Three weeks before my sister Marcy is diagnosed with breast cancer we are sitting at the breakfast table of the house in Montreal where we grew up, eating bagels and sipping coffee. We’ve left our children with our respective husbands for the weekend to join our parents and youngest sister Ellen for a mini-family reunion. It is a bright April morning and Marcy is telling me about her friend Paula, who is in the throes of a painful and potentially lifesaving dilemma. Paula has inherited a gene mutation, known as brca-1. This gene mutation puts her at very high risk of developing breast and ovarian cancer. She recently had a prophylactic hysterectomy. Her quandary now is whether she should have her breasts removed as well. Paula is a gynecologist and counsels women daily on difficult health choices, but making a decision like this herself seems a near impossible task.
We sit at the table, my sister and I, eating and reflecting. Marcy lives in Durham, N.C., and I live in Toronto, and the distance makes it difficult to see each other more than a few times a year. Sunlight streams in through the large windows behind us that offer a view of the leafy, hilled backyard we played in as kids. We relish the quiet of a child-free weekend and the luxury of spending a leisurely morning thinking only of ourselves. We speak about Marcy’s friend with interest and concern, but also at a comfortable distance.
“Why doesn’t Paula just get the mastectomy?” I ask my sister. “What’s the big deal?”
We are so untouched. Cancer is something that happens to other people. Our family is safe, we’re lucky. My mother and father are 70 and 78 respectively. They still ski every weekend, swim and do yoga through the summer months. We are a fit, active family. We are healthy.
Three weeks later I am back in Toronto in my kitchen making lunch. My husband is in the backyard with our two sons. It is a Thursday, just after the noon hour, and it is one of the first real warm days of the year. The boys have just filled up the inflatable swimming pool, and they are shrieking with glee. These are details that are etched in my mind.
My mother had called the night before needing to speak to me. But by the time I finished reading the boys their bedtime stories, getting them drinks of water and sitting with them until they fell asleep, it was late, and I forgot about the call. I remember it now, plunk myself down on the rust-colored couch and dial my parents’ number. My father answers.
“How are you?”I say.
He says, “Here’s your mother.”
It has always been my mother’s job to deal with the more serious family matters. Dread grips my chest. A moment later my mother comes on the line.
“What’s wrong?” I ask.
“Well, it’s not good news,” she answers.
“What?” I say, my voice rising with fear.
“Marcy has breast cancer.”
Even now, writing these words I have the same sensation I had then of that statement simply not being real. Of all of us Marcy especially has a joie de vivre, an abundance of energy and drive that is unstoppable and contagious. She has always been invincible, powerfully optimistic. And now, at 42, she has cancer.
“Oh my God!” I say, my face scrunching up in pain. Some protective shield slips down between me and the facts, and I just listen. I can remember the lack of inflection in my mother’s voice, her pause between one sentence and the next, a sudden lurch of blood from my chest to my mouth.
In the span of a few minutes something is blown open in me. I feel myself stepping over into another domain: the domain of “touched by cancer” from which one never fully returns. Even if the diseased cells are cut out, eradicated, zapped with drugs and radiation, there is always the fear of recurrence.
Over the next few days I find myself reliving a hundred times the exchange of those few words between my mother and me.
What’s wrong? Well it’s not good news. What? Marcy has breast cancer.
As the days go by and I absorb the news, I can’t talk about it without bursting into tears. I feel despondent, and unresponsive to the goings-on around me. I drop my kids off at school, then walk through my neighborhood in a kind of daze, looking at people and thinking, Your life is going on as normal and there’s just been a huge rip up the middle of mine.
The worst part is not being able to talk to Marcy directly. I leave her a couple of messages but she simply isn’t answering her phone. She is too overwhelmed to talk to anyone except her husband and our mother, who passes information on to me.
I am hungry for news. After the initial shock, all I want to know is how? where? why? when? What steps will Marcy need to take and how quickly? My mother speculates that there could have been a mix-up with the cell samples, a misinterpretation of the tissue analysis. After all, hadn’t Marcy breast-fed both her children for over a year, didn’t she excercise regularly and eat well? I can feel the terror in my mother’s voice, her bold attempt to mitigate truth’s stinging blow. She tells me she hasn’t been sleeping well. I too have been tossing and turning, my body filled with a kind of persecutory dread. Then I think of Marcy. She is the one whose breast has been invaded by cancerous cells. This is happening to her. I can’t even imagine the kind of nights she is having.
