When Meg asked if I wanted to do a Guest Flaunt my first thought was “Why? There’s nothing outwardly different or unique about me.” I always tell my children that each of us is special in our own way. I firmly believe that. Upon reflection, I see that I do have a story to tell and perhaps it will inspire or help someone else.
My story starts in 1999. I was in my early 30s, recently married and entrenched in my career. My paternal aunt had recently been diagnosed with breast cancer but they caught it early so it didn’t cause too much concern. That is, until I received a call from her explaining that the doctors found that she carried an inherited BRCA genetic mutation that ultimately put her at very high risk of breast and ovarian cancer.
She received her diagnosis and treatment at Sloan Kettering in NY. They were doing a study on families of Ashkenazi Jewish descent to determine how prevalent BRCA mutations were in this population. Because my aunt’s cancer was premenopausal—a red flag for hereditary cancer—she was asked to undergo genetic counseling and testing. Ultimately, the testing revealed that she carries a BRCA1 mutation. Her call that day was to explain that they were offering to test family members, free-of-charge.
The connection between increased cancer risk and the BRCA1 and BRCA2 genes had been discovered in the early to mid-90s. Genetic testing for BRCA mutations had only been available for a few years. Ideally, my father would have been tested first but he seemed hesitant to do so (yes, men carry the mutation too!). As the next oldest female in the family, my aunt explained that I had the most at stake. To be honest, I only vaguely remembered hearing about the discovery of a “breast cancer gene.” “No biggie” I thought. My aunt’s mutation and cancer were an aberration.
That said, participation in the research seemed like the right thing to do. I underwent counseling and testing through a similar study at a local research hospital, and was stunned when 3 months later they revealed that I too carried a BRCA1 mutation. Upon closer scrutiny, it appears that my grandmother’s lung cancer was a metastasis and one of my great grandmothers died of “female issues” in her 40s. The genetic counselor I saw was fabulous, but that didn’t change the reality of my newfound knowledge. My lifetime risk of breast cancer was as high as 87% and risk of ovarian cancer was up to 60%. These cancers often strike younger and are more aggressive than sporadic cancers.
The recommended regimen was a big departure from that of an average 32 year-old woman: visits with a breast surgeon, and alternating mammograms and breast MRIs every 6 months to screen for breast cancer. Transvaginal sonograms and CA125 blood tests in an attempt to screen for ovarian cancer. Unfortunately, the screening modalities for ovarian cancer are quite ineffective so I was encouraged to move along with starting my family and consider removing my ovaries by age 40.
You can imagine the gravity of a recommendation such as this for a single woman. Luckily, I was married and we were planning to start a family soon. I promptly tucked any recommendations involving surgery into the back of my mind while going about my life—and frequent doctor’s visits.
As an interesting side note, there were concerns about potential discrimination against BRCA mutation carriers so it was suggested that my doctors refrain from noting my mutation in my medical charts. It’s hard to justify intensive cancer screening for a 32 year-old but my doctors found a way.
Fast forward 8 years later…I had 2 beautiful children, ages 6 and 3. Information about BRCA mutations was more available. There was additional, extensive research confirming the risks associated with hereditary cancer syndromes—and occasional media stories about affected families. As I approached my 40th birthday, I stumbled across an article summarizing a study that showed removal of a woman’s ovaries and fallopian tubes not only reduce her risk of this deadly cancer by over 95%, but it also cuts her risk of breast cancer in half.
“Not so fast,” my husband exclaimed! “Removing your ovaries will plunge you into menopause. There must be another option.” After visits with 4 different gynecologic surgeons and one call to a leading researcher, we learned that there really wasn’t another option. Even today, there’s no good early detection for ovarian cancer. I could keep my ovaries and play Russian roulette, or remove them and cut my risks substantially. Looking at my children, I knew what I had to do.
But there are risks associated with menopause as well…increased risk of heart disease and osteoporosis just to name a couple. Hormone replacement therapy has gotten a bad rap due to the Women’s Health Initiative and other studies. I discovered a new resource, however, that had data to the contrary for younger women—especially those in surgical menopause. FORCE, which stands for Facing Our Risk of Cancer Empowered, is an organization specifically focused on the hereditary breast and ovarian cancer community. Their comprehensive virtual library revealed that when data from these studies was re-analyzed to focus on younger women, an entirely different risk-benefit ratio for HRT emerged. The results suggested that in these women, HRT may have protective effects for the heart and bones. This was comforting to know and made the decision to remove my ovaries more bearable.
The past 8 years have been eventful. In 2006, I underwent a bilateral salpingo oophorectomy (removal of the ovaries and fallopian tubes). Biopsies showed dysplasia, or abnormal cell changes in one of my breasts, so I ultimately decided to have a bilateral mastectomy with reconstruction as well. These are not decisions to be taken lightly and I found comfort in the information and support provided by FORCE. There are many organizations that focus on breast cancer or ovarian cancer, but FORCE was founded specifically to address the unique needs of families affected by hereditary breast and ovarian cancer—most of whom carry a BRCA mutation.
As my youngest was heading off to kindergarten, I felt ready to do something new and meaningful with my life. Many people may not understand this, but I feel lucky. Lucky that my aunt was in the right place at the right time to get tested, lucky that I had the benefit of this knowledge to guide me in personalizing my healthcare, lucky that I had the option to be proactive and do what I felt was right for me and my family.
I volunteered to be an outreach coordinator for FORCE, which now has over 50 outreach groups throughout the U.S., and eventually joined the staff of this growing organization. With the recent increase in awareness about BRCA and the role genetics plays in cancer, the demand for information and support has never been greater. I spend every day helping our high-risk community by working to ensure that we have the research, resources, support and services we need. It’s an uphill battle sometimes as hereditary cancer accounts for only 10-15% of breast and ovarian cancer. Melanoma, prostate and pancreatic cancers are also associated with BRCA mutations, but at lower numbers.
I’m pleased to say that great strides have been made in recent years. For instance, the Genetic Information Nondiscrimination Act, or GINA, was passed to protect mutation carriers from discrimination in healthcare and employment. There is still a lot of progress to be made, but substantial headway is being made thanks to organizations, legislators, regulators and healthcare professionals vested in this cause.
(Lisa speaking at a rally in front of the Supreme Court the day they heard the Myriad/gene patent case.)