Cancer Gene is Tie That Binds
For sisters, years of fear, blood tests, and mastectomies have paved the way for hope

In a haze of happiness, she forgets about the lump.

At 37, she is nursing her first baby, named for her father, in a bedroom whose walls she painted herself with suns and moons and stars. She is in a new marriage to a good man, in a sweet house on a small lake.

Her oldest sister, who lost both breasts to cancer, has been free of the disease for almost 20 years. And Amy Rauch Neilson is beyond the fateful age when breast cancer struck her mother. It is an inherited cancer she heard tends to strike earlier each generation.

She is sure she has dodged the family curse.

Don, her husband, owns a welding shop in Belleville, 3 miles from their home. It's called G.T. Fab & Welding. Most people don't know G.T. stands for "gentle touch."

He discovered his wife's lump in bed, a few nights before Valentine's Day, running his fingers over Amy's breasts because he loves them, and loves her, and worries about her, and knows she doesn't always pay her breasts the attention they deserve, the attention that their brand new family deserves.

Now, two years later, Amy's breasts are gone. They were surgically removed on Good Friday 2006.

That was 14 years after the Good Friday when her mother died, at age 53.

Both of Amy's breasts -- the one with a blueberry-sized tumor, and the healthy one, too -- have been replaced by pads plumped with salty water. Her nipples are the creations of a surgeon, using skin from under her arms, tattooed dark.

She's proud of them, and of the three surgeries that constructed them. "They're astonishingly good," she brags, although long, dark scars will remain for awhile.

She's proud of herself, that her spirits are back up, that she's open and honest and defiant in the face of a family legacy nobody would envy: the presence of a mutation on the BRCA1 gene that predisposes women to early, aggressive breast cancer, and ovarian cancer, too.

She and her two sisters share the gene in the same way they share their father's blond hair and their mother's devotion to the Detroit Tigers.

They grew up in its long shadow, which reaches back at least to their grandmother, who died at 46, and stretches into the future, too. It threatens Amy's 24-year-old niece, who has tested positive for the gene mutation, and her 13-year-old niece, frightened but too young to be tested.

Despite that, Amy is hoping to get pregnant again this spring. It's chancy: She's had to drop her anticancer drug, Tamoxifen, and postpone the removal of her at-risk ovaries. And, any child she and Don conceive has a 50-50 chance of carrying on the gene, its menace and its dilemmas.

Yet they refuse to test their imagined fetus.

"We'll take what we get," she says. If her grandmother, if her mother had been able to test their pregnancies for the gene, would she or her sisters be here today?

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'A household of secrets'

Amy talks about her ordeal and her new breasts as forthrightly as a woman describing her favorite meatloaf recipe.

"It's a story that needs to be told," she says. "I grew up in a household where we didn't talk about it, a household of secrets. I'm sure that those secrets were kept to protect me, out of love, certainly not malice. Yet, on many occasions, I knew something was very wrong, and that in itself is scarier than just knowing the truth."

A freelance writer, she is weeks away from finishing, through Antioch University in Ohio, her master's thesis in creative nonfiction. It is a manuscript she hopes to publish as a book called "A Matter of Life or Breasts."

For her and Don, that choice was an obvious call, although some have called it courageous.

"Courageous?" Amy scoffs. "I saw it as option A, the unthinkable, or Option B, have your breasts taken off. It's not courage to do what you have to do."

It seems extraordinary that every female in her family has carried the mutated gene. But family oncologist Dr. Dana Zakalik of Beaumont Hospital in Royal Oak says it isn't.

"If a parent has the gene, there's a 50% chance any of the kids will have it," says Zakalik. "Just because a lot of people already have it, that doesn't mean the next person won't."

Discovered in the mid-1990s on Chromosome 17, the gene, like its sister, BRCA2, is tough and powerful. If mutated, it raises a woman's risk of breast cancer to 85% to 88%, and of ovarian cancer to 40%. Men who carry it can pass it on to their children; for males, it slightly increases the risk of prostate cancer.

One in 400 American women carries one of the gene mutations. Most women who know they are carriers undergo double mastectomies and removal of their ovaries, even before cancer strikes, which is the path Zakalik generally recommends.

She calls hers "very good news work" because, these days, a woman with the gene can reduce her risk dramatically by freeing herself of the body parts prone to cancer.

Zakalik says very few gene-positive women take a wait-and-see attitude. "Most want to do everything possible. When I describe the option of prophylactic (preventive) mastectomies, they say, 'I don't care about my breasts. I just want to live.'

"It's young women Amy's age who are so comfortable, so at peace with this, with no emotional wrangling."

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A scare of her own

As a child, Amy wondered why her mother wore a bra beneath her nightgown, figuring out years later it was a prosthesis. She was 4 when her mother was diagnosed and had a mastectomy, but Amy wouldn't hear the words "breast cancer" or know their weight until one night, near adolescence, when she crouched at the top of the stairs eavesdropping on her parents.