Marcy’s intial diagnosis is considered by her doctors to be the sporadic type of breast cancer that strikes roughly 12% of the general female population. None of her doctors think to test her for a brca gene mutation (brca-1 and brca-2 gene mutations each have slightly different risk factors). While these mutations are high among the Ashkenazi Jewish population, there are not many Jews in Durham, so it does not appear on her doctors’ radar. But Marcy has just spent a weekend with her friend Paula and so brca is very much on her mind. She tells her doctors she wants her dna tested — insists it be done, and fast. Her surgery is imminent, and while the cancer is only in her left breast, she knows that if she does carry the gene mutation she will opt to have both breasts as well as her ovaries removed.
Marcy’s doctors predict she has a 15% chance of being a brca mutation carrier. There is no history of breast or ovarian cancer in our family. There is, in fact, hardly any cancer at all, and so we feel confident that her dna will be normal. Three weeks after Marcy’s initial diagnosis I get a call from my sister Ellen. All she says is, “Marcy tested positive for the brca-1 gene mutation.” She doesn’t need to say more; we both know what that means. Ellen and I are 39 and 41, and both mothers of young boys. We each have a 50% chance of being a carrier.
In the following weeks, Ellen and I set up appointments in our respective cities to have our own dna tested. My parents also arrange to have testing done, though having survived into their seventies, they are not very worried about themselves. We each meet with a genetic counselor, get our blood drawn. Ellen and my parents will have the results of their dna testing in a month’s time, mine will take as long as three months.
What we learn during our consultations with the genetic counselors is that the brca-1 mutation is at least a millenium old. One thousand or more years ago a man and a woman had sex, a sperm met an egg, and a child was conceived. When this child was at the single-cell stage — the few moments when it was made of one mere cell — something happened to one of its genes. No one knows why — it is doubtful we ever will — but the A, G sequences in one of the brca-1 genes were deleted. The cell divided, copying the mutation onto every cell, the fetus grew and a baby was born. In each of its cells he or she had one good brca-1 gene and one broken one. This person grew up and had children, some or all of whom were carriers, and the mutation was, so to speak, off and running.
The brca-1 gene was discovered a mere 15 years ago by a group of researchers working collaboratively across the globe. We are all born with two brca-1 genes, but women who have a mutation in one of their brca-1 genes have a 50-to-85% lifetime risk of developing breast cancer and a 46% lifetime risk of developing ovarian cancer. The gene is passed down from parent to child; it is not clear whether this mutation occurred spontaneously in many communities or whether it happened once and spread. As well as being prominent in the Ashkenazi Jewish community, the mutation has been found in high numbers in Poland, Iceland, and certain parts of Scotland. Within these tight-knit communities there was not much tolerance for intermarriage and so gene mutations of many kinds flourished.
To date, no genetic intervention is possible. Women who carry this mutation basically have two options: they can undergo yearly breast MRIs and quarterly ovarian screenings or, more radically, elect to have prophylactic surgery in the form of a bilateral mastectomy and oopherectomy (removal of the ovaries) before the disease has a chance to start. Of the women who carry the brca-1 gene mutation, 30% of them opt for a bilateral mastectomy and 60% for the oopherectomy. The others choose to submit to a life of vigilant monitoring. Once a brca-1 mutation has been identified, there are devastating repercussions as offspring, siblings and cousins must be informed, tested, and, if found to be carriers, confronted with the same difficult decision.
Based on the information we gather, Marcy makes the painful decision to have a double mastectomy and both a hysterectomy and an oopherectomy. Later, from an altogether different source, we learn that Marcy’s breast cancer is typical of a brca-1 car- rier, manifesting pre-menopausally as small, multi-focal tumors. Disturbingly, none of her doctors was aware of this, and if she hadn’t insisted on the test she may have unwittingly placed herself in further danger, as recurrence of cancer in the remaining breast in brca-1 carriers is high.
Marcy’s surgeries go smoothly, and we wait anxiously for the pathology report to determine if her cancer has spread into her lymph nodes. The frozen section (a quick look under a microscope) taken during the surgery showed no signs of cancer, so we feel hopeful and confident. The worst is over. She’s come through the operation, her healing is underway and she is feeling optimistic.
On Wednesday evening, the day Marcy’s pathology report is due back, my mother calls. The minute I hear her voice I can tell the news isn’t good. She sounds like she’s just woken up with a migraine, or that she’s been mildly drugged. I feel my chest fill with pain. She tells me that during the more in-depth analysis they found a small spot of cancer on one of the three lymph nodes they had taken out. This is not the news we were hoping for. Marcy will have to go back for more surgery in a month’s time to have all the lymph nodes on her left side removed. She will also have to undergo chemotherapy, and after that she will be required to stay on an estrogen-inhibiting drug for five years. It also posits the terrifying question that we can’t really answer: has the cancer spread to other parts of her body?
