“I did.”
“Tell me exactly what she said.”
“She didn’t think it was depression or menopause. She didn’t really have an explanation. She thought I might not be getting enough sleep. She wanted to wait and see me in a couple of months.”
“See, you’re just not taking care of yourself.”
“She’s not a neurologist, John. I get plenty of sleep. And that was in November. It’s been a couple of months, and it’s not getting any better. It’s getting worse.”
She was asking him to believe in a single conversation what she had denied for months. She started with an example he already knew.
“Remember I didn’t go to Chicago?”
“That could happen to me or anyone we know. We have insane schedules.”
“We’ve always had insane schedules, but I’ve never forgotten to get on a plane. It’s not like I just missed my flight, I completely forgot about the conference altogether, and I’d been preparing for it all day.”
He waited. There were giant secrets he didn’t know about.
“I forget words. I completely forgot the topic of the lecture I was supposed to give in the time it took to walk from my office to class, I can’t decipher the intention behind words I write in the morning on my to-do list by the middle of the afternoon.”
She could read his unconvinced mind. Overtired, stress, anxiety. Normal, normal, normal.
“I didn’t make the pudding on Christmas Eve because I couldn’t. I couldn’t remember a single step of the recipe. It was just gone, and I’ve made that dessert from memory every year since I was a kid.”
She presented a surprisingly solid case against herself. A jury of her peers might’ve heard enough. But John loved her.
“I was standing in front of Nini’s in Harvard Square and had absolutely no idea how to get home. I couldn’t figure out where I was.”
“When was this?”
“September.”
She broke his silence, but not his determination to defend the integrity of her mental health.
“That’s only some of it. I’m terrified to think about what I’m forgetting that I’m not even aware of.”
His expression shifted, as if he identified something potentially meaningful in the Rorschach-like smudges on one of his RNA films.
“Dan’s wife.” He said it more to himself than to her.
“What?” she asked.
Something cracked. She saw it. The possibility of it seeped in, diluting his conviction.
“I need to do some reading, and then I want to talk to your neurologist.”
Without looking at her, he got up and went straight into the study, leaving her alone on the couch, hugging her knees, feeling like she needed to throw up.
FEBRUARY 2004
Friday:
Take your morning medications
Department meeting, 9:00, room 545
Return emails
Teach Motivation & Emotion Class, 1:00, Science Center,
Auditorium B (“Homeostasis and Drives” lecture)
Genetic counselor appointment (John has info)
Take your evening medications
Stephanie Aaron was the genetic counselor affiliated with Mass General Hospital’s Memory Disorders Unit. She had shoulder-length black hair and arched eyebrows that suggested a curious openness. She greeted them with a warm smile.
“So, tell me why you’re here today,” Stephanie said.
“My wife was recently told she has Alzheimer’s disease, and we want her screened for the APP, PS1, and PS2 mutations.”
John had done his homework. He’d spent the last several weeks buried in literature on the molecular etiology of Alzheimer’s. Errant proteins born from any of these three mutated genes were the known villains for the early-onset cases.
“Alice, tell me, what are you hoping to learn from the testing?” Stephanie asked.
“Well, it seems like a reasonable way to try to confirm my diagnosis. Certainly more so than a brain biopsy or an autopsy.”
“Are you concerned that your diagnosis might be inaccurate?”
“We think it’s a real possibility,” said John.
“Okay, first, let’s walk through what a positive versus a negative mutation screen would mean for you. These mutations are fully penetrant. If you’re mutation positive for APP, PS1, or PS2, I would say that’s a solid confirmation of your diagnosis. Things get a bit tricky, though, if your results come back negative. We can’t really interpret with any certainty what that would mean. About fifty percent of people with early-onset Alzheimer’s don’t show a mutation in any of these three genes. This isn’t to say that they don’t actually have Alzheimer’s or that their disease isn’t genetically based, it’s just that we don’t yet know the gene in which their mutation resides.”
“Isn’t that number more like ten percent for someone her age?” asked John.
“The numbers are a bit more skewed for someone her age, that’s true. But if Alice’s screen comes back negative, we unfortunately can’t say for sure that she doesn’t have the disease. She may just happen to fall in the smaller percent of people that age with Alzheimer’s who have a mutation in a gene not yet identified.”
It was just as plausible, if not more so when coupled with Dr. Davis’s medical opinion. Alice knew that John understood this, but his interpretation fit the null hypothesis of “Alice does not have Alzheimer’s disease, our lives aren’t ruined,” whereas Stephanie’s did not.
“Alice, does this all make sense to you?” Stephanie asked.
Although the context made the question legitimate, Alice resented it and glimpsed the subtext of conversations in her future. Was she competent enough to understand what was being said? Was she too brain-damaged and confused to consent to this? She’d always been addressed with great respect. If her mental prowess became increasingly replaced with mental illness, what would replace that great respect? Pity? Condescension? Embarrassment?
“Yes,” said Alice.
