Breast cancer can be devastating, and unfortunately, it’s not uncommon. There are more than 35 million women with a history of breast cancer in the U.S., and its death rates are one of the highest among all cancers, exceeded only by lung cancer.
Considering some women inherit gene mutations that can increase their risk of a diagnosis, genetic testing, which uses DNA to identify harmful mutations of the BRCA 1 and BRCA 2 genes as well as other high-risk gene mutations, can be an invaluable resource for those who meet the testing criteria. That gauge includes those with a personal history of certain types of cancers, those who experience an early age onset of certain types of cancer (this is generally defined as 50 and younger) and those with a combination of certain types of cancers (such as breast, ovarian, prostate, and pancreatic) within their family history.
Armed with information from a genetic test, genetic counselors can then “equip people with the information needed to make an informed decision,” says Altovise T. Ewing, PhD, LCGC, a licensed, certified genetic counselor and genomic health equity scientist. “In some cases, a genetic testing result could help guide the type of treatment that is offered to a patient or it could allow us to better tailor and personalize the types and frequencies of screening modalities that are recommended.”
And your results may not just be beneficial to you. “The information is also helpful for family members because if we know that there is a gene mutation present in the family, then we know that first-degree relatives—children, siblings, and parents—have a 50 percent chance of carrying that same gene mutation.” says Ewing. In some instances, this could help prevent the occurrence of cancer in family members or offer the opportunity for early detection.
These four women—all in different parts of their journey—received genetic testing. Here, they open up about their diagnosis, why they got genetic testing, and how it informed the next steps in their fights against cancer.
Note: When considering genetic testing, it’s important to talk with your physician about if and how it may benefit you.
Lyndsay Levingston Christian, 38, Texas
In the summer of 2019, Lyndsay Levingston Christian felt a lump in her right breast while doing a self-exam in the shower. Fear washed over her. “I was scared to even think it was the ‘C’ word,” Christian says. But after numerous screenings—a regular mammogram, a 3D mammogram, an ultrasound, and a biopsy of the grape-sized mass, which “hurt so bad,” her worst fears were confirmed. Her doctor diagnosed her with Stage IIB breast cancer. “I cried and cried,” says Christian.
Christian, who is a multimedia talent and host, and an adjunct communications professor who teaches media writing, relocated from New York City back to her hometown of Houston to undergo treatment. This way, her family could be nearby to support and care for her. Her plan: Fifteen rounds of chemotherapy (which she started in August 2019), a lumpectomy to remove any remnants of the mass, and six weeks of radiation. In October, midway through Christian’s treatment, she received a call from a paternal female cousin who was diagnosed with breast cancer at age 29, making her aware of her family’s history with the BRCA 1 gene mutation. “I learned that I’m the thirteenth women on my dad’s side to be diagnosed with breast cancer,” Christian says.
Because of this new information, her care team advised she have a genetic test. “The results revealed I was positive for the BRCA 1 gene mutation, which puts me at a higher risk for breast and ovarian cancers.” (According to the Centers for Disease Control and Prevention, 10% of ovarian cancers result from inherited mutations in the BRCA1 and BRCA2 genes.) The news put a wrinkle in Christian’s surgical treatment plan. In fact, it totally flipped her plan on its head. “I went from thinking I was just going to have a bit of tissue removed to my doctor now recommending a bilateral mastectomy to remove both of my breasts. And based on the results of that, no radiation, prayerfully, would be needed.”
On December 30, Christian “rang the bell,” a tradition among cancer patients signaling the end of chemotherapy. “It was very symbolic for me. It was me ringing out of this part of my journey and ringing into the new year chemo-free.” Since then, Christian has had a bilateral mastectomy, gotten reconstructive breast surgery, and has also had her ovaries and fallopian tubes removed as a preventative measure. And on February 14, 2020, her doctor called to let her know she was in remission.
Looking back, Christian, who wasn’t as close with her dad’s side of the family, wished she had been more knowledgeable of her family health history. “The BRCA1 gene runs rampant on the paternal side of my family. Knowing this earlier could have changed the trajectory of my health journey,” she says. Yet she is still grateful for what she went through.
“I got to reconnect with my mom and other family members during my treatment. I launched SurThriver™, a platform that informs, inspires, and empowers women around breast cancer awareness and wellness,” she says, adding, “And most importantly I am alive.”