As we wait for further news, my husband and I decide to take our boys away for the weekend. We drive out of the city to stay at a friend’s red-roofed stone farmhouse off a dirt road. After a week of crushing heat and city-wide smog alerts, the clean country air is a welcome change. We take a walk through fields of tall grass and come upon a small, bullrush-encircled pond where groups of frogs doze on the shore. We can hear the deep-throated croaks and the quick splashes as they dive into the water at our approach. The boys decide they want to catch a frog.
Under the warm sun the frogs are slow and sleepy so the boys have no trouble dipping their nets into the water and pulling up frog after frog, releasing each one back into the pond after a few minutes of scrutiny. One of the frogs the children catch is missing an eye. In its place is a sphere of sorts, an outline neatly etched into the side of its face where the eye should be. We study it. I remark to my husband that even out here, in the thick of nature, mutations happen. Is it the effects of the toxic acid rain that the wind carries to even the remotest of locations? Or is this just a random birth defect that befell this unlucky frog? We’ll never know, although scientists do perform frog counts these days as a litmus test, since frogs are particularly sensitive to environmental stresses. What they’ve been finding has not been good.
Later when the children are asleep and my husband is reading on the porch, I walk up the dirt road to watch the sun set. The air is warm and moist. A couple of mosquitos buzz around my head. I feel such an enormous sadness all through my body. It is hard to believe that it has only been a month since Marcy’s diagnosis. In that time she has had a bilateral mastectomy, has learned she is node-positive and will need months of chemotherapy, and Ellen and I have given dna samples to determine our carrier status. It all serves to remind me how life can change in an instant. Despite the beauty of the view, things suddenly feel unbearable. I am having moments every few days where I think, How can this be happening? How will I bear it? I watch a bird soar through the darkening sky, a cow lows nearby. I suddenly realize how tired I am. I turn and walk back down the road to the farmhouse.
The weeks go by slowly and then, less than two months after Marcy discovered she had breast cancer, the clinic in Montreal calls to tell Ellen and my parents that they have the results of their dna testing. They must receive the news in person, so they make an appointment for the following morning at 9:00 and promise to call me as soon as they know. The next morning at 9:30 I roll out my yoga mat. I will do a round of sun salutations and some forward bends, then some calming breathing exercises. I am aware of the time passing and worry that if the phone isn’t ringing the news mustn’t be good. I start assuming the worst. I decide the only thing to do is to call them, but as I get up to do so the phone rings. After weeks of bad news, we are finally given something positive. Ellen’s results show she is not a brca-1 mutation carrier. Neither is my mother. It is my father who has passed the gene down to Marcy, and because he is male he is in virtually no danger. (Only a very small percentage of male brca-1 carriers develop breast cancer, athough their risk of prostate and colon cancers is slightly elevated.) Ellen’s voice is light, we laugh giddily. For a moment we are happy and hopeful. Their appointment was so lengthy, she explains, because they were drilling the researcher on what he felt was the best treatment for Marcy. Our tone becomes more sober. With Ellen’s uncertainty about her own health out of the way, she has more energy to research possible treatments for Marcy. And the possibilities are numerous.
There are a variety of new drug therapies and many clinical trials underway, but most are still in the preliminary stages. It is unsettling to see that the more research we do, the more we understand that there is no single prescribed course of treatment, but many, with similar degrees of success. The definitive particulars of cancer remain a mystery. Marcy will be offered guidance regarding sequence and duration of care, intensity and kind of medication — but ultimately she is the one who has to make the final decision as to the treatment she wants.
After much deliberation, Marcy chooses the most aggressive kind of chemotherapy — a cocktail of highly potent chemicals administered intravenously every two weeks for four months. She is expected to go into sudden and irreversible menopause, she will lose her hair, she will lose bone mass and muscle density, she will have little immunity against common illnesses. In a word, it will be hell. But she has no choice. She wants to live.