“I also want to make it clear that if your screening comes back with a positive mutation, a genetic diagnosis isn’t going to change anything about your treatment or prognosis.”
“I understand.”
“Good. Let’s get some information on your family, then. Alice, are your parents living?”
“No. My mother died in a car accident when she was forty-one, and my father died last year at seventy-one of liver failure.”
“How were their memories while they were alive? Did either of them show signs of dementia or personality changes?”
“My mother was perfectly fine. My father was a lifelong alcoholic. He’d always been a calm man, but he got extremely volatile as he got older, and it became impossible to have a coherent conversation with him. I don’t think he recognized me at all for the last several years.”
“Was he ever brought in to see a neurologist?”
“No. I’d assumed it was the drinking.”
“When would you say these changes began?”
“Around his early fifties.”
“He was blind drunk, every day. He died of cirrhosis, not Alzheimer’s,” said John.
Alice and Stephanie paused and silently agreed to let him think what he wanted and move on.
“Do you have any brothers or sisters?”
“My only sister died in that car accident with my mother when she was sixteen. I don’t have any brothers.”
“How about aunts, uncles, cousins, grandparents?”
Alice relayed her incomplete knowledge of the health and death histories of her grandparents and other relatives.
“Okay, if you don’t have any other questions, a nurse is going to come in and draw a sample of blood. We’ll send it off to be sequenced and should have the results within a couple of weeks.”
Alice stared out the window as they drove down Storrow Drive. It was frigid outside, already dark at 5:30, and she didn’t see anyone braving the elements along the edges of the Charles. No signs of life
. John had the stereo turned off. There was nothing to distract her from thoughts of damaged DNA and necrotic brain tissue.
“It’s going to be negative, Ali.”
“But that wouldn’t change anything. It wouldn’t mean I don’t have it.”
“Not technically, but it creates a whole lot more room for thinking this is something else.”
“Like what? You talked to Dr. Davis. He already tested me for every cause of dementia you could come up with.”
“Look, I think you jumped the gun going to see a neurologist. He looks at your set of symptoms and sees Alzheimer’s, but that’s what he’s trained to see, it doesn’t mean he’s right. Remember when you hurt your knee last year? If you’d gone to see an orthopedic surgeon, he would’ve seen a torn ligament or worn cartilage, and he would’ve wanted to cut you open. He’s a surgeon, so he sees surgery as the solution. But you just stopped running for a couple of weeks, you rested it, took ibuprofen, and you were fine.
“I think you’re exhausted and stressed, I think the hormonal changes from menopause are wreaking havoc on your physiology, and I think you’re depressed. We can handle all of these, Ali, we just have to address each one.”
He sounded right. It wasn’t likely that someone her age would have Alzheimer’s disease. She was menopausal, and she was exhausted. And maybe she was depressed. That would explain why she didn’t push back on her diagnosis harder, why she didn’t fight to the teeth against even the suggestion of this doomed fate. It certainly wasn’t characteristic of her. Maybe she was stressed, tired, menopausal, and depressed. Maybe she didn’t have Alzheimer’s disease.
Thursday:
7:00, Take your morning medications
Complete Psychonomic review
11:00, meeting with Dan, my office
12:00, Lunch Seminar, room 700
3:00, Genetic counselor appointment (John has info)
8:00, Take your evening medications
Stephanie was sitting behind her desk when they came in, but this time, she didn’t smile.
“Before we talk about your results, is there anything you’d like to review about any of the information we went over last time?” she asked.
“No,” said Alice.
“Do you still want the results?”
“Yes.”
“I’m sorry to tell you, Alice, you’re positive for the PS1 mutation.”
Well, there it was, absolute proof, served straight up, no sugar, no salt, no chaser. And it burned all the way down. She could go on a cocktail of estrogen replacement, Xanax, and Prozac and spend the next six months sleeping twelve hours a day at Canyon Ranch, and it wouldn’t change a thing. She had Alzheimer’s disease. She wanted to look at John, but she couldn’t will herself to turn her head.
“As we talked about, this mutation is autosomal dominant; it’s associated with certain development of Alzheimer’s, so this result fits with the diagnosis you’ve already received.”
“What’s the lab’s false positive rate? What’s the name of the lab?” asked John.
“It’s Athena Diagnostics, and they cite a greater than ninety-nine-percent accuracy level of detection for this mutation.”
“John, it’s positive,” said Alice.
She looked at him now. His face, normally angular and determined, appeared slack and unfamiliar to her.
“I’m sorry, I know you were both searching for a way out of this diagnosis.”
“What does this mean for our children?” asked Alice.
“Yes, there’s a lot to think about there. How old are they?”
“They’re all in their twenties.”
“So we wouldn’t expect any of them to be symptomatic yet. Each of your children has a fifty percent chance of inheriting this mutation, which has a one hundred percent chance of causing the disease. Presymptomatic genetic testing is possible, but there’s a lot to consider. Is this something they’ll want to live with knowing? How would it change their lives? What if one of them is positive and one is negative, how will that affect their relationship with each other? Alice, do they even know about your diagnosis?”