Deltra Kroemer, 34, Connecticut
Last year, Deltra Kroemer, a full-time homeschool educator, began doing regular breast self-exams. Her decision came after she saw a friend, who’d recently caught her breast cancer early, post on Facebook about the importance of the monthly exam.
During one of Kroemer’s self-exams, she noticed a “good-sized” lump. She wasn’t worried since she didn’t really have a family history of breast cancer, but decided to get it checked out anyway. Kroemer went to her long-time doctor who also felt the lump, and subsequently made her an ultrasound appointment, during which the technician became concerned and called for the doctor, who then scheduled a biopsy. At that point, “I was in what is called ‘scanxiety’ in the cancer community, and I hadn’t even been diagnosed yet,” she explains.
A few days later, while in the midst of baking with her five daughters— ages 14, 13, 10, 7 and 5— Kroemer received a call from her oncologist. She took the call in the bathroom so she could have privacy. Her doctor said that “unfortunately the results weren’t what we were hoping. It’s cancer.” In shock, Kroemer gathered herself, took a deep breath, and went back to baking with her kids. “I didn’t really give myself the opportunity to have a breakdown until later that day.” And her diagnosis certainly didn’t feel “real” to her until she heard herself telling her husband, her mother, and her sister.
Kroemer would not find out for another month that her diagnosis was De novo Stage IV metastatic, meaning her cancer had already spread beyond her breasts at the time of her initial diagnosis. (The majority of patients with this type of cancer do not survive for more than 5 years after diagnosis.) “The cancer was already in my liver when I was screened for staging,” she explains. Kroemer immediately began researching, speaking with other cancer patients with her same diagnosis, and getting second opinions. “People thought I was crazy because I took a whole month to decide what I wanted to do, but there was no rushing me,” explains Kroemer, who said she was arming herself to start her battle, which began in August 2019.
Her doctors had ordered several tests right off the bat, including a genetic test, so Kroemer knew she had the BRCA1 gene mutation. Kroemer asked her team to consider her chances of developing other cancers, like ovarian, which was higher for her, with her mutation, than for the average person. So, as a preventative measure, she had her ovaries removed at the recommendation of her care team.
Genetic testing also put her on alert as it pertains to the health of her daughters, since they, too, can have the gene mutation. While they are too young to be tested, “I do talk to my oldest children about the gene mutation I’m living with,” she says. “Not often, as I don't want to create anxiety—having a mother who is living with cancer can do enough of that—but I do want them to understand the increased risk,” she says.
Despite a Stage IV diagnosis, Kroemer didn’t want to just start with “hardcore chemo,” which is one reason she and her care team decided to do immunotherapy followed by chemotherapy. Initially Kroemer responded well to her treatment course, which required her to be at the cancer center for three and four hours at a time. It shrunk the mass in her breast way down and knocked out the singular metastasis on her liver. By April 2020, though, she could feel the lump in her breast again. A mammogram and a biopsy confirmed her lump had started re-growing, its biology had changed, and the current treatments were no longer working.
While Kroemer, who is currently considering having a lumpectomy, is still undergoing treatment, she still reminds herself to “Live your life to the fullest. What’s more important to me is not the time that I have left but what I do with that time. I am thinking about the legacy I want to leave.”
Carmela Fuca, 30, Ontario
Carmela Fuca
Most of the women on Carmela Fuca’s maternal line have breast cancer, including her mother and grandmother. Through genetic testing, her mother tested positive for a BRCA gene mutation (and later had a double mastectomy), prompting both Fuca and her brother to also have genetic testing. Fuca, who then was about 25, found out she too was positive for the mutation.
“My initial reaction was I am going to get a preventive double mastectomy right away,” says Fuca, who had just graduated from Teachers College at Columbia University and was about to move to England to start her career. But after thinking about it more, she decided she wasn’t ready to have an elective surgery, so she put a “pin” in it. “It’s really hard when you are completely healthy to have a surgery like that,” she says.
However, as Fuca neared 30, she decided it was time, and scheduled her double mastectomy for February 2020. “My mother was 41 when she was diagnosed with breast cancer. With each generation the cancer usually occurs earlier. So I knew as I got older, my risk of cancer was increasing,” Fuca says. Two weeks prior to her surgery, Fuca began grieving the impending loss of her breasts.
