Personal Stories

Heather, Age 35
BRCA 2+ , Previvor
During the summer of 2008, my parents informed me that my father’s first cousin was coming to town to share some health news.  She had recently discovered, after the death of her mother and two maternal aunts, she carried the BRCA2 gene mutation.  I was 26 at the time she informed us that in a family of 6 children (my paternal grandmother being one of them) all 3 women had passed away from cancer, ovarian and/or breast, in their late 40s/early 50s.  One of the brothers had died of an unknown cause at age 65.

Thankfully, my father was proactive and immediately had himself tested in the fall of 2008.  After learning he too had a BRCA2 mutation, I tested positive in the spring of 2009.  At the recommendation of my genetic counselor, I started my breast and ovarian screenings immediately. 

In 2016, I turned 34.  I had been doing every routine screening recommended but frequent abnormalities and dense breast tissue were unsettling for me.   I made the decision to undergo a prophylactic bilateral mastectomy with reconstruction.  My surgery was done locally and although long, went well.  My pain was relatively minimal and my drains were all removed within 3 weeks of surgery.  I had opted for expanders which were exchanged for round, high-profile, under-the-muscle silicone implants in April 2017. 

Around the time of my expander exchange I learned about the benefits of a prophylactic salpingectomy (fallopian tube removaI).  Despite having several cases of ovarian cancer in my family, I felt too young to go through a full oophorectomy (ovary removal) and this seemed like a suitable bridge until I was ready.  Nine days after my expander-exchange surgery, I had the laparoscopic bilateral salpingectomy done.  This surgery went well also.  I have made a complete recovery from all surgeries and am enjoying doing everything I did pre-surgery, including being very active with my two young children.    

Taking into consideration the most recent standards for BRCA2 carriers and my family history, I have decided to wait several more years for the oophorectomy.  Until that time, I continue to have transvaginal ultrasounds, pelvic exams, and CA-125 blood tests twice a year.  I also see a dermatologist once a year for skin-mapping because BRCA2 mutations are also associated with melanoma.    

I consider the ability to be genetically tested a gift.   I am over-the-moon happy with my decision for both the prophylactic mastectomy and salpingectomy as I have significantly reduced my risk of developing breast and ovarian cancer.  I feel confident in my decisions, I have no regrets, and I feel empowered.

Judy, Age 59
BRCA 2+, Breast cancer survivor

Who would have thought that in April 2013, at age 59, those four words “You have breast cancer” would change my life?  Cancer was no stranger to my family but aside from a paternal cousin with breast cancer at age 30, it was only affecting the men in my family so I didn’t think anything of it.  I had no idea that my father and two paternal uncles who had prostate, pancreatic, and stomach cancers had any significance for me and none of my healthcare providers had thought it did either.

After my breast cancer diagnosis I underwent standard treatment; a lumpectomy followed by a year of Tamoxifen.   Fortunately, at this time, my sister did wonder if there was some significance and pursued genetic testing.  She tested positive for the BRCA 2 mutation and subsequently, I did too.   At a follow-up appointment with my breast surgeon I learned my chances of recurrence or a second primary were as high as 68%.  Knowing my mutation put me at a much higher risk of developing ovarian cancer as well as another breast cancer, I decided to be proactive.  I opted for a total hysterectomy with bilateral salpingo-oopherectomy (uterus, fallopian tubes and ovaries removed) and a bilateral mastectomy.  I was unable to do nipple-sparing surgery due to the location of my lumpectomy but did have silicone implants under the muscle done. 

Fortunately, both surgeries and recoveries were much easier than I anticipated.  I did not have to do any hormone replacement therapy because I had gone through menopause several years prior to my surgery. I continue to see a dermatologist annually for skin-mapping, I do regular self-breast exams and visit my gynecologist every other year for follow-up.  

Since the discovery of my mutation, it has been my mission to inform as many people in my family about my BRCA mutation.  As of today there are 8 females in my family who are BRCA 2 +.  The knowledge of this mutation saved one of their lives.  A routine MRI done solely because she is BRCA+ showed two aggressive sites of breast cancer that were not found on her routine mammogram.  Had she not been tested for BRCA, these cancers would have been diagnosed at a much later stage.    

Through all of this I’ve learned most importantly that knowledge is power. Consider it a gift knowing about your genetic mutation. It gives you the ability to take control of your health and your destiny.

Maryann, Age 58
BRCA 1+,  Breast cancer survivor

I feel very fortunate to have had a very progressive gynecologist when I was younger.  Knowing that my paternal grandmother died from ovarian cancer at a young age, I began bi-annual CA-125 tests and transvaginal ultrasounds at age 28.  I also had a mother with breast and colon cancer and a maternal grandmother with breast cancer so I also began mammograms at this time and colonoscopies ten years later.  In 2009 a physician’s assistant in my gynecologists’ practice was very active with genetic cancer and testing.  After learning about the breast cancer on my mother’s side and the ovarian, pancreatic and breast cancers on my father’s side, I was referred for genetic testing.    

