Tough ChoicesBy Margaret RenklLadies’ Home Journal, October 2010
Everyone who knew Susan Gregg Gilmore’s mother-in-law, Martha, was inspired by her determination, generosity, and faith. As the first ordained female Southern Baptist minister in north Texas, she helped her community by registering voters and feeding the homeless. Even after she was diagnosed with breast cancer at 60 and then, almost a year later, with ovarian cancer, she remained a tireless public servant. For nearly a decade she battled a disease that often claims its victims in a matter of months. When she died in June 2007 at age 71, more than 1,500 people went to her funeral.
To Martha’s son, Dan Gilmore, an attorney, and to his wife, Susan Gregg Gilmore, a novelist, Martha was an ideal model for their three daughters, Claudia, Josephine, and Alice, now 23, 18, and 16. If the girls had inherited even a fraction of their grandmother’s energy, drive, and passion to better the world, their future would be bright.
Unfortunately, as Susan and Dan learned shortly after his mother’s death, Martha Gilmore left behind not just an inspiring example but also a devastating legacy: She had passed on to Dan the gene mutation that made her vulnerable to cancer. And he had passed it on to Claudia.
Martha Gilmore had no family history of breast or ovarian cancer. But having two separate cancers is a red flag for gene-related disease, so before she died her oncologist suggested that she be tested for harmful changes in her BRCA1 and BRCA2 genes. These mutations are strongly correlated with an increased risk of both breast and ovarian cancers. A woman’s lifetime risk of developing breast cancer is ordinarily about 12 percent, but for women with certain BRCA mutations the risk of developing breast cancer is 50 to 85 percent, according to the Memorial Sloan-Kettering Cancer Center. For ovarian cancer the increased risk is higher: A harmful BRCA mutation raises a woman’s lifetime likelihood of developing ovarian cancer from 1.4 percent to an astonishing 40 to 60 percent.
When a blood test revealed that Martha did indeed have a BRCA1 mutation, she sent Dan information about the genetic test and its implications. Many women, even many doctors, are not aware that a family history of breast and ovarian cancer can be passed on through men. When one parent—mother or father—carries a BRCA mutation, there’s a 50-50 chance a child of either sex will inherit it, too. “I have three daughters, so my mother knew how devastating this news could turn out to be for my family,” Dan says. Still, he couldn’t bring himself to get his own genetic analysis: If the results were positive it would mean that his daughters would need to be tested, too, since their chances of inheriting the mutation would also be 50-50. “I pushed it out of my mind because I didn’t want to face what it meant,” Dan says.
After Martha’s death, it was Susan who encouraged him to have the test. Most patients with BRCA1 mutations develop cancer at a much younger age than Martha Gilmore did; in fact, one of the worst repercussions of carrying the mutation is that such cancers are more likely to occur before menopause, when they are faster-growing and more resistant to treatment. “I didn’t want to watch my daughters die like I had just watched my mother-in-law die,” Susan says. “I kept telling Dan, ‘We have to know.’”
Dan relented and scheduled the test for early August. But because of a hospital mix-up it was early November before the Gilmores got the call: Dan shared his mother’s faulty BRCA1 gene.
“I fell apart,” Susan says. Even though there was still a 50 percent chance that each of her daughters was safe, Susan could think of only the worst-case scenario. “In that moment, I was angry at Dan. I was angry at his mother. I was really angry at this cancer that had already haunted us for years and was never going to leave us alone. I just kept thinking, ‘Oh my God, I have three girls.’”
It didn’t help that Dan’s reaction was so different from Susan’s. He felt his role was to be the strong one –to focus on the day to day—and that attitude only made Susan feel more afraid. “Dan was just trying to carry on. That was the way he coped. But I was like, ‘What is wrong with you? Why don’t you care?’”
