Women with a family history of breast cancer are undergoing double mastectomies to fight the disease.
Tania Nilles is a busy Wauwatosa mom. She has a husband, Chris, two boys ages 8 and 4, and a part-time job as a nurse at an orthopedic hospital in Franklin. She is helping her mother through chemo treatments for metastatic cancer.
Nilles has friendly brown eyes and chestnut-colored hair cut in a stylish bob. She enjoys reading and photography. “I love taking photos of my family, and have done a few shoots for friends and family.” Together, the family enjoys geocaching, trail walking and making visits to farmers markets.
Nilles also has an inherited mutation of the BRCA (pronounced BRACK-uh) gene. This puts her at a much higher risk for developing breast and ovarian cancer than the general population.
In 1990, geneticist Mary-Claire King, then at the University of California-Berkeley, published a paper announcing the discovery of the gene mutation. But it was the actress and filmmaker Angelina Jolie who put awareness of it on the map, at least for the public. Her frank and widely publicized revelations that she had a bilateral (both breasts) mastectomy (in 2013) and a bilateral salpingo-oophorectomy (removal of ovaries and fallopian tubes, in 2015) brought the issue to the forefront of public consciousness.
Typically, if a physician learns that a patient has a strong family history of cancer, she will suggest genetic counseling. In Nilles’ case, when her mother, Cindy Bartlett, developed breast cancer in 2005, and then metastatic cancer in late 2010, a friend whose niece is a genetic counselor suggested Cindy be tested for the gene mutation. She tested positive for BRCA2, so Tania also contacted the genetic counselor, Jenny Geurts at Froedtert & the Medical College of Wisconsin.
“Jenny said, ‘Come in when you’re ready, and we’ll talk,’” says Nilles, now 37. “‘If you decide to get tested, you’ll have to decide what to do with the information.’ I never felt pressured or rushed.”
Geurts’ first job is to do a risk assessment by taking a detailed family history, then decide whether the patient has enough risk factors to be eligible for genetic testing that will be covered by insurance. If the patient tests positive, it’s time to explore options.
When Geurts learned of all of the cancer in Nilles’ family – her mother, a grandfather who died of pancreatic cancer, a cousin with breast cancer, and a great-grandmother who died of some sort of cancer in the 1950s – red flags went up. Nilles was definitely eligible for testing.
“People asked why I would want to get tested,” Nilles says. “They said it’s easier to be oblivious than to have the knowledge that you have the mutation.“But I’m very Type A,” she continues. “I couldn’t not know.”
So just before Thanksgiving 2011, Nilles gave a saliva sample, and a few days later, the results came back: positive for the BRCA2 gene mutation. Her chances of developing breast and ovarian cancer were much higher than for most women.
The initial diagnosis was overwhelming. Her older son was only 4, her baby 9 months. “I now knew a little too much,” she recalls. “And I now had to decide what to do with the information.”
According to statistics from the American Cancer Society and the National Cancer Institute, about 5 to 10 percent of the 240,000 female breast cancer cases diagnosed each year (compared to about 2,000 cases in men) are thought to be hereditary, meaning they result directly from gene defects inherited from a parent. The most common cause of hereditary breast cancer is an inherited mutation in the BRCA1 and BRCA2 genes.
About 12 percent of women in the general population will develop breast cancer sometime during their lives. If a woman has inherited the BRCA1 mutation from a parent, she has a 55 to 65 percent chance of developing breast cancer by age 70. For the BRCA2 mutation, the likelihood is about 45 percent. As for ovarian cancer, though only 1.3 percent of women in the general population will develop it, 39 percent of women who inherit the BRCA1 mutation will develop it by age 70, and 11 to 17 percent with the BRCA2 mutation will by 70.
(Note: Earlier, smaller studies put the breast cancer risk as high as 87 percent – the figure that Angelina Jolie used in her statements – and the ovarian cancer risk as high as 70 percent. Earlier research, however, primarily studied families in which almost everyone had cancer, which led to a high estimate of risk. With larger, more recent studies, the average risk is lower, but still significant.)
“Also,” says Colleen McDonald, communications director for the Milwaukee-area American Cancer Society office in Waukesha, “breast cancers linked to these mutations occur more often in younger women, and more often affects both breasts than cancers not linked to these mutations. Women with these inherited mutations also have an increased risk for developing other cancers.”
