Denise

BRCA1

To know my story, I have to start with my mom.  It was 1995 and I still remember “The call”.  So many others have received a similar call.  You know the one where the person on the other side says, “It is breast cancer, but don’t worry we have great doctors who told us it is treatable.”  I remember being in a fog around my roommate and my fiancé (now husband) that day.  I remember selfishly thinking, no she needs to be ok, and I need her here to help me.  Not really thinking about her and her needs and dreams for her own future.

The year of my mom’s surgeries and treatment were a blur.  I worked in Omaha so I could sit with her during some of her chemotherapy sessions.  As the year went along we also planned my wedding, and just like the doctors promised, she did get better. And ever so slightly I allowed cancer to drift out of my mind.

About ten years after my mom’s initial diagnosis, I was taking a walk with a friend who mentioned something about her mother and herself looking into taking a genetic test for Breast Cancer.  I had never heard about this type of test before.  They were exploring this option because of her mother’s breast cancer history so they could tell if her cancer was bad luck or due to genetics.  The idea intrigued me, but I didn’t see how it applied to me.  Little did I know….

In 2009 cancer invaded our lives again, but not where we expected.  My mom had always been vigilant about monitoring her breasts, but this time it was in her colon and spine, and it was aggressive.  Life had changed so much; I had now been married several years and had two small children. I had forgotten about my conversation about the genetic testing and all my energy was focused on my mom’s treatment and health.  This time around the doctors were not so promising, and we didn’t even get a full year with my mom.  It took a long time to process the toll this fight took on all of us, and how much we missed her in our lives.

With her gone I knew I had to prioritize my focus on my own health.  Starting in my early 30’s I had been having yearly mammograms because of my mom’s breast cancer history. Closer to my 40’s my OB/GYN and I had also been talking about my ovaries.  I had been having difficulties with ovarian cysts and we had tried several options to control the cysts and my menstrual cycle but nothing seemed to work, so my OB/GYN offered a hysterectomy as a final option.

During those conversations I remembered my mom attributing the hormone replacement therapy she took to relieve her menopause symptoms as the cause for her breast cancer.  It is funny the things you remember your parents telling you when you least expect it.  So as I was having discussions with my OB/GYN, about my own surgical options, and having to possibly take those same hormones, I remembered the conversation I had with my good friend about genetic testing, something that no doctor had brought up to my mother or to myself up to this point. And now it was I that wanted to find out if my mom’s cancer was because of “Bad luck, or Bad genes”.

Since I wasn’t sure where to start, I first met with my mom’s oncologist.  Sitting in an oncologist’s waiting room, as a “patient”, but not having cancer is unnerving. Yet the irony of sitting in the same doctor’s office that my mom had sat in as an actual cancer patient so many years ago was not lost on me.  I realized how fortunate I was to be in this situation, where as the majority of people who were there to see this doctor were very sick, and would have given anything to be in my same situation to possibly know what caused their cancer, and to prevent it.  My mom’s oncologist was wonderful.  He remembered working with my mother and told me she met one of the criteria of the genetic testing, which was she had breast cancer prior to age 50, or “pre-menopausal”.

My mom left home at age 16, so when I met with the genetic counselor. I was only armed with my mother’s own cancer history and a bit about her family history that she had noted on a small piece of paper during her first bout with cancer, about two of her great aunts having stomach cancer.   When the genetic test results came back, I found out I was positive for the BRCA 1 mutation, putting me at elevated risks for both Breast (87%) and Ovarian (up to 54%) cancers.

I remember getting the information and not being that surprised.  It seemed as if I knew it was going to come back positive.   Since that day I have met several other individuals with similar cancer causing mutations.  In their families, it really does seem as if cancer is stalking everyone, so it makes my own family’s history look fairly blasé, so I’m not sure what gave me the impression that my mom’s cancer was so different.  However, when I had my follow up meeting with my mom’s oncologist, he told me he was surprised.  He went on to say if he would have had to guess he would have actually said he thought my mom’s cancer had been based on “bad luck”, but this was why he never bet against genetics.

