Marker
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Keeping her hand over her forehead, Laurie dropped her eyes to her tray in front of her. She had hardly touched her food. Although her selections sounded appetizing when she got them, once she sat down, she realized she wasn’t hungry at all. Having no appetite was not usual for Laurie. She attributed it to the stress she felt about her upcoming meeting with the social worker and the inevitable news she was about to get. In some ways, she felt humiliated about being forced to see a mental-health professional.
When Laurie had arrived at the hospital forty minutes earlier, she’d first gone to Roger’s office, but he still wasn’t available. One of the secretaries had told her he was closeted with the hospital president. Laurie had then gone to seek out Sue, who was graciously willing to join her for lunch on short notice.
“Getting a call from one of the genetics lab social workers doesn’t necessarily mean your test was positive,” Sue said.
“Oh, come on,” Laurie complained. “I just wish the woman would have told me.”
“Actually, by law, they are not supposed to tell you over the phone,” Sue said. “With the new Health Information Privacy Act, phone reporting is frowned upon. Laboratory personnel can never be sure exactly with whom they are speaking. They could inadvertently give the information to the wrong person, which is what the new HIPA is supposed to prevent.”
“Why haven’t they sent you my results?” Laurie asked. “You’re my official primary-care physician.”
“I wasn’t, technically, when the test was ordered. But you’re right. I should have heard. At the same time, I’m not surprised. The walk-in genetics lab is just getting their act together. To tell you the truth, I’m surprised they didn’t require you to have a session with one of their specially trained social workers before they took your blood. That was my understanding of the proactive way they were going to handle things. You don’t have to be a rocket scientist to know that genetic testing is going to be upsetting, no matter the outcome.”
Tell me about it, Laurie thought to herself.
“What’s wrong with your food?” Sue asked, leaning over to look at it. “You haven’t touched a bite. Do I have to take this personally?”
Laurie laughed and gave Sue a dismissive wave of her hand. Laurie confessed to being not hungry with everything going on in her life.
“Listen,” Sue said, assuming a more serious tone. “If the BRCA1 test turns out to be positive, which obviously you expect, I want you to come right over to the clinic so I can get you in to see one of our top oncologists. Do we have a deal?”
“We have a deal.”
“Good! Meanwhile, what’s the scoop with Laura Riley? Did you get set up with a gyno appointment for your routine check?”
“I did. I’m set.”
Laurie glanced at her watch. “Oops! I’ve got to get a move on. I don’t want to be late. The social worker might decide I’m being passive-aggressive.”
The women parted ways in the hall. As Laurie climbed the stairs up to the second floor, the right lower quadrant discomfort came back, causing her to hesitate. She wondered why stairs tended to aggravate whatever the nuisance was that was bothering her. It was like what she used to call a “stitch” when she ran too much as a child. True to form, it faded after only a minute. Making a fist with her right hand, she tapped against her back. The idea had occurred to her that it might be kidney or ureteral pain, but the tapping did not re-evoke the discomfort. She pushed in on her abdomen but felt nothing abnormal. She shrugged and continued on her way.
The reception room of the genetics diagnostics lab was as serene as it had been on Laurie’s previous visit. The same classical music floated out of wall speakers and certainly the same impressionist prints hung from the walls. What was different was Laurie’s mind-set. On the first visit, there was more curiosity than trepidation. Now it was the reverse.
“Can I help you?” a pink-smocked receptionist asked.
“My name is Laurie Montgomery, and I have an appointment with Anne Dickson at one o’clock.”
“I will let her know you are here.”
Laurie sat down and picked up a magazine, flipping through the pages aggressively. She looked at her watch. It was exactly one. She wondered if Ms. Dickson was going to humiliate her further by making her wait.
Time crept forward. Laurie continued flipping through the magazine without concentration. She found herself getting progressively more anxious and more irritated at the same time. She closed the magazine and put it back on the table with the others. Instead of trying to read, she sat back and closed her eyes. By force of will, she calmed herself. She thought about lying on a beach in the hot sun. If she tried, she could almost hear the waves lapping against the shore.