In particular, women with the mutation may be at a greater risk for developing fallopian tube and peritoneal cancer. Men could face a greater risk of developing prostate cancer. Both genders are likelier to develop pancreatic cancer.
In the U.S., though the BRCA mutations can occur in anyone, they are more common in Jewish people of Ashkenazi (Eastern European) descent than in other ethnic and racial groups.
“Tania’s story will stick with me,” Geurts recalls. “Here she was, a young mother faced with a gene mutation that meant she had up to an 80 percent chance of getting breast cancer in her lifetime.
The knee-jerk reaction would have been to say, ‘Take my breasts off.’” But, Geurts says, it’s important to have conversations around the day-to-day implications of that decision and arrive at an answer that the patient will be confident about for the rest of her life. “How can you make such a life-altering decision knowing that you just had some huge, shocking information? If you choose surgery, you cannot go back on that.”
In Nilles’ case, there were three options. First, enhanced screening (also called early-detection prevention), which would mean twice-yearly mammograms, MRIs, pelvic ultrasounds and blood testing. A second possibility was chemoprevention (pill therapy), with either tamoxifen or raloxifene. The third and final choice: surgery. Options down the surgical path included bilateral mastectomy and bilateral salpingo-oophorectomy (both of which Angelina Jolie had), hysterectomy (removal of the uterus and sometimes the cervix), oophorectomy (removal of the ovaries only) and/or salpingectomy (removal of the fallopian tubes only).
“An important part of the conversation about surgery as an option is about timing and support, especially for a woman with young children,” Geurts says. “Who would pick up Tania’s baby when he’s crying? Who would fold the family’s laundry? The recovery takes weeks and weeks, and the patient has lifting restrictions, nothing over 5 pounds.”
To help Nilles with the decision, Geurts explained how her statistical 80 percent chance of getting breast cancer did not mean it would develop tomorrow. That 80 percent was her lifetime risk, living to 70 or 80. Her actual risk of having breast cancer at that time was low. The key question was how the risk might play out over time.
“For several months, my husband and I didn’t know what to do,” Nilles recalls. “There was a black cloud over my head. I kept obsessing about it.” Nilles began the early-detection approach, but found the breast MRI extremely uncomfortable. The dye that got injected before the MRI made her nauseous. She and Chris rehashed the options with Geurts.
“I finally decided that early detection is just that, detection, and what would be detected is cancer,” she recalls. “If I were to get cancer, I would have to have surgery anyway and also have chemo and radiation. I decided that for me, and for my family, I had to do something else.” She and Chris reasoned that it would be better to have the big surgery now when she is healthy. There would be short-term discomfort, but then she could get back to her normal life.
In the winter of 2012, they interviewed OB-GYNs, gynecological oncologists, reconstructive surgeons. “It was doctor appointment after doctor appointment,” she says. In the end, Nilles chose what is called prophylactic (preventive, risk-reducing) surgery, specifically removal of both breasts (a bilateral mastectomy). She decided to delay the surgery until July 2012, when more help would be available and before her older son started the school year.
“I was cool as a cucumber until five minutes before the surgery was to start, and then I started to freak out,” she recalls. Chris, Geurts and the hospital staff reassured her that she was making the right choice, and the surgery proceeded – and went well.
The months that followed were tough, however. There were a lot of restrictions during the six-week recovery period, including a ban on lifting her then-17-month-old son. Chris arranged to stay home from work several days a week (“His director was very understanding,” Nilles says), and a variety of helpers – family members, friends, neighbor moms – pitched in.
“I was so exhausted,” Nilles recalls. “I felt like a burden on everyone. It was hard to feel like the matriarch of a family when I had to say every day, ‘Sorry, guys, I have to take pain pills and a five-hour nap.’” At the same time, she says, it all came back to: “I don’t want to get cancer.”
Another decision Nilles had to make was whether to have reconstructive surgery on her breasts. The usual choice is breast implants, filled with either saline (salt water) or silicone gel. She again consulted with Geurts. “One of the many conversations that a woman needs to have during the decision-making process is how implants will affect her sexuality,” Geurts says. “Even though Chris was thoroughly supportive, Tania admitted that she had some insecurities.” Geurts told them that the insecurity is understandable, but if it becomes a continuing issue that affects their relationship and their sexual health, they need to engage a professional counselor.
