When I was a kid, my parents, my big brother and I would pile into our old, battered station wagon and drive 12 hours across three states, no matter what the weather, to have Thanksgiving dinner with my grandparents.
Most of the memories replay in classic fashion. My grandmother would pass endless plates of food, my grandfather would tell jokes he'd been practicing all year, and we'd sit around the table until late into the night.
But the final moments of each trip stand out.
On Sunday, after Dad packed the car, and Grandma packed too many turkey sandwiches, we'd line up at the door for goodbyes. As she hugged each of us, my grandmother would whisper last-minute advice. She always had the same words for my mother:
"Check your breasts."
At the time, it didn't seem that unusual. She also strictly advised my father to "drive safely," my college-aged brother to "watch out for cults," and me to "beware of Catholic boys," so I didn't dwell on it. In hindsight, I understand that worries about breast cancer never left her mind.
My grandmother had reason to fear. As a young woman, she watched her mother struggle with the disease. Then she lost her sister to it. Years later, despite her warnings when three mammograms missed the lump she lost her daughter, my mother, too.
When my grandmother faced her own battle late in life, she never told me. I was living in Colorado Springs, she was still in Minnesota, and the geography between us made it easy for her to keep quiet. I suppose she may have simply been protecting me, but I've always wondered if she hoped that not speaking the words would make the cancer disappear.
I wish it were that easy.
A numbers game
We've all heard the statistics: Breast cancer will affect one in eight women during her lifetime. One in three women will get some type of cancer, and one in two men. Though the latter estimates include many less-deadly cancers, they still loom large.
For earlier generations, when the odds seemed closer to one in one for a family like mine, there was nothing people could do except keep a tally and cross their fingers. Then came the Human Genome Project, and the idea that our genes could give us clues about the future.
And, maybe, ways to change it.
When scientists introduced their plan, it sounded like an overzealous science-fair project: to unravel the mysteries of DNA by mapping the entire human gene sequence. But in 2003, two years ahead of schedule, they announced the project was complete. Researchers had identified the order of more than 3 billion chemical base-pairs that comprise the 20,000 to 25,000 genes that make us human. (We still don't know the exact number of genes because it will take more work to define where each gene ends and another begins.)
Along the way, they also began to identify mutations, or changes in the gene sequence, that could lead to specific diseases and disorders. Among these are mutations that signal an inherited risk of breast cancer.
"People mistakenly call these things the "breast cancer genes,'" says Jeff Shaw, an oncology genetic counselor at Penrose Cancer Center. "To me, that makes it sound like aliens abducted Grandma and implanted a gene that mysteriously causes cancer. They're really talking about genes we all have that, when damaged, lead to disease."
We can now find some of these damaged spots with genetic testing. More, in fact, are being found every day.
"Changing just one letter of code out of thousands on the BRCA1 or BRCA2 genes can raise a woman's risk from a 10 percent chance of getting breast cancer to as high as 85 percent," says Shaw.
According to his calculations, approximately 600,000 people in the U.S. are thought to have a BRCA gene mutation. So far, only 30,000 of these have been tested.
Shaw, who tests for about three dozen inherited cancer predispositions at Penrose Cancer Center, sees that changing. When he came to work for the Hereditary Cancer Service there a decade ago, it was the first in Southern Colorado and among the first in the country. In its initial three years combined, only 10 people received BRCA testing. This year, more than 100 will undergo testing, and numbers are climbing nationwide, too.
I'm aware of the trend when I go to my doctor, so I'm not that surprised when she looks over my family history, sees yet another relative with cancer, and suggests I think about the test.
That evening, after I schedule an appointment with a genetic counselor, I tell my husband about it. I'm kind of a science geek, so I get all excited and go on about genes and DNA and chromosomes.
"Isn't it amazing that we can look inside our cells and see into our future?" I ask him.
He replies: "I'm not sure I'd want to know."
Playing the odds
The genetic counselor and I sit in her office, sketching all that I remember of my family tree. It's a web of circles and squares noting who has had cancer, what type of cancer and their age at diagnosis.
"The first thing we look for is multiple cases of the same type of cancer," she tells me. "You've got plenty of that."
Of course, that's no surprise to me.
"Early onset is usually the biggest indicator that there may be an inherited risk," she says.
