a “profound” disease, one of the few neurological disorders that attacks nearly every area of the brain, says Steven Hersch, an associate professor of neurology at Harvard Medical School and Massachusetts General Hospital, and my mother’s neurologist. It affects the cerebral cortex, where thought, perception, and memory are stored. It also shrinks the basal ganglia, which serves as a sort of supercomputer for the rest of the brain, regulating almost everything from movement to the input and output of thoughts, feelings, emotions, behavior. The result is what Hersch terms a loss of “modulation” and “a coarsening” of how we do just about everything—move, think, react. Huntington’s sufferers have trouble correctly reading emotions in others or even recognizing familiar faces. They no longer understand when their behavior is inappropriate, and have difficulty planning, organizing, and prioritizing. They can become both intensely angry and apathetic and indecisive.
“They’re losing possibilities,” says Hersch. “They’re losing the possibilities of things they could do, or think of, or want to do.”
Not the least of Huntington’s effects is what the knowledge of the disease does to its victims. There is no cure. Adult- onset Huntington’s usually afflicts individuals sometime between 35 and 55, although early-onset, or juvenile, Huntington’s can manifest itself before the age of 20. The disease commonly takes ten to thirty years to run its course, as body and mind slowly shut down and leave the sufferer all but inert. Before that happens, victims commonly die from major infections, pneumonia, choking, or “silent pneumonia,” as food goes down the wrong pipe.
Suicides are not uncommon, even among “at-risk” patients who have yet to actually ascertain that they have the disease. Depression is also frequent among such individuals. If one is faced with such a fate, denial can be a survival strategy.
“Often the people who do best are those who can wall it off and go on with their lives,” acknowledges Hersch. “It’s a very good approach in a lot of ways. The trick for people sometimes is to figure out when it’s in their best interest to drop the denial and gain knowledge that will help them.”
The test results devastated my mother. Before long she reverted to denial. She insisted that her test had produced “a false positive.” She told us that she had “the syndrome of the disease, but not the disease itself.” She told us that, somehow, she was “the control” in the test. But as her brain continued to shrink, she began to lose even these words. It became a little joke between us.
“Dearest, I don’t have this, you know,” she would tell me, very seriously, out of the blue. “I’m the—the … ”
“Yes, that’s it!” she would say, delighted.
“Mom, you can’t be the control if you can’t remember the word control,” I would tell her, and she would laugh, and I would laugh. But a few minutes later she would tell me again that she didn’t really have this, you know.
The fact that my mother had Huntington’s meant that I had a fifty-fifty chance of inheriting the gene—and thus the disease—myself. I didn’t like to look at this too directly. That was my own form of denial. I told friends and relatives that I would not take the genetic test that my mother had taken. What was the point, without a cure? It could only screw up my health insurance, and who wanted to live with such a fate hanging over their head?
But those 50-50 odds worked their own havoc. Eventually I found that I couldn’t help thinking about the disease whenever I had trouble coming up with a word or organizing an article. I noticed whenever my body flinched involuntarily. I became especially aware of how often I would drag one of my feet along the sidewalk, or how frequently my left arm would twitch. I took to holding my left hand out in front of me, trying to reassure myself by seeing how long I could keep it still—a better test for delirium tremens, I suppose, than Huntington’s disease.
“Would you stop doing that? You don’t have it!” Ellen, my wife, would tell me.
Yet I was sure that I could feel something deep inside me, something that I came to think of, a little melodramatically, as a stirring. Sometimes, lying awake in bed late at night, I was sure that I was only holding it back by force of will. I was certain that if I let go, I would begin to move compulsively, uncontrollably, just as my mother did now. The dance.
“I think I might have this,” I told Ellen.
I don’t think you do,” she said.
But her assurance was based on wishful thinking, or the sort of baseless conception one often has about someone else’s life. My wife didn’t want me to have the disease, and she thought of me as a lucky person, somebody who just wouldn’t get such a thing. Yet none of this mattered. In reality, unlike fiction, people’s lives don’t run according to some overarching narrative. We never suspected this disease was in my family before my mother was tested, we didn’t think of ourselves as shadowed by some sort of gloomy, gothic fate. But nonetheless, here it was.
I kept surreptitiously doing my little tests. Should I forget me, may my left hand lose its cunning….