A positive part of Nilles’ reconstruction process was that she and her husband had a good rapport with her plastic surgeon, Dr. John Hijjawi at Froedtert. She recalls, “There Chris and I are, sitting in Dr. Hijjawi’s office, and he is touching my breasts and marking them for surgery. He pauses and says, ‘Are you both OK, short of the fact that your husband is here and some strange man is touching your breasts?’ We all laughed.”
Hijjawi says there are two major factors that help him decide what direction to go with breast reconstruction. The first involves any medical issues, such as previous surgeries, the patient’s health status and the need for other treatments. “First, we make sure we protect our patient from choosing a medically inappropriate or unsafe choice,” he says.
The other factor is the patient’s desires. “What makes sense to her, what is her gut sense of things?” he says. “What type of procedure is she interested in? Has she been influenced by a relative or friend, by the media? This is especially true in the world of preventive mastectomies with BRCA.” From there, Hijjawi goes with the reconstructive choice that makes the most sense to the patient. “The people who are the happiest with their reconstruction over time are those who have fully participated in the decision,” he says.
Participation – not just by the patient but by her spouse as well – is key. “I try to engage the spouses as much as I engage the patients,” he says, “because often, the spouse is more nervous. We’re taking care of the whole family.” He recalls one of the “neatest” conversations he had was with a 9-year-old boy whose dad asked for a man-to-man conversation among the three of them about the boy’s mom and her care.
For her reconstruction, Nilles was hoping to go “direct to implant,” meaning the implants would be put in right after her breasts were removed. But a circulatory problem necessitated tissue expander saline implants. These required weekly visits for six to eight weeks to inject additional saline – kind of like pumping up a balloon – until the skin was stretched to the size Nilles wanted. She describes the process, which began in September of that year, as very painful.
“They overfill you to give you more stretch,” she says. “My breasts felt heavy, plastic – like Tupperware.”
Although Nilles was disappointed, Hijjawi explains that her situation is not uncommon – only about 20 percent of his patients can go directly to a full-sized implant. In November, Nilles had a second surgery, an implant exchange, during which the expander was removed and permanent silicone implants were put in place. Hijjawi had recommended them over saline as looking more natural.
Nilles recalls that recovering from the implant surgery was “easy peasy” compared to recovering from the mastectomy, although she had the same lifting restrictions for about six weeks. She returns to see Hijjawi once a year for a check of her implants. “The scar on my left breast is bigger than I would like, which irritates me sometimes, but in the grand scheme of things, it doesn’t matter,” she says.
The goal of reconstruction is to have breasts that feel as natural as possible, and Nilles thinks she has achieved that. “Here I am, three years later. Sometimes I even forget that I have implants, unless I move in a weird way and get a pain,” she says. She also notes that her older son doesn’t even remember that difficult period in their family’s history.
“Sometimes I’ll say to my husband, “Are you OK that my boobs are fake?’ and he’ll say, ‘They’re just great.’ And I must say, Dr. Hijjawi did a wonderful reconstruction – I have great ‘lift.’”
Another reconstruction method is the DIEP Flap. After a mastectomy, blood vessels called deep inferior epigastric perforators (DIEP), plus the fat and skin connected to them, are removed from the lower abdomen and transferred to the breasts to reconstruct them. This is done without sacrificing any abdominal muscles, which used to be the standard procedure. “We haven’t done that for 10 years,” says Hijjawi. “The negatives of that on the patient long-term outweighed the benefits.”
One successful DIEP Flap patient is Megan Struve, a 34-year-old wife, and a mother of two young girls (ages 9 and 5). She’s a social worker at Children’s Hospital and a carrier of the BRCA1 gene mutation. She had a hysterectomy (removal of the cervix, ovaries and fallopian tubes) in October 2013, and a bilateral mastectomy in April 2014. The decision about the hysterectomy, she says, was a “no-brainer.” First, she was concerned that with ovarian cancer, by the time something comes back on a test, it is already at an advanced stage.
Struve’s motivation for her surgeries was similar to Nilles’. “I had two little girls, and I didn’t want them to have to watch me go through cancer treatment,” she says.
Regarding the possibility of breast cancer, Struve first thought surveillance would be enough. But then she changed her mind. “Both my husband and I decided we were not going to go through the testing every six months while basically waiting for a positive result.”
