{legacy} my BRCA story

Saturday, October 05, 2013

My story is still in its first chapters. It has mostly been played out within my heart and in quiet conversations with my husband, so it is a hard thing to share it here with you.

Don't worry, I am totally healthy. Right now I am. But I also have a genetic mutation called BRCA1. It's a mutation in one of my genes that usually repairs broken DNA and fixes them before they become an issue. BRCA1 is one of a pair of mutations that greatly increase my risk for breast and ovarian cancer. Here are some stats:

  • Breast Cancer risk in the general population is around 11 or 12%. Breast cancer risk with a BRCA1 mutation jumps to 80%. Not jumps up 80%, jumps to 80%.
  • Ovarian Cancer risk in the general population is around 1.4%. With the BRCA1 mutation the risk increases to 55%.
That is of course, without preventative measures. The blessings of knowledge and modern medicine can help me bring those numbers down to or below the rates of the general population. But it will be a hard road to get there.

I have a pretty lengthy family history of breast and ovarian cancer, especially on my dad's side. My dad was tested for the mutation in the mid 1990's and tested positive. My parents told me about this while I was in elementary school. I really only understood that I had a 50/50 chance of having a gene that would make it probable that I'd get cancer one day. When I was 23, my sister and I participated in a genetic research study. We went for a day long information session and free genetic testing to find out if we had inherited the mutation from my dad. On the day of my test we were blessed to learn a lot about the mutation, our chances of getting cancer if we were diagnosed positive or negative, and different options for reducing that risk. So I felt pretty prepared for the results either way. When the genetic counselor told me that I had a positive result it didn't weigh to heavily on mind. To me it was like just one of the challenges that life throws at you.

In fact, I was grateful to have found out. Knowing so early in life gave me the opportunity to take action to decrease my risk substantially, opportunities I would not otherwise have taken. Since my family had a history of mostly ovarian cancer, I must have just focused on that side of the risk when meeting with the genetic counselor and missed the breast cancer risk. I made a plan to have my ovaries removed at 39 after I had gotten married and had lots of babies. That way my risk would be extremely low up till that age, then completely removed along with my ovaries after.

So with that plan I had no worries for the next six years or so. My sister and mom and I tried to participate in local run/walks for breast and ovarian cancer research funds every chance we got. I also participated in a couple of research projects directed towards women with BRCA mutations. I felt peaceful knowing that I was doing all that I could to prevent getting cancer. Then, if it did happen, I would have the peace of knowing that it was part of our Father in Heaven's plan for me. I was anxiously engaged in the work and was always aware of it, but didn't let it worry me too much.

In the last few years, though, it has come to weigh much more heavily on me. I had told my husband what I knew about the mutation and thought it endearing that he was much more worried about it than I was. We made an appointment to speak with a genetic counselor together, so he could have all the information and so I could be refreshed. I'm glad we did because not only had I missed the fact that my breast cancer risk was dramatically high as well as ovarian, but more information and new approaches had come into play in the mean time. 

Discussing our options with the geneticist  we found out that with regards to my ovarian cancer risk, one main course of action was recommended. Since ovarian cancer is hard to detect early and the mortality rate of ovarian cancer is high, prophylactic oophorectomy (preventative surgery to remove the ovaries) is suggested at age 35. In regards to my breast cancer risk, there are two main courses of action, either a rigorous course of screening or preventative double mastectomy. Since the mortality rate of breast cancer is relatively low when caught early, some BRCA carriers choose to engage in constant screening efforts to find cancer earlier. The risk of getting cancer is still high, but risk of dying from cancer is much lower. On the other hand, when you remove the majority of the breast tissue with prophylactic bilateral mastectomy (PBM), the risk of getting cancer is extremely low, at or below the rate of the general population. It becomes harder to find early, so the mortality rate of taking the PBM route is the same as the surveillance route. It's a hard choice to make, basically deciding between 2-3 major surgeries or probably going through a bout with breast cancer and surviving it.

Hubby and I have discussed the options and think we know which route we'll take, but we have a few years to really think about it before we have to make any decisions. It's a bit heavier now, knowing that I have a high risk for both cancers, but knowing that I can take action to decrease both of those cancers down to really low numbers is exciting and empowering.

I guess part of the reason why it hasn't really started to sink in till now is that I've had a lot of time to get used to the idea, knowing about it in generalities since I was little, getting a real grasp on my ovarian cancer risk for a number of years, then layering in the breast cancer risk on top of that seems to have kind of let me get used to it in steps. I've also been so focused on what we'll be doing to bring the numbers down that I haven't really thought about getting it. If you bring the numbers down low enough, then the numbers are so low you don't have to worry about getting it and you don't have to think about it.

But with October being Breast Cancer Awareness Month and yesterday even being BRCA Pre-vivor Day, it's been on my mind. My focus has started to shift to how I would react and what I would do if I actually did get cancer. It's a place I haven't really explored in all the years I've been aware of my BRCA.

I don't want to get cancer. I don't want to be name on the back of my little girl's t-shirt in 20 years, underneath the words "In Memory Of", as she walks in a sea of pink and teal at a Breast or Ovarian Cancer walk.  I want to be there walking by her side. I want to be able to hold her hand when she is a young adult and finds out if she has the mutation herself. I want to tell her from experience that there are vast amounts of hope to be had and that she doesn't have to die of the same disease her great grandmas did. I want to show her that we are the major contributing factor in the quality of our lives. I don't want to her to be scared like I am scared.

So I guess I am writing this for her. So she knows if/when she goes through these same things, makes these same decisions, feels these same emotions, that she isn't alone. That she has a legacy of amazing women that came before us, and at least one woman who had faith and hope along this journey. That's me. I have faith that every thing happens for a reason, I have grand hope in our future, and I know that love is the reason that it all makes sense.

So go hug your mommies and tell them thank you. Then next time you are in the shower, show yourself some consideration and start doing breast self exams so that you too can know that you are doing everything you can to be here to tell your little ones you love them.


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3 comments

  1. Thanks for sharing this. I wish the women in our family would discuss this a bit more. I seem to remember that my Dad turned out negative so my sisters and I haven't worried much. But now that i am in my forties and having issues, it is still a spectre of the future.

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  2. You are awesome for being so open and honest about this. So many women and families have had to endure this type of pain. We've had various types of cancer pop up in our family, so it's wonderful to raise awareness and get the needed checkups. You are doing everything the RIGHT way :) HUGS

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  3. We all have to keep sharing our stories…knowledge is power. http://amybrcastory.eventbrite.com

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