“Ms. Montgomery?” a voice asked.
Laurie looked up into the smiling face of a woman half her age. She was dressed in a simple white sweater with a single strand of pearls around her neck. Over her sweater was a clean white coat. In her left hand was a clipboard tucked against her side. She had her right hand extended. “I’m Anne Dickson.”
Laurie got to her feet and shook the woman’s hand. She then followed the woman through a side door and down a short hall. She was directed into a small, windowless room with a couch, two club chairs, a coffee table, and a file cabinet. Centered on the coffee table was a box of tissues.
Anne motioned for Laurie to sit on the sofa. She closed the door and then sat down in one of the chairs, the box of tissues conveniently between them. Anne consulted her clipboard for a moment and then looked up. From Laurie’s perspective, she was a pleasant-appearing woman who could have been a mere college student in a work-study program rather than a person with at least a master’s degree and probably extra training in genetics. She wore her straight, medium-length, brown hair parted in the middle, requiring her to frequently sweep it off her face and tuck it behind her ears. Her lipstick and nail polish were a dusky red-brown color.
“I appreciate you coming in on such short notice,” Anne said. Her voice was soft with a slight nasal twang. “And I apologize again for having misplaced your folder.”
Laurie smiled, but she could feel herself getting progressively impatient.
“I wanted to give you some background concerning what we do here in the genetic diagnostics lab,” Anne continued. She crossed her legs and settled the clipboard between them. Laurie could see a small tattoo of a snake on the inside of her leg just above the ankle. “I also wanted to explain why you are talking with me rather than with one of our staff doctors. It’s purely a matter of time: I have a lot, and they have a little. What that means is that I can be with you here for as long as you would like and answer all your questions. And if I can’t answer them, I have immediate access to people who surely can.”
Laurie didn’t comment or change her expression while she silently ordered Anne to cut the fluff and just give her the damn results of the test. She leaned back abruptly, crossed her arms, and tried to remind herself that she shouldn’t blame the messenger. Unfortunately, Anne and the situation was irking her to no end. She particularly found the convenient box of tissues patronizing, as if Anne expected her to break down emotionally, even though, knowing herself, Laurie knew it was a possibility.
“Now,” Anne said after consulting her clipboard again and making Laurie feel as though she was getting a canned presentation. “It is important for you to know something about the science of genetics and how the field has all changed with the decoding of the human genome, meaning the sequence of all three-point-two billion nucleotide base pairs. But first let me say that you can interrupt at any moment if you don’t understand something.”
Laurie nodded impatiently. She couldn’t help but wonder how much Anne knew about nucleotide base pairs, despite how flippantly she mentioned them. Nucleotide base pairs are the portions of the DNA molecule that form the ladder part of the molecule, and their linear order is responsible for conveying genetic information.
Anne went on to discuss Gregor Men
del’s laws of genetics concerning dominant and recessive traits discovered by the monk’s work with garden peas in the nineteenth century. Laurie couldn’t believe what she was being subjected to, yet she didn’t interrupt nor remind Anne that she was dealing with a physician who obviously would have come across Gregor Mendel’s work in the course of her biological study. Laurie let the woman drone on about genes and how certain traits could be linked with other traits to form specific haplotypes that were inherited over generations.
At one point, Laurie even tuned the social worker out and concentrated on the woman’s tics, which included, in addition to the almost constant sweeping of her hair behind her ear, a sustained blepharospasm when she was making a point. But Laurie’s attention was drawn back to the woman when she started talking about single nucleotide polymorphisms, which she quickly began to refer to by using the acronym SNP. This was an arena of genetics that Laurie was not quite as knowledgeable about and had been learning about only recently.