At the age of 50, I learned I had a mutation in the BRCA1 gene.  I already had a total hysterectomy with bilateral salpingo-oophorectomy (removal of the uterus, fallopian tubes and ovaries) for other medical reasons, so I began routine breast screenings.  As recommended, I was having mammograms once a year with annual MRIs in between them.   

In 2012, found on a routine mammogram, I was diagnosed with stage I triple negative breast cancer in my right breast.  I underwent a bilateral mastectomy with reconstruction and four rounds of a Taxotere and Cytoxen chemotherapy regimen.  Although rare, I developed a hematoma shortly after my initial surgery and also after my implant-exchange surgery which needed repair.  Overall though, my surgeries and recoveries went fairly well.  My chemotherapy went well also.   Most importantly, my white blood cell count always remained normal.  I did lose my hair which was difficult at first, but it came back after treatment.  I didn’t experience a lot of nausea that couldn’t be managed, but my loss of appetite was very frustrating.  Nothing tasted good; sweet tasted salty and salty tasted sweet.  This also ended shortly after therapy was completed.

Since learning of my mutation, my 84 year old father has been tested.  Because of my mother’s personal and family history, I wanted to confirm the BRCA 1 mutation was in fact coming from my father; we were correct.  Both of my sons, 31 and 26 have also been tested, with the latter being positive.  As for me, I continue to have skin-mapping done by my dermatologist twice a year and because of my family history of pancreatic cancer, which is also associated with BRCA mutations, I have annual pancreatic ultrasounds done.

I feel very fortunate to have found out I am BRCA1+.  Not only is it helping me take control of my future, but it is now helping my father and my son who are both affected by it.  Knowledge of my mutation and my breast cancer has led me on a very rewarding journey.  I have met so many wonderful people and have developed life-long friendships with individuals who face the same decisions and struggles that I have/had faced.  

Andrea, Age 35
BRCA2+ , Previvor

My maternal grandmother’s passing in 2000 was life-altering.  I was well aware of the breast she lost and the wig she gained, but she never showed any sign of weakness, so me being 17 and self-absorbed, didn’t give it much thought.  She continued to be an extraordinary woman in every aspect of her life.  When I learned she was in Hospice and only had a few months to live, I was in shock.  I didn’t realize at the time that battling stage IV inflammatory breast cancer was no easy feat and the fact that she did this for almost 7 years was even more profound.  She was too young, but she was exhausted from fighting a losing battle.  Two weeks after hearing ‘I’m sorry, but there is nothing more we can do’ she finally surrendered.

In 2012, after several consecutive ‘inconclusive’ mammograms my mother was referred for genetic testing by her primary provider and to all of our surprise, discovered she was BRCA 2+.  I became familiar with BRCA during my graduate work in Cancer Prevention several years prior. I knew it increased the risk of developing cancers such as breast, ovarian, pancreatic, melanoma and prostate, but I had never imagined it would affect my life and the lives of my entire family.   I had no reservations about testing, partially because I had met my very high deductible so I knew it would be free.   But also because I thought the mutation would skip me somehow (…perhaps if I put blood on my doorway the dark black ‘mutation’ would pass over).  I was wrong.  I too, was positive for the BRCA 2 mutation.  From that point, I had a decision to make.  I could take it as a curse or I could take it as a blessing. 

Faced with so many decisions, I felt completely overwhelmed.  I felt alone, scared and angry.  I kept thinking of the time I sat next to my grandmother as she took her last breath, her body filled with tumors.  Was she BRCA+ too?  Would she still be alive if she had known?  Most likely.   It was at that moment I was going to take this knowledge as a blessing and take control of my fate.   I was 30 at the time and not sure if I was done having children yet so opted out of any risk-reducing surgeries and explored other risk-management options. 

Now at age 35, I continue to get breast scans, skin-mapping, transvaginal ultrasounds and CA-125 blood test every six months.  Fortunately, these have all been clear to this point but waiting for results is very stressful.  My plan is to have a prophylactic salpingo-oophorectomy done by the age of 45, as recommended by NCCN (National Comprehensive Cancer Network) and a prophylactic bilateral mastectomy within the next 5 years.   I plan to be around as long as I can for my two beautiful daughters. 

The silver lining of this whole journey has been the people I have met along the way.  It’s reassured me that I’m not alone and these decisions along with frequent doctor’s appointments, tests, scans and biopsies aren’t/weren’t easy for them either.  This has motivated me start a foundation that is dedicated to genetic cancer mutations.  It is my mission personally and through the Familial Cancer Foundation of WNY to make the journey for other individuals less confusing and less challenging.   I want to help other individuals and their families turn what may be considered a curse into a blessing.