BLOG: I Am No Longer Afraid

By: Nikki, a BRCA positive previvor, TX

What I am here to offer you today is five generations that have been affected with cancer.  We do not know exactly where the BRCA2 gene originated but I will share with you what I do know.

My maternal grandfather, Mike Koval, lived a prolific life.  He farmed the North Dakota plains to provide a nice life for his wife and 12 children.  In 1967 he was diagnosed with breast-cancer, four years later it took his life.  This was a shock to his family and friends  (if you didn’t know, men can get breast cancet too. About 2000 men/year in the US) but they had no idea what was in store.  Two of his sons and five of his daughters would find themselves in a similar fate.  One of those seven children was my grandmother, Francis.  Now I assume that most of us do not have a lot of memories at the age of four and five.  Studies actually indicate that people have no memories prior to the age of three.  My first memories involve my grandmother’s struggle with cancer.  I have memories as a child, driving with my mother to my grandmother’s chemotherapy treatment. I remember seeing her loose her hair and I was afraid.  My mother assured me it was not contagious.  How was she to know that we also had the same gene that was proliferating itself throughout our family.  I was five years old when I attended my grandmother’s funeral.  I remember the devastation on the faces of the seven children and husband that she left behind.  I remember wondering, will my mom also die?  I was afraid.

Four years later, at the young, invincible age of 29 - my grandmother’s daughter, my mother’s sister, Terri would hear a diagnoses her mother heard not so long ago – she had breast cancer.  Five years later we buried a beautiful mother of two sons.  The pain on the children’s faces is something nobody should have to witness.  How could I describe it to you?

Now I look back and wonder …if the Dr. and my aunt had decided against a breast conserving surgery and decided to move forward with a more aggressive approach, would Terri’s life and death have been different?  But how were they to know that their decision would ultimately cost Terri her life?

Two years later, another diagnosis rang throughout the family – another daughter, sister and mother heard the words that were now feared by everyone.  My aunt Rosie had cancer.  After the initial diagnoses, she had her left breast removed and kept her right breast.  5 years, 6 months later, the cancer reoccurred in her other breast. By the time it was detected, it had already spread to her lymph nodes.  She fought for 4 more years before the cancer took her life at the age of 42.  She left behind 2 daughters and a son. 

Fear and sadness shook the family.  Who was going to be next?

I was afraid that I would loose my mother like my cousins had lost theirs.

I think it is important to note, that from the initial diagnoses to the time of their deaths, the quality of their lives was less than optimal – to say the least.  In both the cases I referenced above, the cancer matastized to their brains and they died a very long and painful death….while their families hopelessly watched.

As I look back, I now realize that a subconscious fear would awaken during certain milestones and moments of my life.  I recall going through puberty and developing breasts.  While my friends joyously celebrated purchasing their first bras, I wondered if and when my breasts would betray me as they had so many others within my family.  By this point in my life, I realized that my mother had been mistaken, breast cancer was contagious, at least within our family, and I was afraid.

When I was 19 years old I went to a routine annual physical.  The Dr. conducting my breast exam found something a bit suspicious, I remember feeling the blood drain from my face, was it already time for the inevitable to occur?   I was afraid.

At the time, I did not realize that my mother was experiencing the same fear.  Parents typically do not share their own fears with their children. 

When my mother was 42 years old, a suspicious lump was found.  She was tired. She was tired of being afraid.  Right then and there she decided that regardless of the results of the suspicious lump, she was going to proceed with a mastectomy.  Two Dr.'s refused the surgery; it was too radical and to extreme they said. She was not detured...only more resilient.  She found a surgeon that had recently lost his sister to breast cancer and also had a strong family background of breast cancer in his family.  Finally, my mother found somebody that understood and listened. Two months later she completed a risk reducing mastectomy with reconstructive surgery.  The lump turned out to be benign…it was a wake up call that my mother gave thanks to.  I also remember feeling a great sense of relief; I no longer had to feel afraid for my mother. This marked a turning point in my family history. 

10 years later my mother’s Dr. referred her to a genetic counselor to explore the possibility of genetic testing.  After weeks of dialogue and fact finding, the genetic counselor advised my mother not to get the testing.  There were a few reasons given for this recommendation.  However, I call it paralysis by the analysis.  One of the reasons that were given is that there is a possibility that the gene causing cancer in our family is different from the gene being identified in the test (the test identifies 85% of the genes associated with hereditary cancer).  Thus, giving a false ‘negative’.  My response to that was…you have not lost anything you just remain where you are today…in the world of unknown.  You have everything to gain and not much to lose.

We were fortunate that my mother had complications unrelated to cancer that prompted her to move forward with a complete oophorectomy regardless of the lack of the genetic testing.

Over the next 10 years we buried a few more of my mother’s aunts to cancer.  I proceeded to get married and have a beautiful daughter and the most handsome of sons.  My fears shifted….I was now afraid of prematurely leaving my children.

