by Richard Greenberg, Associate Editor
The chain of events leading up to Lisa Schlager's day of reckoning began about 10 years ago when she learned that her Aunt Ronni had developed breast cancer.
Ronni was found to have a genetic mutation that dramatically raises the risk of breast and ovarian cancer, and is especially common among Ashkenazi Jews.
Being Ashkenazi (and a blood relative), Schlager, then 31, was asked by her aunt if she wanted to be tested for that same mutation.
"I said, 'Why not?' " recalled the 42-year-old Chevy Chase resident, who met with a genetic counselor, had her blood drawn and then waited a few weeks for the results. "There was brief anxiety. But I didn't think it could happen to me. I was feeling kind of invincible."
The test results were positive. "It felt like someone had punched me in the stomach," said Schlager, who discovered she had inherited a defective BRCA1 gene, one of two genes (BRCA2 is the other) that suppress the formation of tumors.
A BRCA1 or BRCA2 gene that is compromised through a mutation increases the likelihood that a woman will develop breast cancer by about fivefold, according to the National Cancer Institute. Likewise, the risk of developing ovarian cancer shoots up from 14 in 1,000 to 150-400 in 1,000.
"I remember thinking," Schlager recalled, " 'What am I going to do with this information?' "
Therein lies the quandary for carriers of the BRCA mutation. Newly supplied with sobering data on the medical minefield they might encounter, they are soon presented with two chief treatment options, each of them daunting in its own right.
They can undergo frequent screenings in hopes of detecting cancer early, when it is most treatable. Or they can opt for preventive surgery, most likely a bilateral mastectomy (removal of both breasts) or an oophorectomy (removal of the ovaries).
"I just want someone to tell me what to do," said Allison Polich, a 25-year-old Falls Church resident. "The uncertainty is a killer; it's very frustrating."
Polich's mother died of ovarian cancer at age 39 in 1996; her mother's older sister developed breast cancer at age 29 in the mid-1980s before later testing for the BRCA mutation.
Polich herself was tested for the gene defect in 2007, shortly before she was married. "I know it sounds awful, but I wanted my husband to be able to get out if he wanted to," said Polich. "I didn't want to get married and then say, 'Oh, by the way ... .' "
Although Polich had strongly suspected that she was a carrier, when she received the positive test results, "I just sat there in a daze. It was a hard day, a hard week, a hard month. These aren't things that people my age are usually dealing with."
Looking back, her husband, Chad, 29, said he never considered ending their relationship. "That's not what love is," he said. "It's a ridiculous question."
After consulting with several doctors and a genetic counselor, Allison Polich has decided she eventually will have a prophylactic mastectomy and a full hysterectomy, which includes removal of the ovaries as well as the uterus. She plans to delay surgery for the next few years, until after she has children. In the interim, she is closely monitoring her situation with the help of MRI examinations every six months.
"I just don't want to go through what my mother went through," she said.
Uncertainty and anxiety come with the territory, explained Tiffani DeMarco, a genetic counselor and clinical coordinator at the Lombardi Comprehensive Cancer Center at Georgetown University Hospital and at Washington Hospital Center. She also runs a support group for BRCA-positive women that meets at Georgetown University Hospital.
"This is sort of the nature of the issue," Demarco said. "You can't exactly pinpoint someone's susceptibility to cancer."
Each option available to BRCA carriers has both benefits and drawbacks. A prophylactic mastectomy vastly reduces the risk of developing breast cancer, and an oopherecomy makes ovarian cancer highly unlikely.
(Both procedures are often covered by health insurance, as is genetic testing and screening, according to DeMarco. Plus, federal legislation enacted last year outlaws discrimination based on genetic information when it comes to health insurance and employment, but not life insurance or disability insurance.)
Although prophylactic surgery is a boon to many BRCA carriers, it is not a panacea. It is impossible to remove all breast and ovarian tissue, and some of it that remains after surgery can become cancerous.
Cosmetic concerns are another issue when it comes to breast surgery. Plus, recovering from a double mastectomy is a lengthy and sometimes unpleasant experience, according to those who have had the surgery.
"It was extremely difficult for me," said District resident Rachel Marks, 38, who underwent surgery about a month ago, and then had a follow-up procedure to correct complications. "It was really traumatic."
Marks had never heard of BRCA until her sister tested positive for the mutation a few years ago and suggested that she also be evaluated. There was an extensive history of cancer in her family.
Marks learned that she had the BRCA mutation about two years ago, and in February 2008, she had her ovaries removed prophylactically. "I didn't want to take any chances, she explained. "I was single at the time. It was a no-brainer for me." (Marks is now in a committed relationship with a "very supportive" boyfriend.)
DeMarco confirmed that BRCA-positive women aged 35-40 are strongly advised to have their ovaries removed prophylactically because ovarian cancer is difficult to detect and often especially tough to treat as a result. "It's kind of a no-brainer," she said.
However, an oophorectomy all but precludes having children, and it instantly brings on menopause, which often carries side effects. "It can be a hard choice," said DeMarco, although as a number of experts have pointed out, menopause and childlessness are never fatal.
Marks initially opted for surveillance rather than a mastectomy, but that proved to be psychologically draining - especially after the monitoring detected a suspicious-looking spot in her breast. (It was benign.) "The more I did mammograms and MRIs, the scarier it got," she explained. And then another spot was found. "At that point, I just couldn't deal with the anxiety of going back and forth and not knowing," she said.
Although Marks continues to suffer from intense, sustained postoperative pain from her mastectomy, the decision to have preventive surgery has at least brought her peace of mind. "Thank God," she said, "I'm concern-free now."
As for Schlager, she, too, began with a screening regimen that twice revealed growths in her breast that were alarming even though they turned out to be noncancerous. "I started feeling like I was a ticking time bomb," she said.
Schlager had her ovaries removed as a precaution in February 2007, but she remained unwilling to have a mastectomy - until a friend with breast cancer convinced her otherwise. "She said, 'Lisa, you do not want to be in my shoes. You do not want to be me,' " Schlager recounted. "That was the clincher, and I'm glad."
Schlager's double mastectomy included reconstructive surgery and the installation of breast implants, a series of procedures that concluded about a year ago. "It's a painful, ugly surgery and I can't imagine having that and then chemo or radiation," said Schlager, who spent more than six weeks recuperating.
"It was brutal; it was horrible for her," added her husband, Gary, 43. "But we know so many people, family and neighbors, with cancer and you see the effect it has on their families ... the [aftereffects] of the procedures Lisa went through pale in comparison."
She agreed that it could have turned out much worse. "I'm lucky I found this out and that I had the opportunity to do something about it," she said. "A lot of people don't even know." (To raise public awareness, Schlager, a former marketing and communications consultant, has become outreach co-coordinator for a support group known as FORCE, Facing Our Risk of Cancer Empowered.)
The Schlagers have a daughter, 9, and a son, 6, who have received only vague information about their mother's situation. "They're young enough that I could get away with it," said Lisa Schlager.
Sooner or later, however, they will have to be informed, since the offspring of a BRCA carrier stand a 50 percent chance of inheriting that genetic mutation.
"For a young girl to deal with this involves lots of issues regarding body image and feelings of mortality," said Schlager. "It's hard enough for a woman in her 20s."