Women Who Got Tested for the Breast Cancer Gene Tell All
Women Who Got Tested for the Breast Cancer Gene Tell All
The "breast cancer gene," also known as the BRCA genes, are the genetic markers with the strongest link to breast cancer risk. There are two of them - BRCA 1 and BRCA 2 - and thanks to developments in medical science, patients can now be tested for warning signs in both.
The BRCA genes don't cause breast cancer - that distinction is important. Every human being has these genes. They actually help prevent the growth of cancer by repairing breaks in DNA that can lead to tumor growths. Some people, however, have specific mutations in the BRCA genes that make them work differently. These changes in function increase the risk of breast cancer. The mutations of the BRCA genes are also often passed down through generations, and this is thought to be part of the reason breast cancer is hereditary.
Women with a family history of breast cancer can get tested for the gene, giving them strong clues as to the likelihood that they'll have cancer later in life. As a preventative measure, many women will opt either to be routinely checked for tumors more often or to undergo surgery and get a mastectomy. The mastectomy, while a difficult and trying process, radically decreases their risk.
We talked to six women who tested positive for the gene; the test results had immeasurable impacts on their lives. Though the experience of battling breast cancer is something none of these women would wish on anyone, they all agreed: Their lives have actually improved after getting genetically tested. Alongside their hardships and struggle, they met incredible people and embarked on a transformative journey. The results affected their relationships with their bodies, their families, and ultimately themselves. In hearing these strong women's vulnerable stories, we loved talking to and getting to know every single one. Here's what they had to say.
Ruth Trinidad was tested for the BRCA genes at age 38, two years ago. She tested positive for BRCA 2.
"My initial reaction to my positive result was kind of like a slap in the face," Ruth said. "I suspected I was positive, but it wasn't real until it was real."
Ruth knew immediately that she was going to have a mastectomy - and that the road to recovery wouldn't be easy. "For most of us, it's an up and down roller coaster," she said. "You can be afraid of things or you can just take control of things. I chose to take control, and to take whatever means necessary to be proactive." Shortly after getting her test results, Ruth had a prophylactic bilateral mastectomy.
"After the mastectomy, I had deep reconstruction," Ruth said. "Now I'm just monitoring. But it was a struggle, with me being the head of my household - the strength, the backbone of my household. Me being down at my lowest and needing to rely on other people was hard."
But Ruth knew that that same reason was why going through the surgery was essential. "I needed to do these surgeries, so I could continue to be here for my family," she said. "I needed to be able to be that strong person."
Lately, Ruth has been feeling good overall, and reports feeling pretty positive for the past year. "Since I've been feeling so positive, I've been trying to learn as much as I can," she said. Ruth is hopeful that this past surgery was her last, and considers herself one of the lucky ones.
Since recovering from surgery, Ruth has thrown herself into learning as much as she can about cancer and helping others to receive information. She's joined FORCE (Facing Our Risk of Cancer Empowered) and is flying out to San Diego this October to attend meetings and talk with other group members. FORCE is a support group for those with genetic forms of cancer. "We empower the people affected by cancer," she explained. "If they have questions, we either answer them or seek out answers for them if we don't know." The group also directs people to additional resources that could be helpful.
"I'm nervous!" Ruth said of her trip to San Diego. "I'm excited because it's a whole different way of learning. Most of what I've learned so far is from what I have researched and studied. But this is an enormous group of people getting together and just soaking in as much as we can - sharing our stories and sharing what we know."
Ruth said that she would encourage anyone considering getting tested for the genes to do it. "It's better to know," she said. "Our strongest power is knowledge; there is power in knowing."
To those who have tested positive for a BRCA gene, Ruth emphasizes the importance of education. "I just try to share as much knowledge as I have and let them know that it's going to be OK," she said. "It's not the end of the road. It's a positive thing to be able to take advantage of that knowledge."
As a final word of advice, Ruth says, "Don't Google everything! If you have questions, make sure you seek out your answers from a reliable source."
Before you read, you should know: Jess Walker is a pseudonym. The real woman behind this story's name has been withheld by her request. Due to anticipated pressure from insurance companies, she wanted to keep her true identity hidden for fear that her coverage would be revoked.