Struve was a good candidate for DIEP Flap because she’d lost 70 pounds a few years back. “If I have to go through this, it’s nice to get a little benefit,” she says with a smile. “Somebody with a low body mass index wouldn’t be a candidate.” She also liked having it all done at once. “I went to sleep before the mastectomy and woke up when the reconstruction was done. Ten hours in one day.”
One problem with a hysterectomy or oophorectomy is “instant menopause.” Struve had a long conversation with her OB-GYN, Dr. Julie Webb of Columbia St. Mary’s, and they decided to start hormone replacement therapy (HRT) immediately after the hysterectomy to “guide me into menopause.”
Webb points out that menopausal symptoms come from estrogen withdrawal, and with spontaneous menopause, estrogen gradually decreases over time. But a sudden drop brings on symptoms with a vengeance: hot flashes, night sweats, weight gain, increased anxiety or irritability, pain during intercourse due to vaginal dryness. “By tapering off, we hope to have a less-severe onset of symptoms,” Webb says. “We can mimic spontaneous menopause with HRT and slowly decrease the dose.”
But, she cautions, the use of HRT should be temporary. “The whole purpose of taking the ovaries out is to take the estrogen away, because it increases risk of cancer. Then we turn around and give a woman the hormone. It has to be short-term, or you’re defeating the purpose.”
As for Struve, she’s relieved. “Now, it’s over,” she says. “A year out from the mastectomy and almost two from the hysterectomy, I have to say I have zero regrets.”
“Instant menopause” is one reason Tania Nilles has delayed having a hysterectomy, oophorectomy or salpingectomy (removal of the fallopian tubes).“It has been harder for me to make a decision about my ovaries than my breasts,” she says. “I’m concerned about the hormonal disruption, plus keeping your ovaries helps protect your heart and bones.” For now, she’s being screened every six months. She’ll likely have her fallopian tubes removed in the spring, then have her ovaries removed after completing menopause.
Although women with the BRCA gene mutation typically have their breasts removed first and then decide about their ovaries, some do the reverse. Courtney Monson’s reasoning was just the opposite of Nilles’. After learning in early 2013 that she had the BRCA2 mutation, she had a hysterectomy/oophorectomy in July of that year. “The decision was a no-brainer for me,” says the Kenosha mom of three. “I was done having kids, and my mom and aunt had had the surgery, and it seemed pretty easy. Plus, ovarian cancer is worse than breast cancer because there are no symptoms until it’s so far advanced.”
Monson, now 35, chose to not use any medication to counter her “instant menopause,” though she did experience menopausal side effects such as irritability and weight gain. Still pondering whether to get a mastectomy, she is doing surveillance with annual mammograms.
Jennifer Meyer-Stearns is another woman who had a hysterectomy/oophorectomy first, in 2010 at age 40, then a bilateral mastectomy in January 2015. A wife and mother of two boys, now 11 and 6, and a policy analyst for the city of Milwaukee who lives on the East Side, she has a fraternal twin sister who does not have the gene. “I’m the unlucky twin who got it,” she says.
Her mother had breast cancer in her 30s and died of ovarian cancer in 2010 at age 64. Meyer-Stearns, now 45, had her test shortly after her second child was born in 2009. “My mother was still alive then, but pretty sick, and when the test came back positive, she said, ‘I really want you to have your ovaries out.’ This was opposite from what the doctors recommended, but I did it first, in some ways to honor my mother.
“But,” she adds, “I also think I was hesitant because the breasts are on the outside. I didn’t want to let them go. Body image, that sort of thing. The internal stuff is not so apparent.” For the mastectomy, she waited 3 1/2 years until her younger son was older.
Meyer-Stearns’ mastectomy plans were moved up when, in July 2014, doctors monitoring her breasts every six months found a very aggressive cancer in one of her lymph nodes. She had chemotherapy from August to mid-December of 2014 and had the mastectomy in January. After she healed from the surgery, she had radiation treatment, which concluded in May. Meyer-Stearns is cancer-free right now but gets PET scans every three months to “make sure the cancer didn’t sneak off anywhere.”
“My doctors told me I dodged a bullet,” she says, “so I want to shout from the rooftops, ‘If you are a BRCA carrier, you need to be proactive!’”