Her mother, in tears, told her husband: "You don't know what it's like to know you're going to die, to live this way."

Phyllis Rauch lost her own mother when she was 9. She would be an only child, and didn't talk about her mother or her childhood. "I could see the pain on her face when I asked, so I stopped asking," Amy says.

All she and her sisters knew, from family friends, is that their grandmother died of "female cancer."

Amy often wonders: "Why, in the process of natural selection, has my family survived? Why are we still here when we're so fragile?"

Only Julie, the oldest sister, who lives in Florida now, remembers cheer in the household. Lisa, the middle sister, who worries about her 13-year-old daughter, can still hear her mother, at every bad turn of her health, insisting to her husband, "I have to give up; it's going to get me." Amy's image of her mother is of an often somber, silent person, resistant to smiling for photos.

At 19, Amy had a scare of her own, finding a lump and hiding in the basement in tears, refusing to go with her parents to a doctor. It turned out to be nothing, but the doctor urged her to take off her breasts, a concept she found horrifying, since she was perfectly healthy.

That same year, her mother's cancer spread to her bones and a nurse called on Christmas Eve to say she might not live another year. But, then, things got better.

Amy moved out, studying journalism at Oakland University. And her mother's cancer spread in ways she never knew until this month, when Beaumont Hospital sent her 212 pages of her medical records, documenting its invasion of her bones and esophagus.

Although Phyllis Rauch helped her youngest daughter choose a wedding gown in the spring of 1992, which Amy calls "some of the most beautiful moments of my life," she died three weeks before the wedding.

Some guests canceled their RSVPs, having just been to town for the funeral. And Amy endured the day.

It would set the tone for the brief marriage, unable to carry the weight of her grief and guilt: for never having had an intimate talk with her mother about her illness, for failing to realize how sick she was.

And, within three years, she would lose her father, at age 59, to Lou Gehrig's disease.

Disease seemed to stalk the family.

Years before, her oldest sister Julie, with a daughter not yet 2, was diagnosed with breast cancer at age 26. She underwent a mastectomy and six months of chemo that almost killed her. Three years later, she found another lump: another mastectomy, more chemo.

Her husband left her, unable to cope, before the first breast came off.

Julie told me by phone from her home in Stuart, Fla.: "When I found that first lump, the size of a golf ball, I knew enough to call my mom right away. She called her surgeon and he got me in that afternoon. That's when it started to hit me: My mom was young. Here I was, 26. ...What the heck?

"I think there was a click, click, click for all of us that, wow, there is certainly something going on in our family."

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So easy to forget

It's a simple blood test, available for the past decade.

A lab searches for mutations of two genes, BRCA1 and BRCA2. The possible mutations to those genes number in the thousands. The one in Amy's family is called BRCA1 IVS13+1G>A.

Among the sisters, the pressure was on Julie to get tested first because she had cancer, and thus could provide the genetic marker against which Lisa and Amy would be measured.

Lisa wanted to know first, "to clear it off the slate," she says. "I was in my 40s, with two kids already, and wanted the official confirmation that I didn't need to worry about it anymore."

But when she asked Julie to get the test, her older sister stalled.

That is, until her own grown daughter, Natalie, wanted to know.

Says Julie of her long-ago mastectomies: "In hindsight, I was probably very much like my mom, very private about it with Natalie. She knew I was sick, but did I tell her what cancer was? No, I just wasn't that way. She went to doctors with me all the time, though. She would sit next to me and play quietly while I was on the couch. She knew instinctively I needed her to be good."

Nobody was surprised when Julie's blood test came back positive for the gene mutation.

Nobody was surprised when Natalie's came back positive, too.

But Julie assumed both Lisa and Amy were safe. "If you had it," she told them, "cancer would have shown up by now."

They liked believing that, too.

So, it was easy for Amy to forget about the lump Don pointed out to her that February night in their bed. When she finally succumbed to his nagging and had a mammogram and a core biopsy, she wasn't surprised when a nurse called to say it wasn't cancer.

She celebrated with Don, at Red Lobster, with a rare pina colada.

Don, however, knew better. "I know her body," he says now. "The minute I felt it, it did not feel right. It was a lump and you could feel things attached to it, like it was grabbing onto something." They seemed like the tentacles of cancer, a cancer he knew when he married her that they would someday have to face head on.

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When reality strikes

As with many women, Amy's diagnosis was not easy or linear. Four days after her pina colada, her surgeon was still concerned. Finally, after a lumpectomy, it became clear the cancer was real, albeit early.

Within a week she and Don decided to take off both breasts, the sick one and the healthy one.

Doctors told her she wouldn't be able to lift more than 5 pounds after the surgery, so Amy put together an online calendar and called upon friends to come by for 8-hour help shifts, while Don was at work, that would mostly involve lifting baby Theo.