In families with a mutation, it's not uncommon to see women in their twenties and thirties with breast cancer. My family has had one borderline case, and a few I'm unsure about, but no one exceptionally young. I think it's not so bad.
"Multiple primary cancers in one person is another indicator," she says.
This time, we do find an example in my family tree.
"A rare cancer, like male breast cancer, and any case of ovarian cancer indicates risk."
That's a no. Another plus.
"People who are Ashkenazi [Eastern European] Jewish, those from Iceland and those from the San Luis Valley of Colorado have more risk." For me it's no, no and no. (More on this San Luis bit later.)
When we're done, though the evidence isn't overwhelming, the counselor says, "Something is going on in your family."
So I'm a candidate for testing.
We talk about how others in the family might react, how I might handle the stress of getting a positive test result, whether I have concerns about how my insurance company would treat the information. Then we talk about the medical options I'd have if I'm positive for a BRCA mutation.
In contrast to the amazing advances we have in testing, I can't help but notice how limited the treatment options sound. I've read about them already, but as she spells them out, my stomach knots.
There's preventive mastectomy (removal of the breasts); preventive oophorectomy (removal of the ovaries); preventive chemotherapy (drugs like Tamoxifen); and increased screening. The first three are intended to prevent cancer in high-risk patients, and the last only hopes to catch it early on.
This is the hard part to think about. Wanting to see into the future is one thing; living with the results could be another.
But before she can ask me if I want more time to think about it, I've come to a decision. Ever since my mother and grandmother died, I've assumed that one day I'd get breast cancer. Sure, the test results might confirm that I'm right. They could show that I'm wrong.
What have I got to lose?
The envelope, please
Four weeks later, while I'm watching an old re-run of The X-Files, I get the call. (With my new interest in genes, I'm watching the show solely based on the TV Guide description: "Mulder and Scully search to uncover the truth as a genetic mutation stalks victims in a Newark, N.J., sewer.")
On the phone, the counselor says my test results are in and she'd like to discuss them. For the rest of the day, I replay the phone call in my head, trying to decide if I can surmise from her tone what the news might be. She's good, though I can't find any clues.
When my husband and I get to her office, she says she wants to review the three possible results again.
The first is that the test will be positive, which will mean I've inherited a BRCA gene mutation from either my father or my mother. If this is the case, I'll know my risks: a 45 to 85 percent chance that I'll get breast cancer in my lifetime, with a 50 percent chance I'll pass it on.
The second possibility is a negative result, no known mutation found. This, however, isn't necessarily a clean bill of health, since we don't know whether an inherited gene caused my mother's cancer. If my mother had a known BRCA1 or BRCA2 gene change and I tested negative, that would mean she didn't pass it on. But if she didn't have a known mutation, something else in our genes could be causing the family's cancer. Because it's such a new science, we don't know yet if there are other mutations to be discovered.
There's a third, but far less likely result, she tells us. It's called a "variant of unknown significance," or VUS. This would mean they've found a mutation on one of my genes, but aren't yet sure what it means. It might cause an increased risk of cancer, or it might be as harmless as a typo in my genetic code. Only time (and more research) will tell.
I follow all the conversation, nodding my head to encourage her to carry on. My husband, however, has some questions, so I fidget and listen impatiently while she so very thoroughly answers. I suddenly remember all the times I took early peeks at Christmas or birthday presents, and now I know the punishment.
Finally, she is ready to hand it over. I look inside, and there it is in black-and-white. On my BRCA2 gene, they've found a VUS.
I show it to my husband and say, "Well, it's official. I'm a mutant."
Between a rock and a mastectomy
OK, it's embarrassing, but I'll admit it: Initial joke aside, I soon feel sorry for myself.
I'm frustrated that I have only results, when I wanted answers. I'm back where I started before the test as uncertain as ever. If they find that my gene change is harmless, surgery could be a mistake. If it's not, how long is it safe to wait? I want to know more.
I regress to a state of teenage angst. I think, "Nobody understands me. There's no one else like me. I'm a freak."
Then, suddenly, I'm done. Though I may have some uncertain risk, I realize I didn't test positive. I realize there are people fighting actual cancer. I realize some of them are losing the battle. I get a grip.
