Tough Choices

Susan Gregg Gilmore and her daughter knew they had a genetic mutation that causes cancer. The question was, What were they going to do about it?
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Learning the Risks

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.

Learning the Risks

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.'"

Falling Apart

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.

Shocking News

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.

Continued on page 2:  Hard Decisions

 

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