They threw a "Boobs Voyage" party in their home, where dozens of friends and family regularly gathered with their children for super-sized pizza and good times. Amy's closest cousin, Christine McQuiston of Livonia, brought a white T-shirt of a woman's shapely body wearing a skimpy bikini that Amy immediately threw over her clothes and wore all night.

Christine, from her dad's side of the family, has no heightened risk of breast cancer. She has even offered to be a surrogate mother for Don and Amy's next baby if it comes to that.

By the time Amy was wheeled into the OR for the mastectomies, she was exhausted from everything she'd had to get done, but oddly giddy, too. Three days before Easter, she wore a huge set of bunny ears that made nurses and doctors laugh, and which reminded Amy this wasn't the end of the world.

"My biggest fear was waking up flat-chested," she says now. But reconstruction of breasts now begins in the same surgery that removes them. "By the time you wake up," Amy says, "your implants are in place and 120 ccs of saline solution have been pumped in. I looked down at my hospital gown, and there was this teensy weensy little bit of cleavage, and it was all right. It wasn't as bad as I expected. And I had the beginning of something."

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Youth, beauty and denial

Another surgery would fully plump the inserts, and a third would create the aureole and nipple, a final surgery Julie passed up. Amy, however, says without nipples "I felt like I had mounds, faceless, nameless mounds."

She is pleased she could shrink her cup-size and happy "they'll never sag." She shows her breasts to whoever has a serious interest, including close friends, male and female. "I don't feel they're anywhere as personal now," she says.

Sister Lisa took a look, too. She was shocked when she tested positive, after Julie, after Natalie, after Amy. No cancer. But every day, in her mid-40s, a nagging anxiety: While BRCA1 cancer usually strikes early, it can also strike late, especially in the ovaries.

Her ovaries came out first. It was easy. Giving up her breasts was harder, but Amy said to her: "You don't want to go through what I've been through. You don't want to become a cancer patient, because then you're always a cancer patient."

Lisa finally relinquished her breasts in the summer of 2007. Most difficult, she says, has been to relearn intimacy with her husband, to find new ways of arousal.

One who has not asked to see Amy's breasts, but who Amy wishes would, is her beloved niece Natalie, the maid-of-honor at her wedding to Don, now teaching third grade in Florida.

Natalie told me by phone she remembers nothing of her mother's illness, even though she bumped into her first-grade teacher not long ago and was shocked to hear the woman recount how often she was missing from class.

"It's nothing we ever really talked about," she says. "I think my mother wanted to protect me."

Although her relatives and doctors gently nudge her, she resists having her breasts removed, even though she is in a 6-year relationship with a man she expects to marry, and who has gladly accompanied her to doctors' appointments. "I'm not ready for it, how it would affect my self-esteem," she says. "I think I would feel a big loss, kind of like I was missing out on something."

She has chosen "close monitoring," which calls for mammograms and MRIs every six months. She was due for one in January, but plans to wait till she comes home to Michigan in April. This makes her mother and aunts nervous, but she's young. She's beautiful. And perhaps, they say, she's in denial.

"She hovers," says her mother, "between wanting to be responsible and wanting to bury it."

Then there is Lisa's 13-year-old, Emily. She knows about the family cancer. "It's scary, Mom," she has told Lisa.

"This thing," says Julie, "you just wish your generation would end it."

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A future to plan for

Meanwhile, Amy and Don are aiming their energy at tomorrow.

Because chemo sometimes destroys a woman's fertility, she and Don fertilized and had frozen eight embryos. She now believes she can conceive normally, but they have the embryos, just in case, and are still paying off the $10,000 it took to create and bank them.

Although women are urged to take Tamoxifen for five years after a breast cancer diagnosis, Amy went off it in December, four years early, in preparation for pregnancy. Her doctors think that's OK but, she says, they're still in a hurry to get her ovaries out.

She says: "I can't keep asking myself on a regular basis: 'Are you a fool?' " for risking ovarian cancer. "I can't live within the confines of the BRCA1 gene. I can't make every single decision based on the fear of it."

After her surgery two Easters ago, Don built a concrete seawall on their 300 feet of water frontage. She was weak from chemo, and annoyed that he'd rather be outside than helping her. But, as she writes in her manuscript, she realized the 10-week project was her husband's only therapy for what they'd been through together:

"It had come in the form of backhoes and graders, of rocks and fill dirt, of sore muscles and blistered hands, in his effort to control something in the midst of something that he couldn't. It was the only way he knew."

Don is a quiet man compared to his effervescent wife, but now he can say of the cancer: "It scared the living daylights out of me. We had just had Theo; we were probably happier than we'd ever been -- then this came popping up.

"So, are we allowed to be happy again?"

They will dare to give it a go.

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last updated: 03/25/08

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