“SNPs have become extremely important,” Anne said. “They are specific sites in the human genome where a single nucleotide base pair has changed by mutation or deletion or even more rarely by insertion. Between any two people, there is an average of one SNP for every thousand or so nucleotide bases.”
“Why have they become so important?” Laurie found herself asking.
“Because there are now millions of them mapped across the whole human genome. They now stand as convenient markers that are linked hereditarily to specific abnormal genes. It is much easier to test for the marker than to isolate and sequence the affected gene, although we generally do both just to be one hundred percent sure. We want to be confident we are giving our patients the correct information.”
“Right,” Laurie said irritably. Anne’s comment about abnormal genes had rudely yanked Laurie back to the reality of why she was having this conversation. It was not an intellectual exercise.
Seemingly oblivious to Laurie’s mind-set and after consulting her clipboard, Anne continued her monologue in her nasal twang. All at once, Laurie had had enough. Her patience came to an abrupt end. She uncrossed her arms and raised her right hand for Anne to stop speaking. Anne caught the cue, stopped in mid-sentence, and looked at Laurie questioningly.
“With all due respect,” Laurie said, trying to modulate her voice to sound calm, “there is one significant piece of information, which you either don’t have or have forgotten. I happen to be a physician myself. I appreciate this background material, but I assume that the real reason I am here is because you have the results of my test. I want to know what they are. So, if you could be so kind, I would like you to tell me.”
Flustered to a degree, Anne again consulted her clipboard. When she looked up, her blepharospasm was significantly more pronounced. “I didn’t know you were a physician. I saw the doctor title, but I assumed it was some other kind of doctor. It wasn’t down as an MD.”
“It’s quite all right. Am I positive for the marker for the BRCA1 gene?”
“But we haven’t talked about implications.”
“I am aware of the implications, and any other questions that I might have, I will direct to my oncologist.”
“I see,” Anne said. She looked down at her clipboard as if it might provide some help in what she was obviously finding as an uncomfortable situation.
“I don’t mean to sound unappreciative of your efforts,” Laurie added, “but I need to know.”
“Of course,” Anne said. She straightened up in her chair and looked Laurie in the eye. There was no blepharospasm. “You are indeed positive for the marker for BRCA1, which has been confirmed by sequencing the gene. I’m sorry.”
Laurie looked away with unseeing eyes while she bit her lower lip. Although she fully expected the news, she could feel tears amassing on the emotional horizon. She fought against it as a matter of principle. She was determined not to use the tissues on the table in front of her. “Okay,” Laurie heard herself say. She also heard Anne start to speak, but Laurie did not listen. Although Laurie was generally acutely aware of others’ feelings, under the circumstances, she didn’t care. She knew she was blaming the messenger to some degree.
Laurie stood up, gave Anne what amounted to a crooked smile, and headed for the door. With her palms as wet as they were, she had no intention of shaking the woman’s hand. She could hear Anne following her and calling her name, but she didn’t even look back. She crossed the reception area of the clinic with a determined step and walked out into the hospital corridor.
On the first floor, Laurie appreciated being surrounded by the surging crowds coming and going in the busy hospital. The anonymity provided an unexpected solace from her mental turmoil. There was a bench opposite the information booth, and Laurie took a moment to sit down. She took a deep breath. She was calming down. What she needed to do was decide what to do next. She’d promised Sue she’d come over to the clinic ASAP to set up an appointment with the oncologist, but as Laurie sat there, she felt the need for a more personal interaction. She thought of Roger and wondered if he’d be available.
The administrative area was close, and as the connecting door closed behind her, Laurie realized that she now preferred the calmness to the hospital lobby’s chaos. Her shoes didn’t make a sound on the carpet. Trying not to think about the reality of a genetic time bomb ticking away in every one of her cells, she walked down to the area of Roger’s office. One of the secretaries recognized her from earlier.
“Dr. Rousseau is in his office now,” the secretary said, looking at Laurie from behind her monitor.
