Monday, November 21, 2005
Decision for life
The presence of a genetic mutation can increase the risk of cancer and necessitate tough choices.
Wanda Smith first learned she might be at high risk for breast and ovarian cancer at an uncle's funeral in February.
The 61-year-old Franklin County grandmother knew cancer ran in her family. Her sister died in 2002 of ovarian cancer at age 60. And the uncle whose funeral Smith was attending in Rocky Mount had also died of cancer.
One of Smith's cousins told her at the funeral that Smith could be at higher risk for developing cancer because of a genetic mutation.
The cousin, who is male and has breast cancer, told Smith he'd been tested and found he had a genetic mutation that increased his risk of developing breast cancer and other cancers.
He encouraged Smith to get tested.
Smith, who is the mother of three grown sons, was enjoying a life filled with community service and travels with her husband, E.J.
She'd made sure she got a mammogram every year. But technicians repeatedly told her that she didn't have to worry about developing cancer because of her family history.
"I have been told many times that it didn't count if it was on my father's side" of the family, she said.
But Smith happened to have a doctor's appointment later that week. She told her doctor about her cousin's positive test. She also showed him a chart she had drawn up of her family tree, with all her relatives who had cancer circled.
Her doctor told her he didn't think the test results or the family tree was significant.
But he still gave her the name of Catherine Hagan Aylor, a genetic counseling specialist at the Carilion Breast Care Center.
Smith was relieved that her doctor didn't see significance in her cousin's test and her family history. She went on with life and didn't call Aylor.
Then she heard another cousin had tested positive for the mutation.
Risk factors
Each year, more than 192,000 women in America are diagnosed with breast cancer, according to the National Cancer Institute.
Most women who develop breast cancer have no family history. But between 5 percent and 8 percent of those cases are hereditary, or the result of genetic mutations that can be passed down from parent to child.
Scientists have already identified mutations in tumor suppressor genes they have named BRCA1 and BRCA2 -- breast cancer one and two. And they are still looking for other genes that may also increase the risk of developing cancer.
Both men and women who inherit the mutated genes can pass them along to their children. If a parent has a mutated gene, there is a 50 percent chance the parent will pass it on to his or her child.
But not all people who inherit the gene will develop cancer as a result.
If a woman inherits a mutation, she is three to seven times more likely than women without the mutation to develop breast cancer. The risk of ovarian cancer is also higher for women with a mutation.
Mutations of these genes in men also increase their risk of developing breast cancer or other types of cancer.
Signs that a family tree may include a genetic mutation include the onset of breast cancer in premenopausal women in the family and male relatives who develop the disease.
Result: positive
At the Carilion Breast Care Center, Aylor sees about six to seven new patients a week, she said. Some decide not to go through with the testing.
About 30 people have been tested so far as part of Carilion's program, which has been operating since 2003, Aylor said. Of that number, about seven patients have tested positive for the mutation, she said.
Smith decided to get the testing, not only so she would know, but also because a positive result could have ramifications for her sons and grandson. She also asked her sons to get tested if her results turned out positive.
Her testing consisted of a blood test, which cost Smith about $350. (Her insurance company refused to pay for the test, but Smith has appealed that decision.)
Like other people who have family members who have already had genetic testing, Smith could provide her cousin's results to help technicians know what to look for. (That also makes the testing less costly).
In early August, Smith's results came back. Aylor asked Smith to come into the office.
"After she called, I just knew it was going to be positive," Smith said.
Smith was right. She had tested positive for the genetic mutation.
Two of her three sons, who visited in August, also got tested.
A son who lives in Maryland and is the father to the Smiths' grandson and grandchild on the way, was tested for the mutation. It came back negative.
Another son, who lives in North Carolina and has no children, tested positive for the mutation. His identical twin, who lives in Wales, has not yet been tested. "My personality is, I want to know everything I can know," Smith said. "But other people's personalities aren't like that. I have to respect that, but it's hard to understand."
Smith went to see Dr. William Fintel, a Salem oncologist, and they discussed Smith's options.
Fintel recommended prophylactic, or preventive, surgery: having her breasts and ovaries removed even though she showed no signs of cancer.
With the positive results, Smith had as much as an 84 percent risk of developing breast cancer and a 27 percent risk of developing ovarian cancer by age 70.
Though surgery would not eliminate the risk because not all of the tissue could be removed, it would reduce the risk that Smith would develop breast or ovarian cancer by 90 percent to 95 percent.
"That was my worst day," Smith said.
Life and death, surgery and disfigurement
Fintel said in a separate interview that he treats members of about a dozen families who have mutations on the BRCA1 or BRCA2 genes.
Those patients include men and women, young and old, black and white, he said.
When deciding whether to recommend preventive surgery in patients who have tested positive for a mutation, Fintel considers age and desire for childbearing.
He would not recommend the preventive surgery for a woman who still wanted to have children, he said.
"It's a matter of life and death," Fintel said. "But it's also a matter of surgery and potential disfigurement. These are highly emotionally charged issues."
The week after Smith spoke with Fintel, she read medical information and consulted a genetic counselor at Johns Hopkins University, who seconded Fintel's recommendation.
She also spoke with friends who had experienced breast cancer. They recommended the preventive surgery to avoid the higher risk of developing breast cancer and the prospect of chemotherapy and radiation, she said.
Smith's sister's experience with cancer also figured into her decision.
"I watched my sister do chemo for five years, and I just didn't want to do life that way," Smith said.
She also thought about how much she and her husband are enjoying life: traveling, volunteering, spending time with their sons and grandson, and expecting the birth of a second grandchild in January.
"We just don't want to give up that time," Smith said.
Another one of her doctors, surgeon Robert Williams of Salem, gave her three articles to read on mastectomies, one of which was about women who were unhappy after the surgery.
"He wanted me to know everything," she said. (Williams said in a separate interview that he does several preventive mastectomies a year.)
Smith's husband of 43 years didn't try to influence her decision.
"I just tried to stay quiet and let Wanda make the decision," E.J. Smith said. "I was just there for her when she needed me."
But once Smith made the decision, her husband told her, " 'I think you're absolutely right,' " she said.
No regrets
On Oct. 28, at Carilion Roanoke Memorial Hospital, Williams performed a double mastectomy on Smith. Later that day, Dr. Eric Swisher removed her ovaries.
The surgeries went very well, Smith said. She was home from the hospital within 24 hours and recovered quickly.
When Smith's bandages came off, and she saw her chest for the first time after doctors removed her breasts, it was a shock, Smith said. But she did not regret her decision.
"I hope I'm about more than the physical parts of my body," Smith said.
Smith said she thought some people might have thought the preventive surgery was a ridiculous thing to do. But lots of people have used the words "proactive" and "brave," she said.
"I don't feel so brave, I just felt it fit for my life."