I go back to my doctor to talk about what I can do. She's honest and tells me she's never seen a VUS before.
Though she doesn't have any data to support a specific recommendation, she reminds me that I still have a family history. She adds MRIs to my mammogram schedule and emphasizes that I need to be doing healthy things like exercising, avoiding carcinogens and eating my veggies. In lieu of absolutes, she offers to send me to a breast surgeon, an OB/GYN and an oncologist.
"They may not have any clearer answers," she tells me, "but until we know what it means, the more hands on your breasts, the better."
That night at dinner, I repeat the doctor's comments to my husband.
"Well, as long as they aren't hands at the local bar, I agree," he says, and I laugh.
To show support beyond comic relief, my husband comes along as I make the rounds.
In the OB/GYN's office, we learn that although oophorectomy doesn't have the cosmetic issues of mastectomy, it's a surgery that throws a woman, no matter how young, into sometimes difficult or prolonged menopause.
On the plus side, removing ovaries alone can reduce breast cancer risk by half. It also reduces the risk of ovarian cancer, another issue in people with BRCA gene mutations.
Next, the oncologist tells us about Tamoxifen. It's a drug that has been used to treat patients with breast cancer, but it's fairly new as a preventive. When I hear that it increases risk of uterine cancer, which appears in my family, I don't need to hear more.
Finally, we visit the breast surgeon to learn about preventive mastectomy. It's the option most discussed for women with a high probability of breast cancer. She describes the incisions, the extent of the tissue that would be removed (as much as possible), and the healing process. She says the procedure involves the standard risks of surgery such as scarring and infection, and leaves many women numb from the waist up.
As she talks, my tears come. I fear the self-pity is back, but this time I find I'm thinking of my mom who, because of cancer, went through mastectomy twice. It's time to leave.
Later, I call Dr. Melody Paulishak, a surgeon with Memorial Breast Surgery Specialists, to find out exactly how the surgery can help.
"If there's a genetic factor involved, after mastectomy you reduce your risk to a 2 percent chance of having breast cancer," she explains. "When you don't have breast tissue, you can't get cancer in it. There is that small risk, however, because there are always a few cells that are left behind."
I try to pin her down about when she recommends the surgery, but she says, "It's very individualized to the patient. It's a difficult decision."
On the one hand, it seems outrageous to remove a healthy body part to prevent disease. If you had a risk of lung cancer, they wouldn't remove your lungs. If you had a risk of heart disease, they'd let you keep your heart.
But then I'm struck with an image of Aron Ralston, that hiker who got himself trapped in a canyon, his arm pinned by rocks. You probably saw him on the news a few years back. After waiting days for help with hope fading, he broke his own arm and amputated it with a pocketknife and came out alive.
Preventive mastectomy feels like the medical equivalent. It would take guts, but if it were the best choice, would I trade my breasts to save my life?
I'm tired of doctors, but the breast specialist recommends we visit a plastic surgeon who rebuilds post-mastectomy breasts. He offers lots of options to re-create what's been removed, but reminds me, "You could spend $1 million in reconstruction, but medicine will never give back the breasts you have today."
While I'm thinking about the risks, Mr. Comic Relief begins referring to my breasts as "million-dollar babies."
Gathered in FORCE
I'm cruising the Internet, still looking for answers, when I find a Web site for a group called FORCE (Facing Our Risk of Cancer Empowered). It's comprised of women with increased cancer risk or "pre-vivors," as they call themselves.
I complete the registration, then forget about it, until I get an e-mail announcing that FORCE is about to have its first Colorado chapter meeting.
A few days later, we show up at Danny Henderson's house with arms full of food. I'm happy to see that no one here appears to be a mutant.
After introductions, we share a meal on Danny's patio looking over the mountains, and tell our stories.
Erika, the Colorado FORCE outreach coordinator, speaks first. She admits she didn't think much of breast cancer most of her life, though her mother and grandmother both had it.
"I always thought, "People get it, then they have surgery and they're fine.'"
But then her older sister was diagnosed at 27 and died at 30.
"That was when we started thinking, "Wait a minute,'" she says.
She was tested at 25, along with a sister and her mother. They're all BRCA1-positive.
She has increased screening (mammograms and MRIs) but hasn't let her risk hurry her decisions about surgery.