One of Jess's biggest worries related to her treatment is about insurance. "I am very concerned that because I've had the gene test, insurance companies may hold it against me in the future, either by requiring sky-high coverage costs or outright rejecting me," she said. There are currently laws in place to prevent this from happening, and Jess has discussed these worries with her doctor. But frankly, she says, "I just do not trust the current administration to keep these protective laws in place."
Jess Walker, 39 years old and currently living in New York, was tested for the BRCA gene in December 2017. The test came back positive.
"I think having the test gave me a feeling of control, most of all," Jess said. "Now that I know I am very likely going to get breast or ovarian cancer, I can take the preventative steps necessary to avoid cancer and the difficult battle that entails." Though Jess doesn't have any children, she feels receiving the test has empowered her family members, as well, so that they can decide whether they want to get tested.
Jess has yet to undergo any surgery as of yet - she has many specialists to see before making that decision.
In addition to fears about her physical health, Jess said a lot of her anxiety about the gene comes from other sources.
"What does it mean for my personal life? How will I look in my clothes? What if I hate my new figure? Will future intimate encounters not be as enjoyable because I'm losing a major erogenous zone? What if I meet the perfect man and we can't make it work because I am no longer able to bear children?" she said.
Walker is also moderately worried about the reconstruction process. "From having discussed with women who've had cancer, I have heard that there is a potential for side effects immediately after, and incredible pain," she said.
But despite her fears, Walker remains positive. "I think my outlook is pretty bright, if a bit stressful!" she said. "So many appointments to make, so many doctors to see... But I'm optimistic that once it's all handled, my risk for breast and ovarian cancer will be greatly reduced, and I'll hopefully have amazingly reconstructed breasts!"
To women who are considering getting the test, Walker says, "Just do it!"
Even though the test has spawned a roller coaster of emotions for Jess, getting the test has been rewarding. Jess watched her own mother battle breast cancer twice. "While it may result in short-term stress (and medical bills), I think it's worth it to be able to take the steps necessary so that I won't have to go through what she did," Jess explained. If you are able to take action earlier rather than later, "recovery from preventative surgery won't be as hard!"
When Sarah Davis was young, she watched each of the women in her family go through a diagnosis with breast cancer - including her own mother.
"Her cancer was a triple negative, which means it didn't respond well to treatment," Sarah recalled. "She had numerous rounds of chemo and radiation. She lost her hair, she had seven surgeries in one year... it was like constant surgeries."
Sarah's mother had a mastectomy; they took muscle from her back to form breasts. However, Sarah has watched her mother endure lifelong complications as a result, ranging from back pain to MRSA.
"She almost died so many times," Sarah said, "and it just became something where I thought, 'I can't go through what she's going through,' because every day I didn't know if she was going to live."
When Sarah was 16, her mother signed her and her siblings up for a clinical trial to get tested for the BRCA gene. At the time, the tests were still very expensive - the trial gave her family an opportunity they might not have had otherwise.
"They told me that I had the BRCA gene, and I didn't quite get it back then," she recalled. "But they basically told me that I didn't need to worry about much for a while. 'Just live your life and we'll revisit this in a few years or so,' they said."
Sarah began routine monitoring at age 20, concerned for her health after watching her mother endure a nearly fatal diagnosis.
"I did breast MRIs, pelvic exams, breast ultrasounds, blood work, and a physical exam with the oncologist every six months. For the past 16 years, I've been getting checked every three months. It's a lot of appointments," she said.
Sarah decided to get a mastectomy after college, after she was married and had children. "Once I stopped nursing my second child, I decided that I didn't want to wait any longer," she said, "I'm so happy my mother is alive and doing well, but there are a number of health effects that she'll never ever be able to escape. She has a heart defect from the chemo, her veins are all shot, and she had to have her back muscles cut out, so it's hard for her to lift things. She's an amazing grandmother to my kids, but I knew I couldn't face that."
Sarah is a single mother and wanted to get the surgery for her children. "The decision was clear," she said. "They need me."
