Genetics, history spelled cancer, so she opted for preventive mastectomy

By Karen Garloch
Knight Ridder Newspapers

L. MUELLER / CHARLOTTE OBSERVER Ellen Martin, of Charlotte, N.C., tested positive for the gene that almost guarantees she will get breast cancer. She decided to have a preventive mastectomy.

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There was nothing wrong with Ellen Martin.

Except for the dread.

She walked out of Dr. Laurene Mann's radiology office in Charlotte, N.C., got into her car and exhaled.

"OK, I'm done," she thought. "I don't ever want to go through this again."

It was May 6, and it had been a year since Ellen learned she had inherited a genetic mutation that put her at high risk for breast and ovarian cancer. She'd had lots of tests, and she'd gone to her mammography specialist for another opinion. She heard once again that there was "something" on her breast scan, but that it was probably nothing unusual.

Someday, Ellen knew, it would be.

At 50, she knew her cancer risk would continue to grow. Should she take the chance? Or have her healthy breasts removed?

Driving, she called her husband, Tim, on the cellphone.

"I don't think I can live like this," she said. "I think I've just got to get rid of them."

Ellen's journey began when her younger sister, Alice Bader, was diagnosed with ovarian cancer at age 47 in December 2002.

Alice's cancer was caught early, and doctors hoped for a cure. But Ellen couldn't believe how weak the chemotherapy made her normally strong, outspoken sister.

As she flew back and forth from Charlotte to Long Island, N.Y., to be with Alice during treatments, Ellen worried about her own health. For more than 10 years, since she'd had a close friend develop breast cancer in her 30s, Ellen had dreaded every mammogram. Her heart raced before every appointment, and she couldn't relax until the report came back OK.

In recent years, one of Ellen's cousins, on her father's side, had also had ovarian cancer at 47. It made her wonder if this could be hereditary.

Alice's doctor said no, that women couldn't inherit cancer of the female organs from their fathers. But Ellen and Alice soon learned that was wrong.

Women can inherit mutations of BRCA 1 or BRCA 2, two genes linked to an increased risk of breast and ovarian cancer, from their mothers or their fathers.

And as they delved into family history, they found more reason to worry. Three other relatives on their father's side had had breast or ovarian cancer.

Information National Cancer Institute, toll-free 800-422-6237, www.nci.nih.gov. Cancer Information Service, toll-free 800-422-6237. Sharsheret, for Jewish women with high risk for breast cancer, www.sharsheret.org. Force (Facing Our Risk of Cancer Empowered), www.facingourrisk.org. National Breast Cancer Coalition, www.natlbcc.org. American Cancer Society, toll-free 800-227-2345, www.cancer.org.

By spring 2003, Ellen was ready to find out her risk.

At Carolinas Medical Center, she talked to genetics counselor Lisa Amacker North, who reviewed Ellen's family's medical history. Not only did several relatives have the diseases, but Ellen's family was Jewish, of Eastern European or Ashkenazi descent, and breast-cancer gene mutations are common in that population.

A simple blood sample would show if Ellen had inherited the trait.

On June 2, 2003, Ellen and Tim returned for the results. A serious-looking Amacker North told them the test was positive. Ellen had inherited a mutation of the BRCA 1 gene.

Women with this mutation have a 40 percent chance of getting ovarian cancer and an 80 percent chance of getting breast cancer in their lifetimes, Amacker North said. Ellen's daughters would have a 50-50 chance of having the mutation, too.

They talked about ovarian cancer first. Since there are no good screening tests for ovarian cancer, it is usually not diagnosed until the late stages when a cure is unlikely. Amacker North recommended that Ellen have her ovaries removed.

Ellen agreed. She and Tim had three daughters, Rachel, then 20, and twins Meredith and Laura, 17. They didn't plan more children.

Addressing breast cancer was not as simple. It boiled down to screening versus prevention.

Ellen could watch and wait, getting frequent mammograms and other tests and hoping any cancer would be caught early.

Or she could try to prevent cancer. She could take a drug, such as tamoxifen. Or she could choose the most drastic step, a prophylactic, or preventive, bilateral mastectomy.

That meant having her healthy breast tissue cut out. It would not eliminate her risk of breast cancer because no surgeon could remove 100 percent of her breast tissue, but it could reduce her risk by 90 percent.

Neither Amacker North nor the doctors Ellen saw later would tell her what to do. "It's a personal decision," they would say.

Ellen needed time to think.

The big decision

She wasn't like some women, so proud of their breasts that they wore clothes to show off their cleavage. She'd never considered implants. Still, her B-cup breasts were important to her femininity, and she hated to think of having them cut off.

But she was considering it. It was her nature to take charge, whether it was writing letters to the editor or chairing leadership teams at her daughters' schools.

She remembered watching Alice lose her hair and get so tired during chemotherapy. She didn't want to go through that.

A few weeks later, Alice and the cousin who had ovarian cancer got tested in New York. Both had the same genetic mutation.

The family connection was clear.

On June 19, 2003, Ellen had surgery to remove her ovaries. She took time to recover, and then she plunged into research about breast cancer.

In February, she flew to the University of Pennsylvania, her alma mater, where researchers were studying women with breast cancer gene mutations.

There, she had a breast MRI, a diagnostic scan recommended only for women at high risk. But it can pick up a lot of irregularities that aren't cancer, and that can lead to unnecessary worry.

Ellen was frustrated by her MRI results. The doctors said they "found something, but we don't think it's anything," she recalled, and then they asked her to come back in six months.

Back in Charlotte, she brought the MRI report to Mann, the radiologist who had been reading Ellen's mammograms for years. Mann agreed with the Penn doctors; it was probably nothing.