One misconception is that the gene mutation is carried only on the mother’s side. Mother-and-daughter cancer survivors Jill (mother) and Gina (daughter) Karas found otherwise. Jill’s grandmother had died of breast cancer, so Jill’s doctor recommended regular mammograms starting in her 30s (the typically recommended age is 40). In 2008, at age 47, she was diagnosed with breast cancer, which was treated with a bilateral mastectomy but no chemo or radiation. Genetic testing indicated she is negative for the BRCA gene mutation.
“I’m so glad I stayed on top of my mammograms,” says Jill, a transportation technician at Rockwell Automation who lives in St. Francis. “Go to your doctor and get your answers.”
In 2013, 29-year-old Gina, who also works at Rockwell, as a supply chain planner, was diagnosed with breast cancer after feeling a lump in her breast. It was diagnosed as stage 3, and she had a bilateral mastectomy and 22 rounds of chemotherapy but no radiation. She tested positive for the BRCA1 gene; because Jill tested negative, this means the gene is carried on her father’s side.
Gina, a Pewaukee resident, has found significant support from the American Cancer Society, particularly through a survivors’ support group. “Cancer weirds you out,” she says. “Every cancer survivor would say that even if you’re a survivor, you still have some anxiety. If I have a high-anxiety day, I can contact someone in the group for help. It’s very empowering.”
Not all women who carry the gene are as proactive as the women interviewed here. In fact, some ignore the warnings altogether. Genetic counselor Geurts says there are two camps of people. “Those who are proactive say to themselves, ‘I realize I’m at risk, this is the hand I was dealt, I have to do something about it, I don’t want to be the victim of family history.’” The other camp tends never to make it to her front door, she says, thinking that the problem is too stressful to deal with. If they ignore the problem, they hope, it will go away.
“Some even think there is nothing they can do about it, which is so not true,” she says. “Early detection is so huge for cancer outcomes. If we can detect early, we have a really good chance at a cure. Previous generations were not afforded this.”
Webb agrees that some of her patients avoid the issue. “People have different personalities in how they handle these things,” she says. “I believe in preventive medicine and like to be proactive. It’s nice when patients feel that way.”
Geurts adds that when families are gathered, it’s important to have conversations around the dinner table about family history, especially family medical history. “It’s not prying, not being nosy. It could impact your health – even your life,” she says.
Geurts points out, however, that patients must be at least 18 years old before they’re eligible for testing. “At 18, we feel they can make medical decisions for themselves,” she says. The general guideline is that the BRCA carrier have whatever surgeries are needed 10 years before onset in the parent or relative who had cancer, if that information is known.
Megan Struve is one mother who will encourage her daughters to get tested. “My girls have a 50 percent chance of inheriting the gene. All I can hope for is that medicine will have made enough progress that when my girls turn 18, there will be more treatment options.”
Carolyn Kott Washburne is a contributing writer for Milwaukee Magazine. Write to her at firstname.lastname@example.org.
Advice From the Women Interviewed
Most women who carry the BRCA gene mutation are more than willing to share their stories and advice to help other women. Dr. John Hijjawi, the plastic surgeon who did Tania Nilles’ reconstruction, isn’t surprised. “The amazing thing about these women, some of whom no one ever saw out of their bathrobe, is that they are making an effort to support and educate other women,” he says. “They are completely sharing of themselves and their situation, and that’s the rule, not the exception.”
Here is advice from some of the women in this story.
When I hear people complain that mammograms hurt, I think, “Cancer would hurt a lot worse.” If you can hold your breath for that long, you can deal with it. —Courtney Monson
If it’s determined that you are BRCA-positive, reach out to family members. I told them all immediately. And I found cousins on Facebook I’d never met and told them; many of them have been tested. —Gina Karas
If you are diagnosed with BRCA, put your head down and take care of it. Early. You can’t exercise your way out of it or eat your way out of it.
The diagnosis is like getting hit with a brick. You have to go through a lot of emotions first, but once you get past that, take a deep breath and prepare to fight. —Jill Karas
It’s ironic that I would say, “Don’t let it control you,” because I’m a very anxious person about medical stuff. But over the course of a few years, my anxiety seemed to get better knowing the tools I have available to me. —Courtney Monson
The decision about treatment is incredibly personal and individual. I knew what was right for me. Other people need to make their own decisions. —Megan Struve
I never used the word “cancer” with my kids, either about my mother’s or the possibility of mine. They would fill in that word with their own stuff. I just said I needed to rest and take medicine to keep me healthy. —Tania Nilles