Before they told their daughters, Susan and Dan met with a genetics nurse, who supported Susan’s decision to look at her own family tree for a clearer picture of what their daughters might face. That’s when the issue got really complicated: Susan’s maternal aunt, she suddenly remembered, had died of ovarian cancer at 52; her maternal grandmother had died in her early 30s of unknown causes. So in January 2008 Susan, who was 46, got tested as well. It was unlikely that she had a BRCA-mutation— her mother, sisters, and many female cousins were fine—but right then she needed confirmation of her family’s legacy of good health.
To add to the turmoil, Susan’s first novel, Looking for Salvation at the Dairy Queen, was about to be published and she was facing a grueling book tour to promote it. The additional stress of waiting for the test results was almost too much to bear. Finally, the genetics nurse called: Susan had an abnormal BRCA2 gene.
But the news wasn’t clear-cut. There are different kinds of variations in BRCA1 and BRCA2 genes. Some, like Dan’s, are known to increase the risk of breast and ovarian cancer. Others are benign—they aren’t associated with cancer at all. And there’s a third group, called variants of uncertain significance. They look different from normal BRCA genes, but doctors don’t know whether the differences are dangerous. Susan had inherited a variant from this group.
Having a variant of uncertain significance means there’s no set protocol for how to manage or treat the condition. If she had inherited the same mutation Dan carried, Susan’s course would be clear—the common route is to undergo a double mastectomy to remove both breasts and an oophorectomy to remove both ovaries. But without knowing whether Susan’s own variant carries any particular risk, no doctor could tell her what to do. “It’s hugely frustrating,” says Susan Caro, a nurse-practitioner and director of the Family Cancer Risk Service at the Vanderbilt-Ingram Cancer Center, where Susan went for counseling. “It’s not really an answer. It doesn’t clarify what you should do.”
It took months, but finally Susan reached a decision. With a family history of ovarian cancer and a gene difference of some kind, she felt it made sense to go ahead with the oophorectomy, but she wanted to keep her breasts. Her doctor supported her decision. There are many ways to screen for breast cancer — mammograms, ultrasounds, MRIs, and regular breast exams — but there are no good tests for ovarian cancer, which is rarely caught early enough to be cured. For Susan the decision was clear: “I’d had my children, I wasn’t that far from menopause, and I’d seen too much ovarian cancer. My ovaries had to go.” But first she had to tell her oldest daughter some news.
In the spring of 2008 Claudia was a junior at Georgetown University in Washington, D.C., far from all the turmoil her parents were going through in Tennessee. By now 21, she was also the only Gilmore daughter old enough to be tested. (Because the mutation doesn’t cause health issues in children, doctors don’t test for it before patients are 18.) One day in May, while the three of them sat together at lunch, Susan and Dan finally told Claudia the news that had already shaken them.
Claudia didn’t know what to think. “My first reaction was that it was just way too big and way too scary to even contemplate,” she says. “But then I thought, ‘Wait a minute. In college they teach me that knowledge is power. I’d be stupid not to at least look into this.’ I made up my mind in about 10 minutes: ‘Yep, I’m going to take the test.’”
That August Susan had the oophorectomy and Claudia came home to take a blood test she assumed would rule out both her father’s gene mutation and her mother’s gene variant. “And then I kind of put it behind me,” Claudia says. “I was 21. It’s easy to think nothing bad will ever happen to you.” But she couldn’t put it behind her for long. A couple of weeks later she, too, got a call from the genetics counselor with the news that she had inherited her grandmother’s mutation.
“After I hung up everything was just a fog,” Claudia says. “At that point it really did seem like a death sentence, like I had only so many more years to live.”
When she heard the news about her daughter, Susan fell apart again. “But this time I cried for only a day or two,” she says. “I knew this was lifesaving information. There are game plans. I was not going to lose my daughter.”