Outside in her car, Ellen realized she'd had enough.

Her breasts had fed three babies; they had "served their purpose," she told herself.

She was ready to let them go.

Support before surgery

Ellen felt relieved, as if a weight had lifted. Tim, a Charlotte banker, supported his wife's decision in his naturally quiet way. He didn't push one way or the other. He accompanied her to doctors' appointments.

"I can't know if I'd do the same thing in her shoes," he said.

They started the round of doctors' appointments that would lead to surgery June 16. Fortunately, they were told, insurance usually covers the procedure.

On June 1, they met with the plastic surgeon, Stephan Finical, at Charlotte Plastic Surgery Center.

Wearing a dark suit and tie, Finical took plenty of time for questions. He explained that the first part of the operation would be done by Dr. Richard White, the surgical oncologist. He would make the first cut, removing the nipples and areolae, then the breast tissue inside.

After that, Finical would implant expanders, or silicone pockets that would be filled with saline to simulate breasts. Because the expanders would go under her muscles, they would cause chest discomfort, he said, "like the first day of tennis season." But she would get plenty of painkillers.

When some time had passed, he would begin adding saline "until we get to the volume we want."

A week before the operation, Ellen and Tim met with the other surgeon, White, at Carolinas Medical Center.

Mostly, he operated on women with breast cancer, but he had been seeing more patients like Ellen, about 25 in the past five years.

Using a color diagram of a breast, he showed her that the cuts, around the nipples, would leave 2- or 3-inch scars. She could decide later whether to have the nipples reconstructed.

White reminded Ellen that he wouldn't be able to remove every bit of breast tissue. But he said the implant would push leftover tissue toward the skin so that, if breast cancer were to occur later, lumps would be easier to feel. She wouldn't need routine mammograms anymore.

Good, Ellen said. "I'm looking at this as a relief."

On June 15, the day before Ellen's surgery, friends gathered to show their support.

They sat in a circle in Judi Norman's southeast Charlotte den, holding hands, singing songs and saying prayers. Ellen, with her long, curly hair, short flared skirt and sandals, looked like she could be a sister to her twin daughters.

"You are a woman of strength," said Rabbi Judy Schindler of Temple Beth El. "We admire the way you are taking this bold move. We are here to bring you joy, and laugh with you and play with you and sing with you."

The rabbi gave Ellen a strip of beige cloth, a pocket blessing, imprinted with the words, "Every Breath is Healing."

One by one, each woman shared a thought and wished Ellen well. Later, they signed up to bring meals and chatted over coffee cake. They talked about their own anxiety over lumpectomies and biopsies. Some spoke of women who had, like Ellen, chosen a prophylactic mastectomy.

Daughters getting tested

Ellen's twins weren't surprised by their mother's decision. "That's just the way she is, to be proactive," said dark-haired Meredith. "It's exactly like something she would do," added blond Laura. Ellen had talked with all three daughters about what this genetic mutation might mean for them. Rachel, the oldest, had already been tested and has the same mutation as her mother and aunt.

"I almost would have been surprised if I didn't," Rachel said. She plans to start getting mammograms in a few years, but she'll wait until she's had children to make other decisions. By that time, she hopes, researchers will have come up with better choices. "It's hard for me to worry about right now," she said.

The twins have talked to the genetics counselor and will get tested soon.

Surgery day

On the day of the surgery, as Ellen prepared to roll into the operating room, her husband, sister and daughters gathered around. She held a cloth bag filled with tokens for good luck — a silver heart and a healing doll from friends, the pocket blessing from the rabbi and a list of people who would pray for her.

Friends dropped in to be with the family as they waited. Every hour or so, a nurse reported that surgery was going well.

In five hours, it was over.

When Ellen woke up, surgeon White told her the operation had gone perfectly. Nothing in the breast tissue looked suspicious.

He was glad to hear her first words: "I feel so relieved."

Reconstruction begins

On June 29, 13 days after surgery, Ellen was back in the plastic surgeon's office for the first injection of saline to expand her chest.

She undressed quickly and unselfconsciously.

Instead of a wrap around her chest, she had only two thin bandages covering the scars where her nipples had been. Instead of the flat chest she'd expected, she had mounds on either side, like a body builder's pecs.

She hadn't remembered that the doctor was going to put some saline in the expanders right away. But she was glad. That made it easier to look than she'd thought it would be.

In the shower and in front of the mirror, she could imagine that she still had breasts, however small, and that she still had nipples under those bandages.

When nurse Megan McCullough peeled off the bandages, Ellen winced in pain.

"It's definitely very tender," she said.

Finical, the surgeon, said the newly added saline would stretch her skin and muscle even more. "This is going to feel like you did a good chest workout," he said.

He poked a needle into her left chest and slowly added about 3 more ounces of saline.

Ellen's friend, Judi, watched as the mound visibly rose, stretching tight. "You're looking more like an 18-year-old every day," she said.

Ellen felt like a bicycle tire getting pumped up. She had taken pain medicine before she arrived, and she would definitely take more that night.

After adding saline to the right breast, Finical left the room, and Ellen stood to look in the mirror.

"Whoa," she said. "Oh my gosh."

Her breasts didn't quite match — that would come later — but they didn't look bad.

She would see Finical again in a few weeks for more saline. In nine months, she'd have another operation to replace the expanders with regular implants.

Ellen pulled on her green knit shirt, leaving the V-neck unbuttoned.

"Look. Cleavage," Judi said, half teasing.

"Not bad at all," said Ellen, admiring her reflection.

They walked out together, into the sunshine.

Copyright © 2004 The Seattle Times Company

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