When I was 30 years old a friend of mine in the health care industry told me a bit more about genetic testing and how it was advancing.  I was interested in pursuing the testing but where do I start?  What does the testing entail?

Stephen Covey states that it is human nature to focus on the urgent items in our lives – Urgent means it requires immediate attention NOW!   Urgent matters are usually visible.  They press on us; they insist on action.  We react to urgent matters. Important matters, on the other hand, that are not urgent require more initiative.  Genetic testing fell into this category.  We must act to seize opportunity, to make things happen.  Genetic testing was important; however the urgent things in life were taking a priority (career, kids, husband, etc.).  For the next two years, my quest for genetic testing would surface during my annual OBGYN visit.  I would inquire; my OBGYN would get a confused look on her face and give me a phone number to “try”.  The phone number would ultimately lead me to “nowhere” and once again the genetic testing would get placed on the back burner.  On my 33rd birthday I decided that it was time to make this testing an urgent/important priority in my life.  I had a very real understanding that I would turn 34 on my next birthday, the same age that my aunt died of breast cancer.  I no longer could delay my quest for knowledge.  I contacted my friend that was in the healthcare industry to see if she would do some research as to where I could get the testing done in my area.  After doing some research she provided me with a name and number of a nurse practitioner that could do the blood test.  Blood test? Is that all there is to it?  If it is just a simple blood test, why was it so difficult for me to be led down the right road?

October 18th of 2006, my blood was drawn.  Tuesday November 14th I received my results, I was BRCA2 Positive and I was NO LONGER AFRAID.  I was no longer afraid because the unknown was now known.  I was empowered with choices!  I no longer felt like prey waiting for the inevitable.

I remember sharing the information with my mother.  It was a difficult conversation to have.  We both cried.  My mother cried tears a mother cries when something is wrong with their children and because she knew the gene came from her. 

We cried for the people that had passed before us that were not privy to this information.

I proceeded to weigh my options and decided to take a 2 stage approach.  The first phase was to move forward with a risk reducing mastectomy with reconstruction surgery.  The next step was to address my extreme ovarian cancer risk, which I now knew I had.

February 22nd of 2007, I underwent my risk reducing mastectomy with reconstructive surgery.  My mother was there holding my hand and I felt so thankful that I still had her in my life – for yet another milestone.  Four days after my surgery, my husband was driving me home.  We passed by the Nurse Practitioners office that drew my blood and I asked him to stop.  I went into her office, gave her a hug and thanked her for saving my life.  I told her that she was my guardian angel.

A lot of people have asked me if my decision to have the mastectomy was difficult.  The answer is no.  The decision was not difficult.  I knew the women in my family that lost their lives to breast cancer – I know that if they had been given the choice to see their children graduate high school, experience their first loves, get married, see their grandchildren, they would have done whatever necessary to make that happen.  I feel sadness that they did not have the knowledge that I so gratefully have.

Now some of you may be interested in my sibling’s response to the information that we have the BRCA2 gene in our family.  I have two brothers.  My older brother is your typical single male, resistant to Dr's.  At this time, he has no intention of pursuing the test. 

My younger brother, however, has a different perspective.  He has children of his own.  His initial question was, if I have the test and test negative, will I ever have to have this conversation with my children…I told him no, he would not.  He then stated, I don’t go to the Dr. much but the next time I have any blood work done, I will include the test for this gene.  I informed him it was not that easy.  We would have to do some research to find somebody in his area that could do the blood test. 

Then I thought to myself, it should be and needs to be easier.  It is the year 2009 and we have the ability to personalize medicine and prevent cancer in patients that have the highest risk of enduring this horrific disease.  I felt and still feel; somebody has to do something.  Then I realized…..the somebody is me and all of you.  It is our generation that is going to make the difference in terms of the availability of these tests.

Roughly 56% of my great-grandfathers children have been affected with cancer.  It now is affecting the generations of his grandchildren and great grandchildren.  The statistics continue to startle me.  I recently learned that his last remaining son – who is a breast cancer survivor, had four daughters.  EVERY SINGLE ONE of them has had breast cancer.  That is 100% of his children!

Think about the five generations of my family, how this gene has impacted 5 generations.  Think of how many other generations are going to benefit from this knowledge.  Earlier this evening, it was stated that this gene impacts 5-10 % of the population – which equals 20-40 thousand cases each year.  However, that number only is indicative of one generation.  We all know that this gene is not isolated to one generation.  It continues to proliferate itself.  You have the ability to make a difference to generations and generations of people that have this identified gene in their family. I implore you, to ask the extra questions to respond to your patients needs.  My children, your children and your patients children are going to benefit or not from the decisions that we make today.

The picture behind me is a picture of my mother and her 3 sisters.  They were all in their 20’s with hopes and dreams of the future.  In the earlier presentation, it was stated that a parent has a 50/50 chance of passing the BRCA gene onto their children.  50 % of the women in this picture are dead….the women on your right, in this picture, are gone.