Family History BRCA Gene

A lot of you have asked how I came to know that I had Breast Cancer. I recapped my diagnosis here but never really discussed how I came to that day. So in an effort to provide more information surrounding my diagnosis at such a young age I am going to try and cover some information regarding our family history and the BRCA genetic mutation. Hopefully this will provide some helpful information for those of you with family history of breast cancer and curious about your options.

In September 2005 my moms half sister, my Aunt Carol, underwent the BRCA genetic testing. Her test confirmed a positive result for the BRCA 2 gene. Carol had been diagnosed with breast cancer twice prior to this test (first at age 42 and again four years later at age 46). Given the family history it was assumed at that time that my grandfather, Byron, was the carrier of the genetic mutation. My grandmother, Katherine was married to my grandfather Byron and between the two of them they three children. Doctors  informed my mom and her two sisters, that they were at 50% risk for the inherited gene mutation as well, so it was recommended everyone have the test done.

In September of 2006 we learned my mom was positive for the BRCA 2 gene. Of the four daughters of my grandfather Byron, two tested positive BRCA 2 and two tested negative.

Flash forward. I was aware that with my mom being a carrier of the gene I also had a 50% chance of inheriting it, but never felt it necessary to know. At the time of her test result I was at such low risk being at my young age. I decided that I would wait, I was not going to act on it now and why fear something I could not do anything about (Or so I thought, more on this later). So I decided to not do anything. Assuming one day when I married, and had children, I would go ahead and have my ovaries taken. (Ovarian Cancer tag lined the silent killer, often detected when it is too late hence the recommended removal of the ovaries) (BRCA 1/2 are the breast cancer and ovarian cancer genetic mutations).

My parents after living in Texas for two years moved back to Louisville and my mom visited a new doctor. With this new OBGYN she began discussing our family history. The doctor kindly urged my mom to discuss the genetic testing with my sister and I. She explained that we should find out because we would get advanced screening and it would be best so we can be proactive.

In March of 2013, Angelina Jolie made headlines as she spoke about her medical choice to have a prophylactic mastectomy after learning of her BRCA 1 diagnosis. The world criticized her for making this choice before being diagnosed with Breast Cancer but she decided it was a choice she wanted for herself and her family. This headline along with my own mothers discussion with her OBGYN led me to discuss my options with my doctor. My doctor, of who I owe great thanks too, openly discussed with me the risk and my options. She advised me to have the genetic test done. Our conversation as well came up when discussing appropriate birth control. My OBGYN strongly discouraged anything that had added hormones, aware of my families history of breast cancer. The more we discussed, the more I began to ask myself about the genetic test.

July 2, 2014, I went in for my annual OBGYN exam. During this time a full breast exam was conducted by my doctor and she said everything looked great. Prior to leaving I casually said, “You know I have been thinking I may want to do the genetic test?” (assuming I needed to schedule a time to have it done). She said “I think that is great, we can take your blood today.” Surprised that it was such a simple thing as drawing my blood, I hesitated and then said “Great”. I remember leaving the office and telling my mom that I did it. She advised me to go back upstairs to make sure they know that I have had family members take the test before. (the cost is much lower in this case). I ran upstairs to make sure the test was conducted to include my mom and Aunt Carol as family members and headed to work.

I was told my result would come in a few weeks time. Not thinking much about it, I carried on with my day.

At the end of July, after a round of phone tag with my doctor, she informed me that I was in fact positive for BRCA 2. Devastating and scared I cried. I wrote about learning about this here.

I immediately began looking at my options. I read stories of women who underwent proactive mastectomies. Asked myself, Do I take my breasts now in advance? I ordered books on hereditary breast cancer, sought to be informed, brave and be wise. The funny thing is,  I had never done a self breast exam, I did not even know how. My fear, although present that day still seemed so far away. Breast cancer was something I accepted as something I someday would probably have but not anytime soon.

Besides so many people asked me what I was afraid of. Referenced that my mom was in her 50s and had never had breast cancer despite being a gene carrier. Many others scoffed at my decision, “Why did you do that? Why would you want to know? Now you’re afraid and for what?”

I kindly listened in one ear and out the other. It was a decision I made and although it was not the result I wanted I desired to know and now I knew.

As a result of my genetic test my doctor ordered an MRI. She advised that due to the dense breast tissue of younger women, mammograms often show false positives. She went on to explain that an MRI done with injected dye would be the most comprehensive way to screen. Without a thought I scheduled my MRI for September 15, 2014. (check it off for this year). Just a day after scheduling my test, my mom booked her flight to join me for a weekend in Denver. We were going to walk in the breast cancer walk (of all things) and she said, “Why not have your MRI while I am there so I can go with you.” So I changed the date. September 25, 2014 it was.

I will not go into the details but what I learned from my MRI was that unbeknownst to me I had breast cancer. Although I would like to know things like, How long had it been there? When would I have felt it myself? But I cannot. All I know is that my choice for the genetic test, as encouraged by my doctor and the MRI test discovered my breast cancer.

I will continue to write more and answer questions some of you may have. Perhaps why I chose a mastectomy over a lumpectomy? or Why not just to take the one breast? Why I did not get to keep my nipples? Can I pass the gene on? All of these and more. Only because so many of you have asked. So many of you do not know, and why would you? I certainly did not. I hope my story can be helpful.

So I join now my two aunts, my grandmother, and so many in my family as survivors. Who chose to live, be strong and fight for understanding, research and a cure so someday others will not have to walk through this.

Have a wonderful Friday everyone.

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