Laurie nodded an acknowledgment and walked to Roger’s doorway. His door was ajar. He was sitting at his desk, going over paperwork. Laurie knocked on the jamb, and Roger looked up. He was dressed as he usually was at the hospital, in a freshly laundered, crisp white shirt. He had on a golden silk tie, the texture and color of which contrasted nicely with his craggy, permanently tanned face.
“My word!” he said, catching sight of Laurie and leaping to his feet. “I just left a message on your voicemail two seconds ago. What a coincidence.” He came around from behind his desk, and closed his door. Turning back to her, he gave her a quick hug and a kiss on the forehead. He didn’t notice that her arms stayed limp at her sides. “I’m so glad you are here. I have so much to talk with you about.” He turned his two straight-backed chairs around to face each other. He motioned for Laurie to sit, and he did the same.
“You can’t believe the morning I’ve had,” Roger gushed. “There were two more postoperative deaths last night, just like the previous four: both of them young and healthy.”
“I know,” Laurie said in a subdued voice. “I’ve already autopsied both of them. It was what I was called you about earlier.”
“And what did you find?”
“There was nothing: no pathology,” Laurie said in the same quiet manner. “They were like the previous four.”
“I knew it! I knew it!” Roger said, punching the air with a fist. He stood up and paced back and forth in his tiny office. “I called an emergency meeting of the morbidity/mortality committee this morning, despite our having just met two days ago. I presented the two cases as evidence that these past five weeks have been no more than a pause. I argued vainly that we have to do something. But, oh, no, we’re not to rock the boat, since the media might get wind of it. I have half the mind to make an anonymous call to the media so it wouldn’t be an issue, but of course I won’t. I even went into the president’s office after the meeting to try to convince him to change his stance, but it was like talking to the wall. I even managed to get him angry at me by what he called my ‘damned dogged determination.’ ”
Laurie watched Roger pace but couldn’t make eye contact. At the moment, the series of suspicious deaths at the Manhattan General was not what was on her mind, but she didn’t have the emotional strength to counter Roger’s current vehemence about them.
“And then, to make matters worse,” Roger added, �
�we had a homicidal mugging in our parking garage this morning. I mean, I’m starting to get a complex about all this. None of this happened before I came on board.”
Roger finally stopped moving and made eye contact with Laurie. His expression suggested that he was looking for sympathy, but it changed when he noticed hers. “Why the long face?” he asked. He bent over to look more closely, then quickly sat down. “I’m sorry. Here I’ve been ranting and raging and ignoring you, and you’re upset. What’s wrong?”
Laurie shut her eyes tightly and looked away. Roger’s sudden solicitousness reawakened the emotions she’d felt the moment Anne Dickson had given her the definitive news. She felt Roger’s hand on her shoulder.
“What is it, Laurie? What’s wrong?”
At first, Laurie could only shake her head, for fear that talking would release a flood of tears. She hated her emotionalism. It was such a damn handicap. She straightened up and took a deep breath, letting it out in a sustained huff. “I’m sorry,” she managed.
“You don’t have anything to be sorry about. I was the one carrying on like a selfish, insensitive brute. What’s happened?”
Laurie cleared her throat and began her BRCA1 saga, and once she started talking, she ironically got progressively less emotional, as if her professional persona was able to take over. She talked about her mother and her recent surgery and the fact that she was also positive for the mutated gene. She also mentioned her father’s advice to get the test. Leaving out Jack’s role, she described how she’d come over to the Manhattan General and had the blood drawn the day she and Roger had met. She then explained how she had successfully forgotten all about it until the call she had gotten that morning from Anne Dickson. She concluded by saying that she’d just come from an interview where she’d been told that she was positive for the BRCA1 marker and for the mutated gene itself, so there was no chance for laboratory error. She admitted she’d blamed the messenger, despite trying to avoid not doing so, and joked that she’d denied the poor woman the opportunity to ask her the quintessential therapist’s question: how Laurie felt about the news. Laurie ended by chuckling.