"We had just gotten engaged when I found out, and I wasn't going to rush into having children," she says. "I think being an unprepared parent would be worse than having breast cancer, if that's possible."
Now she's the mom of a young toddler. "My breasts are busy right now," she says. Likewise, her ovaries, she adds: Her second child's due at Christmas.
Robin learned she might be at risk when she was 41 and her mother, recovering from breast cancer, tested BRCA2-positive. When Robin got the same result, she decided to have an oophorectomy to reduce her risk.
"Mentally and emotionally, I couldn't handle having my breasts removed," she explains. "It felt like my womanhood was being taken away from me, and I wasn't ready for that yet."
She sometimes considers the surgery, but knows that it would be more difficult now that she's developed diabetes.
"I have an MRI every year," she says, "and when it's clear, it's like buying another year."
Danny, 46, knew she could be at risk two decades ago, when her father was diagnosed with breast cancer. In the following years, she watched others fight it. When testing became available, she didn't hesitate. On the day she received her results, she went straight from the funeral of a friend who died of cancer to the genetic counselor's office.
"You know, I didn't cry one tear when I got my results," she says. "I had all these friends and family around me dying of cancer, so I really looked at my result as a gift. I could do something about it."
Danny made the decision to have a double mastectomy, along with a full hysterectomy (removing her uterus, fallopian tubes and ovaries).
"Because of all the friends and family that I had lost, it almost felt like a relief for me," she explains. "I feel cured."
She's even happier that her 19-year-old daughter has tested negative.
A few weeks later, Robin and I are talking on the phone when she says she has sad news. It's about the friend who invited Robin to the FORCE meeting, then couldn't make it. Just since our meeting, despite having had her breasts and ovaries removed years before, she has learned she has cancer.
"She did everything she could and she still got it," says Robin. Since the diagnosis, FORCE has stepped in to connect her with doctors at Cedars-Sinai, and Robin says that's a bright spot.
It's scary and sad, but it confirms why we're planning more meetings. And, as we hang up, Robin reassures me, "We're in this together, girl."
Medical science is an imperfect thing, but good or bad, it advances each day. It offers flawed solutions and incomplete answers, but I want to know what it might have in store. Every day, something new is announced.
For example, we continue to learn more about how to identify people who need testing. In his work as a genetic counselor, Jeff Shaw has helped uncover the increased breast cancer risk carried by many of those from Colorado's San Luis Valley. He and his colleagues have traced a founder mutation through family after family, back 18 generations, to a single Spanish ancestor. Their story will be featured in a future Smithsonian magazine.
Companies like Tissue Genetics, Inc., in Aurora are racing to create tests that can tell us more. One of those new tests will determine at the time of biopsy whether a breast tumor is caused by an inherited mutation. Even those who know little about their family tree could benefit.
Another test under development is part of a wave of tests designed to help cancer patients get the right drugs based on genetics.
"Instead of the old adage of every doctor saying, "Take two aspirin and call me in the morning,' it will be much more personalized," says Kimberly Gibson, Tissue Genetics' chief operating officer.
Identifying gene mutations and treating cancer caused by them is one thing, but I want to know if we will ever have a safe way to fix our damaged genes. Those who are researching gene therapy hope so. They are searching for ways to insert DNA into cells to correct mutations.
"Gene therapy is a ways off," says Shaw. "They've found a whole bunch of ways it doesn't work.
"But, eventually, they will. Then you're talking 5,000 inherited diseases that could be fixed the next day."
As we continue to decipher our genetics, we are discovering more and more about predicting disease.
"One day, we'll be able to run genetic tests on everyone and tell what their level of risk is for different medical conditions," says Shaw. "But here's the problem: Is it going to matter? Are they going to do anything about it? That's the real question."
I'm still unsure about what I'm going to do. But I remember Shaw's words: "There is no right decision. Only the best decision."
And as I get ready for Thanksgiving this year, I'm thinking not only about what the future holds, but about the past. When I gather with my family, my husband and daughter around our table, the people from my childhood won't be there.
But I know, when I see their faces reflected in my daughter's face, I won't be sorry for the genes they've given me. I'll be thankful for all they've passed along.
For information on Facing Our Risk of Cancer Empowered (FORCE), visit facingourrisk.org.
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