So at age 31, Sarah had a mastectomy in January of 2018. There were many reconstruction options, but since Sarah had known she had the BRCA gene since age 16, she had a long time to do research and plan. Sarah opted for a nipple-sparing direct implant over the muscle.
"I chose over the muscle because I love weightlifting, and I didn't want a restriction on chest movement or anything like that," she explained. "That was my first surgery. My surgeon told me from the beginning that I would need to have multiple surgeries to get my breasts to look how I wanted. I've had six surgeries now, and I'm actually two weeks post-op from my sixth."
With every surgery, Sarah remembers that the first three months are the hardest. "It's a lot of boredom, a lot of loneliness, a lot of wishing that I could do things that I couldn't," she said. "But it's just a matter of patience." After three months, Sarah always starts to get out more, walk again, and feel a lot happier.
"Even though I have scarring, I feel more confident now," Sarah said. "But it's been a really long process to get here." Since her first surgery, Sarah has embarked on a yearlong journey towards feeling confident in her body.
Many women, including Sarah, feel self-conscious about scarring after surgery. "Especially now, I'm a single woman and having that conversation with a partner is really challenging," she said.
After her mastectomy, Sarah decided to book a boudoir photoshoot for herself. "It was a little bit scary and uncomfortable. I was nervous, but I felt like I needed to spend a day feeling beautiful. And it ended up being one of the most fun experiences of my whole year."
She left on a high; she told her cousin, who is a full-time plus-size model, about the shoot, and they decided together that this was something she should pursue.
"It's about celebrating my sexuality, and I absolutely love it. I started my Instagram because I wanted to reject the idea that I needed to have a man to share my photos with - I could just share them with everybody."
The response was bigger than she could have imagined. "I got private messages from women saying, 'Wow that's really brave! I'm married and I had a mastectomy and I can't even take my shirt off during sex,'" she said. "There were messages from people saying, 'I assumed I wouldn't be attractive anymore, but you look happy.'"
Sarah started a Facebook group, which now has around 600 women, to talk about fitness and nutrition for women with breast cancer. She started writing about her experience, blogging about the BRCA gene, self-esteem, her divorce... "Ultimately, the goal is to write a book," she said.
To women who are scared to get tested, Sarah said, "Don't be afraid! I have had conversations with people who are too afraid to be tested because they feel like they might have to have the mastectomy and lose their beauty. But that's so flawed!"
Sarah wants women to know that everyone has the right to make their own choice, but it scares her to think of the added risk in delaying.
"I want to demonstrate that it's still possible to live a very happy, joyful, peaceful, sexual, beautiful life. None of those aspects are going to disappear just because you either don't have breasts or because you have scars. You making the decision to save your life is the bravest thing you'll ever do."
"It's not going to take your beauty," she concluded. "It's going to enhance it, because you'll be stronger."
When Limor Beck was diagnosed with ovarian cancer at age 23, she knew she had to start considering the BRCA gene. "You're only 23," her doctor told her. "That's very young to get ovarian cancer. We should test for the BRCA gene."
"In my heart of hearts, I knew it was going to be positive," Limor remembered. "I just had a feeling. And sure enough, it was."
The fact that she had ovarian cancer made Limor feel sure that she wanted to get a mastectomy. If you are BRCA positive, Limor explained, you are twice as likely to get breast cancer as you are to get ovarian cancer. And Limor had already gotten ovarian cancer. "I needed to prevent breast cancer from happening to me too," she said. "As soon as I got the okay from my doctor when I was finished with my chemo, I opted to do a double mastectomy." Limor had the surgery at age 45.
Limor said that though the surgery was definitely difficult, she knew it was worth it. She wasn't worried about her appearance much at all. "I just told my doctor, 'I have all these bras, I've had them for years! Just do whatever you need to do to make me the same size again - so that I don't have to go out and buy all new bras.' And he did!"
Five years later, Limor is still cancer-free and incredibly thankful.
"You have two choices. You could either crawl in a hole and say 'woe is me' and not do anything, or you can fight," Limor said. "Oh my god, I fought every single day."
"When I went to the doctor initially, he said to me, 'There are three things that are going to help you get through this: Number one is your attitude. Then, it's your diet and exercise.'" Limor kept this in mind and made a point to stay positive every single day.