“I was really upset, stressed out and crying all the time, and I realized that it wasn’t doing me any good. So, to mentally prepare myself for my surgery, I started to look at myself and appreciate my natural body. One day I was touching my breasts and I thought ‘my tissue isn’t going to feel like this anymore,’” she says. That’s when she felt a “golf ball-sized lump.” Fuca’s biopsy results, which she learned the morning before her surgery, revealed she had breast cancer, but they were unable to tell whether it was Stage II or Stage III. (A week post op, her oncologist informer her it was Stage III Triple Negative—a very aggressive form of cancer.)
Her doctor encouraged her to come in to talk through other possible treatments, like chemotherapy, but Fuca just wasn’t able to process what her doctor was telling her. “I was instantly full of anger and regret,” she says of her decision to wait so many years to have surgery, thinking that if she had acted sooner, she may not have cancer now. Plus, she had scheduled a photo shoot to preserve the memory of her breasts and she didn’t want her recent diagnosis to ruin that, so she suppressed her feelings and told her family she didn’t want to talk about it.” The next day, she went in and had her double mastectomy.
After the surgery, she learned the cancer had spread to her lymph nodes and that she would need additional treatment. Concerned that chemotherapy would cause reproductive issues, Fuca and her partner had to jump from family planning mode to fertility preservation. After completing in vitro fertilization (IVF), Fuca did four months of an aggressive regimen of chemotherapy, had a month break, and then resumed treatment with radiation for another three weeks. “The month between chemo and radiation was probably the hardest part of this whole journey,” says Fuca. “I was able to stop just coping and actually deal with all of my emotions—it was rough.” Not to mention COVID-19 made things harder as she was forced to do all of her treatments alone.
These days, Fuca, whose blog Previvor2survivor is a resource for prevention, treatment tips, fertility preservation, and mental wellness, says she is starting to regain her strength and energy. She also notes that this process has taught her to be kinder to herself. “I’ve gotten good at reframing my perspective,” she says, “knowing when I can be tough and when I can’t and when I can be positive and when it’s not realistic.”
Brenda Dixon, 65, Georgia
Two days after Brenda Dixon, a retired Georgia Public Health Medical Laboratory technologist, had her annual mammogram, she got a call saying that they had found something on her scans. The mass was at 12 o’clock on her right breast and roughly 5 mm in size. She was told that she needed to come back in for further testing so that they could determine whether it was a benign cyst or cancerous. So Dixon went back in to see her doctor and have an ultrasound. Two days later she received her results: It was Stage I breast cancer and it was hormone receptor positive, which is a slow growing, non-aggressive type of cancer. “I remember seeing the number on the caller ID and knew it couldn’t be good,” says Dixon.
“I will never forget that call. I was happy that they at least caught the cancer early, so I felt some relief, but the stress and anxiety of the cancer was still building. It was devastating.”
Dixon’s physician explained that genetic testing was an option, and one that she should take, considering there was a history of cancer— thyroid, ovarian, prostate, and breast— on her father’s side. Dixon decided to take the test. “Initially, the discussion, based on the size of the mass and that it was Stage I, was to have a lumpectomy as opposed to mastectomy,” she says. Dixon decided to go with her doctor’s recommendation, but kept in mind that if the genetic testing results showed that she had any cancerous gene mutations, she would consider a mastectomy. “It turns out I didn’t have any mutations, so we decided to continue with the original plan of a lumpectomy,” which Dixon had on November 5. And even though Dixon did not test positive for any hereditary gene mutations, she says that she has been sharing the information with her family and encouraging genetic testing because of their family history.
During her lumpectomy, the doctor also took out her sentinel lymph node, which is located in the underarm closest to the breast cancer to check and see if the cancer had spread. Thankfully Dixon’s lab results came back clear, and she will be soon be starting radiation. Her team has not yet determined if she will need chemotherapy.
As Dixon continues on her journey, she notes that her strong support system has been integral in helping her stay on top of all of the information being thrown at her, keeping her spirits up, and for those who have experienced their own cancer diagnoses, serving as a source of inspiration. “I look at how they came through it and that means I can too,” she says, noting that one of the most important lessons she’s learned during this process so far is to pay attention to your body. “It talks to you, we just don’t always pay attention.”
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