My Journey With BRCA 2 Positive Status
By Barbara O’Connell
Let me preface this with a little bit of history. My family was no stranger to conversations about Breast Cancer. My Mother’s two sisters had breast cancer – both diagnosed in their early 40s one had a short-lived battle and the other is still here and is almost 80 years old.
In 2003 my mother was diagnosed with breast cancer and had chemotherapy, radiation and a lumpectomy. In 2006 my eldest sister, Kate, was diagnosed with Stage 3 breast cancer a week after she turned 41 – just a week after that news our mother learned that her cancer returned. Around that time my Aunt who had been a survivor of breast cancer for over 20 years in remission, decided to get this new genetic test to determine if our family had a known genetic mutation. Her test came back positive for a mutation of the BRCA 2 - which meant each of her children had a 50/50 chance of carrying the mutation as well. The weight of this knowledge and fear of passing this mutation on to the four of us was heavy on my mother – she decided to be tested. Mom wanted each of us to have the ability to decide if we wanted to be tested and feel empowered to make health care choices. Considering she was already battling cancer she was less than shocked that her test for the mutation came back positive, she was beside herself with fear at the thought of what this meant for us girls. In 2007, Kate and I got tested about a week apart and got our results about the same time. We were both positive. I think I would have been more shocked to hear I was negative. Kate opted to have a mastectomy with TRAM flap reconstruction about a month after diagnosis on her affected side. I was left with some serious soul searching and decisions to be made. Our younger sister is also positive for BRCA 2. Our other sister did not have the test – this is a very personal decision and there is no correct choice. For me, I need information to make decisions.
Now the real journey began – I was 35 years old – still single and didn’t want to give up the option to have children and could not bring myself to face the tough decisions I was being told I needed to make. The facts as given to me in 2007:
Because of your mutation you have an 84% risk over general population to have breast cancer in your lifetime; you are also at a 27% increased risk to have ovarian cancer in your lifetime. It is important to note that children have a 50/50 chance not just daughters – sons are equally at risk of having the mutation yet their lifetime risk of breast cancer becomes 8x more than general population and 7x times more for prostate cancer.
At the time of my genetic counseling I was told women in general have an 8% chance of breast cancer in their life – this put me at 92% likelihood that I would have to face hearing those words in my life – that was just TERRIFYING!!! Also, women in general had a 2% chance of having ovarian cancer in their lifetime so my status put me at a 29% chance of hearing those dreaded words a more manageable number but still too high for my comfort.
My doctors wanted me to consider the very hard choices of radical mastectomy and hysterectomy to take my risk from near certainty to a much more manageable risk. I could not imagine having these surgeries and still finding a man who would love me or consider having children with me if I were all scarred up and missing vital parts. I opted for frequent screening and testing until I could get comfortable making the tough choices. So, for 4 years I had ultrasounds, mammograms and breast MRIs every six months. I was being seen every 6 months by an OB/Oncologist for routine screenings and to be tested for the CA125 (which is a protein marker that can be used for early screening for high risk patients but is generally a marker for woman currently undergoing treatment).
As you can imagine this was extremely stressful - having to hold my breath after every test fearing on some level that each test was going to be the one that would result in a diagnosis.
In February 2008, my mother lost her battle with cancer and a few short months later, Kate learned her cancer had come back in her bones. It was the hardest thing to watch two people who were so very dear to me suffer through endless doctor visits with blood tests, endless hours sitting in a chemo chair, watching the after effects of that treatment, and the excruciating pain that Kate was in when the cancer made it to her bones, everything she did involved pain.
I always knew surgery was in my future and I spent many years researching the different options and trying to figure out which surgical option would be best for me. If I was going to have the surgery, I wanted to have the DIEP flap surgery as it was the best option to give me a natural look. It would mean using my belly fat to recreate natural looking/feeling breasts. Similar to the TRAM flap that Kate had but there is minimal muscle involvement and therefore the healing is slightly easier.
After 4 years of living with this hanging over my head and many discussions about options as well as TONS of research, my doctor and I had agreed that the surgery that would be best for me was a Radical Prophylactic Bilateral Mastectomy with DIEP reconstruction in the same surgery. BUT I still was not ready to pull the trigger on the surgery. We agreed that if by my 39th birthday I had not yet found the man I wanted to be with nor had children that I would move forward with the surgery.