As Claudia quickly learned, the protocol for women with BRCA mutations is to do nothing until age 25 and after that to begin a screening regimen, alternating a mammogram and an ultrasound with an MRI every six months. At 35 women are advised to consider getting a double mastectomy followed by an oophorectomy at age 40. But the more Claudia learned about her mutation, the more she encountered stories of women who had developed cancer who were her age or younger. And when you’ve met a woman who was diagnosed with breast cancer at 24, the watch-and-wait approach can be terrifying. “Breast cancer does happen to people my age,” she says. “It’s still pretty rare, but it happens to young women every day. With my BRCA1 mutation I could be the next diagnosis.”
Which is why Claudia, after two years of research and talking with other young women at high risk for breast and ovarian cancer, has made a decision that goes against part of the usual protocol for managing BRCA mutations. Because she hopes to marry and have children someday, she’ll follow the recommendations for oophorectomy. But she’s not waiting for the mastectomy. This January, when she’ll have time off from her job at a D.C. nonprofit, Claudia will be recovering from an operation in which both of her healthy breasts will be removed and reconstructed. The surgery will reduce her risk of developing breast cancer from up to 80 percent to less than 2 percent. As she wrote on her first post at previve.com, a blog she started to chronicle her journey toward mastectomy, “I have grown anxious to do something bigger to annihilate any chance of this cancer becoming a part of my life as it did for my grandmother.”
But there are more benefits to double mastectomy than just avoiding cancer. “Every patient has a different level of anxiety, but if you know you have an 80 percent chance of developing breast cancer at some point, that’s a pretty dark cloud to have over your head,” says Shawna Willey, MD, Claudia’s surgeon and the director of the Betty Lou Ourisman Breast Health Center at Georgetown University Hospital. Moreover, the frequent monitoring that goes along with the watch-and-wait approach often turns up abnormalities that are perfectly harmless but that must be followed up nonetheless. “Having to get biopsies and to think, ‘Could this be it? Is this a cancer about to start spreading?’—I’d be eaten up with all that stress,” Claudia says. By having the surgery now she can avoid years of emotional trauma.
Susan admits she’s almost relieved by Claudia’s decision. “As soon as she started talking about it, I was 100 percent behind her,” Susan says. “Claudia feels a better quality of life will come from having this done and moving on, and I get that. As her mother, I’ll be able to rest more easily, too.” Dan is just amazed at his daughter’s courage: “I couldn’t be more proud of her,” he says.
But not everyone has been supportive of Claudia’s choice to act now. One doctor begged her, “Promise me you’ll make a decision not to make a decision yet. You don’t need to do this,” and Claudia understands the point. New research could uncover a less-radical means of managing this risk before she reaches the age when cancer is more likely to strike. And this decision has ramifications that go beyond the pain and risk of major surgery. Breast reconstruction is a tough process: It will take months for her tissue to expand enough to accept implants, and she’ll need an additional surgery to remove the tissue expanders and insert the implants. In addition, Claudia’s new breast tissue won’t be capable of sexual response the way natural breasts are, and she won’t be able to nurse her babies.
Then there’s the question of dating. Fortunately, Claudia’s male friends have been totally understanding. In fact, she is coming to see this situation as a great way to weed out the good guys from the losers. “If I had been able to present this to some of the boys I’ve dated in the past, I might not have wasted so much time with them,” she says.
As she waits, Claudia turns for support to her parents and friends, including many she’s met through a group called Bright Pink, a national advocacy organization specifically for young women at high risk of breast and ovarian cancer. In the process she has become a resource for others who are facing the same news. As outreach coordinator of the D.C. chapter, Claudia can offer a unique kind of reassurance. “When young women find the group, they have the same reaction I had: ‘Oh my God, I’m not the only one,’” she says. “I’m so grateful that sisterhood is there for Claudia,” says Susan.
As for Claudia’s actual sisters, neither has been tested for the mutation, and Claudia is cautious about sharing details with them: “They should not have to be thinking about this. They should be thinking about making good grades and having fun at parties,” she says. “When they’re ready to talk about it, I know they’ll come to me. And if either of them ever has to go through this, I’m grateful that I’ll be able to help her figure it out.”