“No.”
“You might want to think about telling them soon. I know it’s a lot to unload all at once, especially since I know you’re both still absorbing it yourselves. But with a progressive illness like this, you can lay out plans to tell them later, but then you may not be able to in the way you originally wanted. Or maybe this is something you’re going to leave to John to do?”
“No, we’ll tell them,” said Alice.
“Do any of your children have children?”
Anna and Charlie.
“Not yet,” said Alice.
“If they’re planning to, this might be really important information for them to have. Here’s some written information I gathered that you can give them if you want. Also, here’s my card and the card of a therapist who’s wonderful with talking to families who’ve gone through genetic screening and diagnosis. Are there any other questions that I can answer for you now?”
“No, none that I can think of.”
“I’m sorry I couldn’t give you the results you were hoping for.”
“Me, too.”
Neither of them spoke. They got in the car, John paid the garage attendant, and they made their way onto Storrow Drive in silence. For the second week in a row, temperatures were well below zero with the windchill. Runners were forced indoors to either jog on treadmills or simply wait for slightly more habitable weather. Alice hated treadmills. She sat in the passenger seat and waited for John to say something. But he didn’t. He cried the whole way home.
MARCH 2004
Alice popped open the Monday lid of her plastic days-of-the-week pill dispenser and poured the seven little tablets into her cupped hand. John marched into the kitchen with purpose, but seeing what she held, he spun on his heels and left the room, as if he’d walked in on his mother naked. He refused to watch her take her medications. He could be midsentence, midconversation, but if she got out her plastic days-of-the-week pill dispenser, he left the room. Conversation over.
She swallowed the pills with three gulps of very hot tea and burned her throat. The experience wasn’t exactly pleasant for her either. She sat down at the kitchen table, blew on her tea, and listened to John stomping through the bedroom above her.
“What are you looking for?” she yelled.
“Nothing,” he hollered.
Probably his glasses. In the month since their visit to the genetic counselor, he’d stopped asking her for help finding his glasses and keys, even though she knew he still struggled to keep track of them.
He entered the kitchen with quick, impatient steps.
“Can I help?” she asked.
“No, I’m good.”
She wondered about the source of this newfound stubborn independence. Was he trying to spare her the mental burden of tracking his own misplaced things? Was he practicing for his future without her? Was he just too embarrassed to ask for help from an Alzheimer’s patient? She sipped her tea, engrossed in a painting of an apple and a pear that had been on the wall for at least a decade, and listened to him sift through the mail and papers on the counter behind her.
He walked past her into the front hallway. She heard the hall closet door open. She heard the hall closet door shut. She heard the drawers in the hall table open and close.
“You ready?” he called.
She finished her tea and met him in the hallway. He had his coat on, glasses perched on his ruffled hair, and his keys in his hand.
“Yes,” said Alice, and she followed him outside.
The beginning of spring in Cambridge was an untrustworthy and ugly liar. There were no buds yet on the trees, no tulips brave or stupid enough to have emerged through the now month-old layer of crusted snow, and no spring peeper audio track playing in the background. The streets remained narrowed by blackened, polluted snowbanks. Any melting that occurred during the relative warmth of midday froze wit
h the plummeting temperatures of late afternoon, turning the paths in Harvard Yard and the sidewalks of the city into treacherous lanes of black ice. The date on the calendar only made everyone feel offended or cheated, aware that it was already spring elsewhere, and there people wore short-sleeve shirts and awoke to the sounds of robins chirping. Here, the cold and misery showed no signs of relenting, and the only birds Alice heard as they walked to campus were crows.
John had agreed to walk with her to Harvard every morning. She’d told him she didn’t want to risk getting lost. In truth, she simply wanted that time back with him, to rekindle their former morning tradition. Unfortunately, having deemed the risk of being run over by a car less than that of being injured from slipping on the icy sidewalks, they walked single file in the street, and they didn’t talk.
Gravel kicked up into her right boot. She debated whether to stop in the road to empty it out or wait until they reached Jerri’s. To empty it, she’d have to balance in the road on one foot while exposing the other to the frigid air. She decided to endure the discomfort for the remaining two blocks.
Located on Mass Ave about halfway between Porter and Harvard squares, Jerri’s had become a Cambridge institution for the chronically caffeinated long before the invasion of Starbucks. The menu of coffee, tea, pastries, and sandwiches written in chalk capital lettering on the board behind the counter had remained unaltered since Alice’s graduate student days. Only the prices next to the items showed signs of recent attention, outlined with chalk dust in the shape of a rectangular school eraser and printed in a penmanship belonging to someone other than the author of the offerings to their left. Alice studied the board, perplexed.
“Good morning, Jess, a coffee and a cinnamon scone, please,” said John.
“I’ll have the same,” said Alice.
“You don’t like coffee,” said John.
“Yes, I do.”
“No, you don’t. She’ll have a tea with lemon.”
“I want a coffee and a scone.”
Jess looked to John to see if there would be a return, but the volley was dead.