I scheduled an appointment with my own amazing primary care doctor.  I remember telling him I looked at him like Switzerland.  He was neutral and it was just his job to keep me healthy!  He wasn’t there to cut me open, give me chemo, or anything else… just advice.  He laughed, and said with BRCA, I was somewhere between a rock and a hard place but he thought he had some good recommendations for me, in terms of a solid surgical team, if I wanted to meet with them to discuss options.  I didn’t have cancer and I wanted to keep it that way.  The benefit of being on the proactive side of things is you have time to do your research and to find the right doctors you feel are going to listen to you and are at the top in their field in this area.  Surgery isn’t the only option. You can monitor for cancer or take chemo prevention drug therapy; however, I had seen what this beast did to my mother and I knew I would do whatever it took to avoid that fight.

I went to the University of Nebraska Medical Center where I met with Dr. Edibaldo Silva, a surgical oncologist who specializes in breast cancer. I was blown away not only by his incredible knowledge in this particular area, but also by his caring and compassion nature during our meeting. He was able to put both myself and my husband at ease in discussing all the areas of risk that go along with BRCA. I loved how knowledgeable he was in this area and that he used the most up to date research with high risk individuals, such as myself, to determine the best surgery options for me.  Dr. Silva then recommended I meet with UNMC doctors Kerry Rodabaugh, an OB/GYN surgical oncologist, and Perry Johnson for plastic surgery.

Dr. Rodabaugh went through all my options and explained that with my mutation, the best practice was an oophorectomy (removal of ovaries and tubes), which could be done laparoscopic.  She also made sure I understood how removing my ovaries and tubes would also reduce my risk of breast cancer by removing the estrogen.  Of course there were still risks, but I could live with those… I figured we were all going to go through menopause, I just got to pick the time and date.  Hello little white dress club!! However, when I all of a sudden realized that this was really going to happen much sooner than I had originally planned and I needed to figure out what I was going to do for my future follow up gynecological care, she also told me she was more than happy to follow her high risk patients.  Whew!

Final step was to figure out the plastic surgery options.  I’m, not sure what kind of patients Dr. Johnson normally gets, but I know on that day I was a pretty unwilling one.  I never was interested in plastic surgery, but there I was, talking to a plastic surgeon anyways.  He patiently listened to all my questions about implants and surgical choices making me feel as if all of my questions were important, even the one about scuba diving with implants (yes you can dive with them). On the Friday before my surgery I had one final meeting with Dr. Johnson, because it just didn’t seem right to not meet with someone who was going to have such a major impact on the way I was going to look after this was all done.  All my surgeries were going to be done at once, I called it my “trifecta” surgery, and he was at the end, so I wouldn’t see him at the beginning of the day. During that meeting I told him he better make them look “good”, because regardless I was going to tell everyone that he did them! He took it all in stride and told me not to worry.

As part of my journey I decided to throw myself a party, to celebrate my health.  I called it my “Bon Voyage to my Boobs, Au revoir to my Ovaries party”.  On the eve of my party was when I finally told my 8-year-old son and 6-year-old daughter about having the BRCA gene mutation, and what that meant for our family.  My son, who loves science, very quickly asked if grandma had this same mutation, and I said “yes” and then asked if he had the mutation, and I had to say “Maybe”.  He then asked, if I would be here help him if he found out he had the mutation, and I said “ABSOLUTELY”!  One of the husbands of a dear friend also stopped me as they were leaving the party and looked at me and simply said, “Thank you. Thank you for being strong enough to not leave your husband a widower and your children orphans”.  That simple statement has always stayed with me during this journey.  I have always thought the true warriors are those that have to fight cancer, because they didn’t have a choice.  Cancer invaded their lives and they had to battle this horrible disease.  However, I will say I am proud of my strength to do what is right for me and my family.

My amazing husband, children, family, friends, work… everything fell into place for me during this process. It was as if it was my mom’s last motherly duty to make sure all the pieces fell into place for me.  The individuals I have encountered have been some of the most incredible and passionate people I have ever met.  And the personal journey I have taken on this walk has made me grow in ways I never thought possible.

I know how incredibly blessed I am that I found out I had the gene mutation before I had cancer. And until science and medication can fix this mutated DNA, I will do everything I can to help others realize, just like my friend did for me so long ago, that there could be a family risk or genetic risk that is causing the cancer in someone’s family, so no one else has to say good bye to someone they love simply because of a “Bad genes”.