After Marcy’s first chemo round I fly down to Durham to be with her. It is the first time I’ve seen her since her diagnosis. Much has changed about her. She is thinner, paler, despite the bright July sunlight streaming in through the windows. And she has no breasts. It is odd to see her looking flat-chested and skinny, but it has a familiar quality to it as well: this is what she looked like when she was 13. She was late to develop and had to endure the teasing associated with flat-chestedness. She asks if I want to see under her shirt, to see what having no breasts looks like. I am nervous, but I say I do. I want to be completely supportive of what she is going through. She lifts up her shirt and I see two long pink scars running horizontally across the places where her breasts used to be. It is much easier to look at than I’d feared. The skin around her incisions looks pinched and heavily tampered with, but I am amazed at how quickly the body is able to heal. She pulls her shirt back down. I know she is planning to have reconstructive surgery, a process that will take some months, and involve more pain. But she wants to feel normal. She wants to have breasts again.
After waiting almost three months, I finally get the call from Aletta, my genetic counselor, informing me she has the results of my dna testing. Her tone is neutral when we speak. I know she is not permitted to say anything over the phone so I don’t engage her in chit-chat, just quickly set a date to meet. For so long I felt sure I didn’t have the gene mutation. But all the waiting has done something to me. I feel nervous, worried, uncertain.
On the day of my appointment Alleta leads me into her office and we sit down. She asks if I’m certain I want to know the results of my test. I know, then, the news can’t be good. But of course I say yes, I do want to know.
“Unfortunately,” she says sliding a piece of paper toward me, “you are a carrier.”
I look down. I see my name typed neatly at the top of the page and below it the words brca-1: positive.
“Oh,” I say. After months of waiting for these results I feel oddly emotionless. It will take the next few days before the magnitude of what this means sinks in. I become absurdly clinical. We talk about the different kinds of mastectomies performed, the assortment of implants available to me, and how menopausal symptoms can effectively be mitigated by hormone replacement therapy. These are the things that will happen to my body. This is what will be cut into and removed, and the sooner the safer. I listen, taking notes, nodding attentively. I must have a breast MRI as soon as possible, then meet with the ovarian cancer clinic for more information on ovarian scans, blood tests and oopherectomies.
After an hour and a half I stumble back out into the sunlight of the bright August day and climb onto my bike. I pedal along the familiar streets in the direction of home. My body strains and pushes up the hills. It is the same body as it was yesterday — nothing about it has changed. I simply have one additional piece of information about an infinitesimally small part of it. And the repercussions of that are enormous. What if I didn’t know? What if I just never found out? Can’t I ignore it? But no. Marcy has breast cancer. This is real. To pretend that this means nothing would be foolish.
I stop on a quiet side street, turn on my cell phone and dial home. My husband is taking care of the boys, and for some reason I don’t want to see his face when I tell him the bad news. I suspect I don’t want to see pain and worry. Or pity. I am not yet ready to absorb the full meaning of what I’ve just learned.
My husband answers after a couple of rings. I hear the boys’ voices in the background, playing, laughing. I am minutes away from home. It seems foolish to be speaking over the phone.
“I have it,” I say. “I have the gene.”
“Oh, no,” he says. “Oh, Sarah.” I tell him I have some things to pick up at the health food store and will be home soon.
“Ride carefully,” he says. And it is true that I feel a bit unsteady, a little spaced-out. I feel different, suddenly, from everyone else. This is what bad news does. I am aware all at once that there are so many people suffering. Every day someone somewhere is receiving a piece of bad news, living with her own private terror. There is no protection from life. Invincibility is an illusion.
I have one female cousin on my father’s side. A second cousin, or a first cousin once removed. Later I call and ask Alleta what the chances are of her being a brca-1 carrier.
I hear her rustling papers. She is looking at my family tree.
“Twelve percent chance,” she tells me. “We would test her.” I make a mental note to myself to get in touch with this cousin, although not right away, not before I’ve had the chance to grasp more of this myself. But how does one inform someone of this?
I have two boys, but Marcy has a girl, who is just turning 14, just coming gently and beautifully into her womanhood. Medical law dictates that she can’t be tested until she’s an adult. Until then there’s no need for her to know about any of the possible genetic implications. Just last week Marcy called to tell me that her daughter asked her innocently, almost nonchalantly, “Is breast cancer hereditary?” Fortunately Marcy was prepared. Knowing her daughter as she does she had a sense this question was looming — imminent, even. She was able to stay calm, to answer honestly but sensitively.
“Some breast cancers can be hereditary,” she told her daughter. “But the good news is that there is so much research being done that by the time you grow up we’ll know much more about how to stop cancer before it even begins.” This could well be true.
For now, though, we are three sisters coming to terms with what has happened to our family: Marcy in Durham, Ellen in Montreal, and me in Toronto. Our story is unfolding still….
Sarah Byck is a writer and psychotherapist in private practice, living in Toronto.