By: Georgia Hurst
A previvor analyzes the similarities and overlaps between living with Lynch syndrome and a BRCA mutation.
A few years ago, Karen Malkin-Lazarovitz, founder of the BRCA Sisterhood on Facebook, reached out to me and asked me if I would be an administrator for the group. The BRCA Sisterhood is the largest BRCA Facebook support group for women, with 10,000 members – it’s an incredible resource for those recently diagnosed with BRCA. It is considering options for how to proceed. Karen’s group includes women from all over the world who share their stories, decisions and intimate details of their lives. I have had my share of issues following the removal of my ovaries, and this group has also been an enormous source of emotional support for me. In addition, I have gained tremendous insight into the reality of what life is like when you carry a BRCA gene mutation.
When Karen reached out to me, it was because many women in the group who were undergoing genetic testing for BRCA discovered they had one of the five known Lynch syndrome mutations. A few women in the group carried both a BRCA mutation and a Lynch syndrome mutation. Karen took note of my advocacy work and requested I join her administration team. While cancer risks and implications differ between Lynch syndrome and BRCA, there happen to be many parallels between the two conditions. Many women who carry a mutation in BRCA or Lynch syndrome may undergo similar prophylactic measures, removing the uterus, ovaries and fallopian tubes.
However, many BRCA-positive women also undergo prophylactic double mastectomies to reduce their risk of breast cancer drastically. Some opt for breast reconstruction with the hope of trying to regain some level of physical normalcy. While these BRCA positive women may be reducing their breast cancer risk by having their breasts removed, many also suffer long-term consequences due to their breast surgery or reconstruction. Some women report chronic pain in their upper body, a loss of upper body strength and a lack of sexual sensation in their chest. Some women opt to keep their nipples, others have 3D nipples tattooed, while others decide to forgo nipples altogether. After my ovaries were removed, I felt highly defeminized. So I cannot begin to fathom how women with BRCA gene mutations who undergo mastectomy feel, specifically those who cannot afford to undergo breast reconstruction, as that would be something significant to me.
Sadly, not everyone has access to Angelina Jolie’s breast surgeon and top-notch medical care or can afford to take extended periods off of work. Not everyone understands that women with BRCA gene mutations are not simply having “boob jobs.” Women are doing this to save their lives. Mastectomy and breast reconstruction can be a long, arduous, painful process. Plastic surgeons’ skills and aesthetics vary. Just like any other profession, some are great, and others are not so great. A patient can be thrilled with her final results, or a patient can be unsatisfied or even disfigured, which only brings on a constellation of other financial, physical and emotional problems.
The one thing that concerns me deeply is that many women and men with BRCA mutations may know carriers. The women are going to great lengths to reduce their breast and ovarian cancer risks but are not adequately screened for other cancers for which they are still at risk. Men can also carry and pass on a BRCA gene mutation to daughters AND sons. Other cancers associated with BRCA mutations include a man’s pancreas, stomach, colon, melanoma and prostate. In addition, one in 43 Ashkenazi Jews is a BRCA mutation carrier. Unfortunately, many Jewish people have significant medical gaps in their family medical history due to losing their families in the Holocaust and may not have a complete family history that may have tipped them off to be at increased risk.
For example, it is recommended that screening for colorectal cancer for women and men with a BRCA1 mutation be initiated at 40 years. Still, I have found most BRCA carriers don’t know about this risk for colon cancer. According to Ellen Matloff, M.S., CGC and President of My Gene Counsel, “Some studies have suggested that women who carry BRCA mutations are at increased risk for colon cancer, especially if they have a strong family history of the disease, while others show no increased risk. Although national guidelines do not recommend additional colon screening for BRCA carriers, it is recommended that carriers explore their family history for colorectal cancer and, if there is a strong family history and/or cases diagnosed before age 55, speak to their physicians to see if they qualify for additional and/or earlier surveillance.”
More than this, most women with genetic testing are not even meeting with a certified genetic counselor – their doctors are not referring them to one. Even if you have undergone prophylactic surgeries, please be sure to seek a certified genetic counselor to understand your particular genetic mutation better and ensure that you are experiencing the correct health screenings. Appropriate health screenings, even after surgeries, are still essential to maintain your health. This way, if cancer occurs, it may be detected as early as possible when it’s most treatable.
Barbara Jacoby is an award winning blogger that has contributed her writings to multiple online publications that have touched readers worldwide.