"When I was struggling and feeling the pain in my legs, I just remembered: I knew this was going to help me and that it was something good. In the end, the doctor said it made a huge difference. I helped myself."
Of the BRCA genetic testing, Limor said, "It gave me life. I didn't have to worry, I didn't have to go back to the doctor every three months to see if anything was there."
To young women who are nervous about getting tested, Limor gives the same advice she gave to her daughter when she was 23.
"It's up to you, whatever you decide," she remembers telling her daughter. "If you get the test done and you're positive, we will think of other ways that we can plan for the future that you would be able to have children." You should plan for a yes result and plan for a no, she says. For a negative result, the plan is obvious: celebrate. For a positive result, there is still reason to be thankful. You can plan to get earlier mammograms, to take the steps you need to in order to protect yourself.
To women who are older and considering getting tested for the gene, Limor has similar advice. "It's a personal issue," she said, "but do you really want to worry every single time you see the doctor?"
Treatments have improved, she points out-and insurance offers coverage for reconstruction. "You can be made whole again," she said. "Granted, some of the feelings are gone, but it's a small price to pay."
Now, Limor uses her experiences to help others. "I'm like the eternal optimist," she said, "and I always feel like everything happens for a reason. There was a reason that I got sick. I didn't know what the reason was, but I knew that I needed to do something with what happened to me to help others."
And she did. Limor now helps to run a website called healingfab.com, where she sells infrared gloves and socks to help patients manage pain.
"One of the side effects of chemo that stays with you is neuropathy," Limor explained. "I was suffering a lot. Chemo affects your nerves, and I was in a lot of pain." A friend had told Limor about a woman in Florida who sold infrared gloves after suffering nerve damage and narrowly evading paralysis.
"The products are infrared material infused into the socks; when you wear them, it goes into your body and helps you feel better," she said. I looked into it and ordered three pairs of socks: one for my mom who was on her feet all day, one for my dad who has pain in his legs, and one for me. We all felt better."
Limor contacted the woman selling the socks and eventually became her protégé, helping to invent gloves to help with pain in people's hands.
"It was never meant to be a moneymaker," she said. "It was to help people who felt sick from chemo, or any kind of pain associated with arthritis, or anything like that. It was such a good feeling helping others; it was like my way of giving back."
"You never know which brief moments will change the entire direction of your life," said Alejandra Campoverdi. "I certainly didn't expect a routine visit to the gynecologist in 2013 to alter mine." With a history of breast cancer in her family, Alejandra had a hunch she might have either BRCA 1 or 2. "When a nurse delivered the news that I had tested positive for BRCA2, the first thing I said was 'I know.'" And her life hasn't been the same since.
"When I realized that undergoing a preventive double mastectomy would lower my risk of developing breast cancer so drastically, it was a no-brainer for me," she said. Alejandra watched the women in her family struggle through cancer and knew she didn't want to have to endure the same.
"To be clear, what to do with this information is a very personal decision with no blanket right or wrong answer," she said. "Each woman must decide for herself what the pros and cons of surveillance versus surgery are. For me, it was an empowering decision to take my health into my own hands."
Alejandra decided she would eventually have a preventive double mastectomy, but monitor her health closely in the meantime. She's had yearly breast MRIs and mammograms, two breast ultrasounds a year, and two blood tests per year. She also conducted monthly breast exams.
Now, Alejandra is just beginning the surgical process; she will have her surgery completed this month. She recently underwent the first step of the mastectomy, called a "nipple delay." This process severs the blood vessels beneath the nipples so they must rely on vessels outside the breasts for blood supply. Alejandra and her doctors hope that the precautionary step will increase the likelihood she can keep her nipples after surgery.
"Sometimes you choose the issues you care about, and sometimes they choose you," Alejandra said. "My family's journey has illuminated the disparities in women's health when it comes to breast cancer awareness."
Going forward, Alejandra plans to dedicate her life to closing this gap in health care for women of color. "We must have more culturally competent conversations in women's health," she said. "As a Latina, I understand that there is a need for cultural considerations when addressing the health care needs of diverse and multicultural communities."
