The Big C

Be warned- I'm using my blog to vent. Last week, I saw an article about Kara Dioguardi and her decision to use surrogacy because she found out she was BRCA 2 positive and today Angelino Jolie comes out about her double mastectomy because she is BRCA 1 positive. Okay, this is coming from a med student who has had multiple lectures on the BRCA mutation, who tested negative, whose family is positive. That is my resume on this so take it or leave it.

Here is my fear: while I think it is great that these ladies can be open about what they went through, I predict there is going to be an uptick in the number of women who go to their doctors terrified that they have the same thing and will be requesting a test which their insurance doesn't cover/they can't afford. I have been through the testing. It isn't cheap. There is only one company that can do it since they somehow copyrighted the genes and it is $4000! And my great insurance (I'm not being sarcastic, it really is pretty good) only covered 10% of the cost.

Facts: BRCA mutations are pretty rare. Only 6% of breast cancers are attributed to either form of the mutation. Estimates are 1 in 300 to 1 in 800 are carriers of the mutation. THAT MEANS THAT NOT EVERYONE WITH THE MUTATION GETS BREAST CANCER!!!!! In genetics, this is referred to as penetrance. Yes, there is an increased risk. But should you base your life off of something you may or may not get in the future?

My mom found out she was BRCA positive over a year ago. She was fraught with worry about whether or not she had passed it to my sister or I. My sister was tested first and I finally gave in to put my mom's mind at ease. I did not want to be tested. I didn't want my decisions in life to be altered by something I may or may not have. After the results came in for both of us, there were conversations that included tears and remorse for what she had passed one of us. There was so much guilt on her part as she was dealing with treatment.

My mentor for my master's gave me a book that had a whole chapter on BRCA mutations. It discussed both sides of the argument of whether to find out or not. It was a very thought provoking read and I am thankful that my mentor passed it on to me. It didn't convince me otherwise, it actually strengthened why I didn't want to find out.

I posed this question to my mom: if she knew before she had had me that she had the mutation and there was a 50% chance she would pass it to me, would she have kept having kids as an option? The guilt she felt leads me to believe that she would have opted for adoption even though she claims she wouldn't have. That's a pretty huge life altering decision if you ask me. Not only for me (I'm pretty thankful she didn't know back then), but for her as well. And my dad, and my sister, and my whole family.

Genetics is a tough thing. The past two years of my life has been greatly affected by a single point mutation in the massive amount of genes we carry around. I have a huge suspicion that it attributed to the rift in my family. My mom's oncologist even tried to put a time limit on when things were supposed to happen if you had the mutation. No one can predict what the future holds, whether or not you have a mutation or not. So here is the moral to my story is- don't let a test determine your life choices. What will you miss out on if you do?