Beach Watch

Beach Watch

Friday, April 11, 2014

BRCA1 and My Family

My maternal grandma married young, at age 13.  By the time she was 20, she had been married twice and had children by both husbands. Over the next several years she added to her family, giving birth to a total of fourteen children, raising thirteen to adulthood.

In 1987 one of her younger daughters, my aunt, was diagnosed with Stage I breast cancer.  She had one breast and thirty-two lymph nodes removed.  Seven of the lymph nodes were positive for cancer.  She had reconstruction followed by chemo and has been cancer free for 25 years.  In 2011, she had prophylactic surgeries including a mastectomy and a bilateral oophorectomy.

In 2000, at the age of 70, Grandma was diagnosed with Stage IIIC ovarian cancer.  The doctors removed an eight pound tumor.  They said it was not a familial cancer because of Grandma's age at diagnosis.  Grandma fought a long, hard battle for almost eight years.  She often said the cancer would not kill her and planned to live until  96.  Unfortunately, Grandma passed away on September 10. 2008 at the age of 78.

Last year, 24 years after her initial diagnosis of Stage I breast cancer, my aunt tested positive for the BRCA1 gene mutation.  That one piece of information sent our family on quite a journey.  Shortly thereafter I found out one of my cousins, who is battling inflammatory breast cancer, also tested positive.  Since her mother passed away from ovarian cancer it was initially unknown as to which side of the family carried the BRCA1 gene mutation.  One would have thought that it was her mother who passed down the mutation, when it was in fact her father.

I tested for the BRCA1 gene in June 2011.  I received my results a few weeks later on my 43rd birthday.  The nurse at my doctor's office said she didn't understand the report, but she would read the results to me.  I knew exactly what it meant.  I had tested positive for the BRCA1 gene mutation.  I told my husband and began to cry.  I called my mom.  While I was on the phone with my mother, call waiting clicked in.  It was the nurse at my doctor's office calling back to tell me she had read the wrong report.  She did not know where my report was.  I waited for what seemed like an eternity.  What a great birthday present!  Just as I was about to call the doctor's office back, the phone rang.  They had found my report and I was negative for the BRCA1 mutation. I don't know how many times I asked, "Are you sure?"  What a roller coaster ride! I was emotionally worn out.

Two weeks later I met with my doctor.  I was still in doubt and wondering if I had been given the correct report.  Even after receiving it in writing, I still wonder if it's really true.  I had decided if I had the BRCA1 mutation I would have the prophylactic bilateral mastectomy and reconstruction.  Now what do I do?  I should be thankful and I am, but I struggle with the guilt that I am negative when so many members of my family are positive.  Why am I negative?  These are questions no one can answer.  It's the difference between a flip of a coin.  Each family member has a 50/50 chance of having the genetic mutation.  I won the coin toss.

To date four of my cousins have tested for the BRCA1 mutation.  Two are negative and two are positive for the mutation.  My mom and five of her sisters have also tested.  All of them are carriers of the BRCA1 gene mutation.  The remaining brothers who are alive have not tested.  Three of my aunts had prophylactic surgeries, two without complications.  Another aunt will be starting her surgery journey in the next few weeks.

We now know that Grandma passed down the gene in our family. It may seem extreme or unfair to some that my family has so many members dealing with this.  Many of us believe that it is a blessing the Lord has given us.  It is an opportunity for my family members to  make a choice to have prophylactic surgeries to greatly reduce their risk of breast and ovarian cancer.  I take comfort in knowing this journey has brought our family closer together.

I know the Lord is with us no matter what.  I know with His help, we can do all things. And we know that all things work together for the good for those who love God, to those who are the called according to His purpose.  Romans 8:28 NKJV

Bad things may befall us, but if we allow and seek His will, the Lord will help us through. Sometimes, we get so caught up wallowing in our pit of misery we forget to look and see what we can learn and what we can use to help others in similar situations.

by: Kristi Ward McMurtry
The Pink Moon Lovlies: Empowering Stories of Survival
published 2013



Since this story was published, much has changed. We now know that eight of Grandma's children are/were positive for the BRCA1 gene mutation.  Of my cousins, nine have tested.  Five are/were positive for the mutation.  One cousin was just recently diagnosed with Triple Negative Stage I breast cancer and had a bilateral mastectomy.  She will start 16 weeks of chemo soon. My cousin that was fighting inflammatory breast cancer lost her fight on April 3, 2014. She was 43 years old.

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