My Sister, The Previvor | Breast Cancer Susceptibility Genes

“Is this the right choice?” A knot formed in my stomach as I read the 5:00AM text from my sister who was on her way to the hospital to have her ovaries, fallopian tubes and uterus removed. I stared at my phone trying to come up with the right response all while trying to imagine the whirlwind of emotions she must be feeling at this moment. The fear, the “what ifs”, the second guessing, the overwhelming anger she must have towards that tiny glitch in her DNA that has forced her to make life or death decisions she never thought she would have to make.

The road that led us to this moment began a few years back to when my Dad was diagnosed with stage 3 breast cancer. He underwent a double mastectomy, lymph node removal and grueling months of chemotherapy and radiation treatments until he was finally cancer free (for nearly 5 years now.) Since less than 1% of breast cancer occurs in men, the genetics counselor assigned to his case did a little digging and noticed a pattern in my dad’s family health history. This pattern led her to suggest undergoing a test to detect a pair of genes that have been found to increase the likelihood of breast cancer. My Dad tested positive for a gene called Breast Cancer Susceptibility Gene 2 (BRCA 2).

Everyone has Breast Cancer Susceptibility Genes (BRCA1 and BRCA2). However, when either of these genes are mutated, it’s often unable to fix damaged DNA cells which increases that persons risk of developing certain types of cancer – particularly breast cancer and ovarian cancer. Testing positive doesn’t mean that person is 100% guaranteed to get cancer. But, they have a much higher chance than the rest of the population of developing not only breast and/or ovarian cancer, but a number of other cancers including pancreatic cancer, melanoma, stomach cancer, prostate cancer, uterine cancer, colorectal cancer and second primary cancers. My Dad having this gene gave my brother, sister and I each a 50% chance of also having it (1). The only way to know for sure was to be tested for it.

For my brother and I, the decision to get tested for the gene was easy. Either way, we wanted to know but our sister wasn’t so sure. So, we made a united decision that either we all get tested or none of us get tested and reluctantly, she finally agreed. During the seemingly endless weeks of waiting for our results, I convinced myself that I would be the only one of us with the genetic mutation as I share a lot of my Dad’s sides physical traits and have had a variety of health issues. When I was finally told my results were negative, tears of relief poured down my face. In disbelief I asked the genetics counselor to repeat herself a handful of times before it finally set in! Unfortunately, this great relief quickly transformed into gut-wrenching guilt when my sister’s world completely shattered as she heard the three simple words… you tested positive.

Learning she had this gene brought my sisters life to a crossroads. She could choose to ignore this newfound information and live her life as she normally would. But being in her early 30’s and the mother of two young boys, she chose the more proactive path. For nearly a year, she allowed herself to just process what having this gene meant to her and did research on all of her options. As recommended by her doctor, she had mammograms every few months along with blood tests and ultrasounds until she made the decision to have a prophylactic double mastectomy in June 2012. Recovery was brutal but what got her through was knowing that by choosing to have the surgery, she potentially lowered her risk of getting breast cancer by about 90%(2). Though having the surgery gave her some peace of mind, the increased risk of ovarian cancer continued to loom over her. With encouragement from our family and her husband, she made the decision to have her ovaries, fallopian tubes and uterus also removed a few months ago. She seemed to struggle a bit more making the decision to have this surgery, as it would put her into instant menopause at 36 years old, but by having it she lowered her chance of getting ovarian cancer by 96% (3).

You always know if something in your life is big when you base time around it – there was life as you knew it before and life after. Learning she has the BRCA 2 gene has been that moment for my sister. I wish I could say that since having the preventative surgeries life has been smoothly set back to “normal” for her but in all honesty, it hasn’t quite been so simple. She has been physically, emotionally and hormonally altered, leaving her having to re-learn who she is now. She has bad days and good – some days it just about kills her thinking about the 50% chance each of her boys could have this gene. But other days she is able to take a step back, slow down and really appreciate everything she has. She is taking life one day at a time.

When I asked my sister if I could write about her journey for Breast Cancer Awareness month, she said she was honored to share her story because she has found a lot of comfort hearing from others who are struggling with the same journey. She feels that online support groups such as such as FORCE: Facing Our Risk of Cancer Empowered, Inc., BRCA Sisterhood and HysterSisters give those with the BRCA gene a voice making them feel less alone. She feels empowered to be part of an online community of “previvors” (a term used frequently in the BRCA world to describe someone who is a survivor of a predisposition to cancer)(4). My sister is a “previvor“.

I don’t pretend to understand what she has gone through. Like cancer, loss of a loved one, or infertility, no one understands unless they have been there. As her sister, all I can do is support her. I tell her it is ok to be sad and let her cry as much as she wants. I talk about unimportant, meaningless things when I can see she wants to think about anything other than what she has been through. And though she often feels like her body has betrayed her and that she has had so much removed, I remind her that there is still so much of her left! I am so proud of her strength and bravery. I thank her for having the surgeries because I need her in my life. I thank her for our family – we are very close and we wouldn’t be the same without her. I thank her for my daughter because she has been such a light in her life. But most of all, I thank her for her boys. As those little boys grow up and into young men, she will get to be there to embarrass them in front of their prom dates by showing silly baby pictures. She will be there to smile proudly as they scan the crowd for her smiling face as they are handed their diplomas. She will get to stand on the porch waving as she watches them drive away to start their lives as adults. She will get to cry tears of joy as they say “I do” and will get to kiss the chubby cheeks of her newborn grandchildren. I hope during each of these moments that lingering question of “did I make the right choice?” can be answered without a doubt. Absolutely.

Online BRCA Support Groups:

• FORCE: http://www.facingourrisk.org/
• BRCA Sisterhood: http://www.mydestiny-us.com/brca-sisterhood-group.html
• HysterSisters: http://www.hystersisters.com/

References

1. “BRCA 101.” Kartemquin Education Films, http://inthefamily.kartemquin.com/content/brca-101
2. “Prophylactic Mastectomy.” FORCE: Facing Our Risk of Cancer Empowered, Inc., http://www.facingourrisk.org/understanding-brca-and-hboc/information/risk-management/mastectomy/basics/prophylactic-mastectomy.php#text.
3. “Oophorectomy and Ovarian Cancer Risk Reduction.” FORCE: Facing Our Risk of Cancer Empowered, Inc., http://www.facingourrisk.org/understanding-brca-and-hboc/information/risk-management/oophorectomy/basics/oophorectomy-and-ovarian-cancer-risk-reduction.php#text
4. “Cancer Previvors.” FORCE: Facing Our Risk of Cancer Empowered, Inc., http://www.facingourrisk.org/understanding-brca-and-hboc/information/previvors-survivors/cancer-previvors/basics/overview.php.