Alejandra believes that increasing awareness of these cultural considerations in healthcare providers can work wonders on improving the quality of care. Cultural miscommunications can breed a mistrust and fear of doctors - and this can be dangerous.
"My abuelita (grandmother) discovered a lump in her breast and did not go to the doctor for almost a year to have it checked out," Alejandra remembered. "She was scared of the doctor and she didn't have health insurance. If she'd had health insurance and a better experience with doctors, her death might have been avoided."
With this goal, as well as her own experience, in mind, Alejandra founded The Well Woman Coalition, an initiative aiming to empower women of color to have agency over their own health by cultivating awareness, education, and advocacy.
"These are hard conversations, but we can't afford not to have them," she said. Alejandra shares her journey with breast cancer on Instagram with the hope she can inspire others to take ownership over their healthcare choices.
To women who are considering getting tested for the BRCA gene, Alejandra says, "Information is empowering. What you choose to do with this information is a personal decision - but no matter what you choose, the important thing is to make an informed and intentional choice."
"I've thought a lot about my relationship with my breasts throughout this process," Alejandra said, "yet one message has been central to my experience as we reach our final goodbye. Our femininity is defined by much more than our body parts and our beauty. Our courage, our grit, and our soul are what make up our worth as women. Losing our breasts or altering our breasts won't take that away or change anything fundamental about our feminine power. We are whole - with or without breasts. Always have been and always will be."
Chelsea Couvrette was tested for the BRCA genes when she was 25 years old in August of 2016.
"I will never forget that call," Chelsea said, "when the hereditary cancer counselor called to tell me that I carry not only one, but both the BRCA gene mutations."
"There were a few minutes of complete silence on my end. So many questions were running through my mind. But they weren't questions about me or the prevention process - they were all questions about my daughter." Chelsea's daughter was a year and a half old at the time. Chelsea began to worry: What was the likelihood she had passed these genes on to her daughter? What if her daughter opted out of testing?
However, it was ultimately because of her daughter that she decided to go through with getting surgery.
"I was referred to an oncologist and plastic surgery team almost right away," Chelsea said. "After going through my mom's cancer diagnosis, I knew instantly that preventative surgery was the right option for me."
At age 26, Chelsea had a prophylactic bilateral mastectomy. "I endured a lot of complications," she recalled. She returned for corrective treatments multiple times, eventually having a total of seven revisions. "I was a mess. Emotionally, mentally, and physically drained. I spent so much time recovering from all the revisions that it consumed my daily life," she said.
"I struggled a lot with my body, and struggled with acceptance of the fact that I had 'lost' a part of me. I made the choice to have my expander removed and to take a break from the reconstruction process."
Approximately a year later, Chelsea returned to her surgeon for a latissimus flap reconstruction, which she is still recovering from. Once she heals, she plans to tackle exchanging her expanders with implants.
"Because I carry both genes, I am at a high risk for ovarian cancer, as well," she said. "Over the next few years, I want to focus on enjoying the time with no surgeries. I want to expand my family." Later, she plans to have a full hysterectomy.
"When I first heard the positive results of the test, I thought it was going to change my life negatively," Chelsea remembers. "But this past year has been the most empowering year of my life."
"I have accepted myself for who I am and what I have overcome. I fell in love with myself all over again." For Chelsea, opening up about her BRCA journey has turned her outlook into a positive one. "Hoping that one day I could inspire someone else going through what I was going through to make the choice, to not be afraid and to tackle the risk of cancer head on. Beat it before it beats you!"
Chelsea focuses on maintaining a healthy lifestyle and striving to be the best version of herself, "simply for my daughter," she said. "I can confidently say she is what has continued to remind me of why I chose to go ahead with the surgery in the first place."
To women who are going into testing for the genes, she says: "Breathe. Take the time to take it all in. Talk with your family, with your genetic counselors. Utilize the resources available to you. And always make a list of questions to ask your doctors. I always went in with so many questions in my head - but the appointments can be overwhelming. Write them down!"
If you're not sure where to start, here are some questions you should be asking your doctor, BRCA gene or not.