My surgeon had changed hospitals and I had not yet met with a plastic surgeon to be sure how this would all lay out. In time for my next screening, my doctor had settled into her new practice including a team of doctors, among them a brilliant plastic surgeon. I went in for my biannual check in with my doctor, she asked me to sit with the plastic surgeon and just discuss options and see if he agreed with the plan that we thought would be my best course. This was in Sept 2010, 2 months before I would turn 39 and time for me to come to terms with having surgery. He made something that I had been so terrified to take on sound like it was the only logical course of action and he made me feel comfortable with that decision. He assured me that it could be done and would give me a great result. He assured me the DIEP flap would work for me, which was the only surgery I wanted to have, so that was great news. I left with the knowledge I would be having my surgery early in December 2010 just waiting on a scheduling nurse to set the date. My breast surgeon was shocked – she and I had been discussing options for 4 years and I was dragging my feet, one conversation with him and we had a tentative date, he put me at ease with his description of what the surgery would entail and what I could expect afterwards.
One very important step I was required to take upon making the decision to proceed with the surgery was to speak with and be cleared by a therapist to confirm and certify that I was fully aware of and accepting of the path I was about to take. It was very important to make sure that I was mentally prepared for the journey ahead of me. I had the most wonderful psychotherapist who helped me not only prepare for this surgery but to help me through the losses of my mother, sister and later my father. It is so important to find a therapist who makes you feel comfortable discussing your options and helping you deal with the choices being made.
My family and friends were split in their support of my decision to move forward with surgery. I had many who were wholly in my court and cheering on my decision to be proactive and several who thought I was crazy to essentially cut off “healthy” tissue on a maybe. To them I said - this essentially “healthy” tissue is a ticking time bomb – it is a near certainty that I will have to hear that I have breast cancer if I keep them. If I get rid of them and have the DIEP surgery, I will get a boob job and tummy tuck in one surgery. In our family we try to face challenges realistically yet with humor.
The week after I agreed to have the surgery, I had my MRI screening. One week after that I received a call telling me that they “saw something” so I had to go back in for an MRI guided needle biopsy. Thank God it turned out to be a fibrocystic change. This scare turned anyone who was on the fence or against my surgical plan to suddenly be my cheerleader for having the courage to face this head on.
The weekend prior to my surgery we decided to have a huge Thanksgiving celebration since my sister and her family were coming up from Florida to take care of me my first week post-surgery and we would have the rare opportunity of having the entire family together. Amazing how very important that celebration came to be.
I had my mastectomy with DIEP Flap reconstruction on December 6, 2010, it was a 14-hour surgery. It went by in a blink for me but not for my family waiting to hear how it went. Prior to this I had never had a surgery – go big or go home! My sister, Kate, asked me shortly before my surgery if I was sure about having the surgery b/c it is a hard recovery – my reply was “I don’t think I am strong enough to face a cancer battle with as much grace or strength as you and Mom have done, so yes, I am sure.”
I was out of work for 6 weeks with lots of friends and family sharing time to take care of me in the first few weeks when I could not be home alone. I spent Christmas week with Kate, her husband and their 7-year-old daughter at her home celebrating what would be Kate’s last Christmas – who knew? That week was such a gift to me and full of memories that still help me today. To this day I could not be happier with my decision to have this surgery and the final results. Kate passed away on January 31, 2011 at just 45 years old. After Kate passed, our younger sister decided to proceed with both the hysterectomy and her prophylactic mastectomy with reconstruction.
Nine months after my reconstruction (Sept 2011) I met the love of my life, Todd. With regards to my fears of my scars, my history or my decisions he has never made me feel anything but loved. His response when he heard about them was “you made very difficult decisions that would allow you to live a long healthy life, so those scars make you more beautiful.” I knew he was a keeper. By the time we met I was about to turn 40 and had already been coming to terms with not having children because I didn’t want to be in my 60s when a child graduated. After we were together for about a year, we had conversations about children and Todd told me not to make a decision that would risk my life for a child that we were not yet ready to consider having. Todd assured me that if at some point we were to decide that a child is something we were missing we could always adopt. So, in December 2012 I had a complete hysterectomy including my ovaries to remove the hormones pumping in my body and removed the constant worry of cancer taking me away from those I love. Immediate hot flashes when I woke from surgery and for several years after were not what I had planned but I am still happy I made the decision to remove the constant worry from hanging over my head. I try to live each day as if it is a gift, because to me it is exactly that. I was empowered by the information of our BRCA status allowing me to make choices to make my life about living and not constantly worrying about the risk hanging over my head. I am soooooo very grateful to my mother for the courage to have the test to give us each the choice and power to take our health by the reigns and make decisions that were best for us.
My best advice to anyone facing these decisions whether proactively or as a reaction to the dreaded diagnosis, is to be proactive and stand your ground - you need to be your own best advocate. For families with multiple family members who have been affected by breast or ovarian cancer – this genetic test is available - not every genetic mutation is known. Let me say that again NOT every genetic mutation is known. Trust your gut and push until you get the tests you have wanted to have and/or the doctors you want to be on your team. If you are having a surgery, make sure you have a strong family member to act on your behalf and be your best advocate while you are recovering. Thank you for taking the time to read about my journey. May you find all the strength you need to face the path to which you are heading.