Tuesday, September 14, 2010

Preparing for the Genetic Counselor

In 9 days I take a test that only has 3 results.  I remain at 33% chance of BC in my life time, I increase due to some mutation not related to the BRCA gene, or I have one of the BRCA gene mutations.

In cases in which a family has a history of breast and/or ovarian cancer and no known mutation in BRCA1 or BRCA2 has been previously identified, a negative test result is not informative. It is not possible to tell whether an individual has a harmful BRCA1 or BRCA2 mutation that was not detected by testing (a “false negative”) or whether the result is a true negative. In addition, it is possible for people to have a mutation in a gene other than BRCA1 or BRCA2 that increases their cancer risk but is not detectable by the test(s) used.  - from www.cancer.gov
The whole point of this test is to determine your risk level as accurately as possible so that you can take the correct preventive measures.  I don't want to get to cancer!  I am 18 months away from the beginning of my family history with breast cancer.  I want to stop it by any means necessary and if I have the opportunity to do so, I will.  Maybe that sounds severe or exaggerated but I wouldn't play Russian Roulette with a gun 1/3 filled either!

I know I could skip the test and continue routine surveillance, but that doesn't sound right for me (although I foresee a lifetime of it anyways).  A new doctor appointment every 3 months for the rest of my life spent waiting to hear:  You have breast cancer.  No thanks!  I don't want to detect it early, I don't want to get it and survive, I don't want treatment, chemo, radiation, I don't want cancer period.  I want to go back to the day that I only needed an annual mammogram. 

And as much as I don't want to wish BRCA on anyone, let alone myself, knowing I'll never be a true negative makes me want to be a positive.  I have an actual answer then, I have real numbers to work with, real risks, real outcomes, not hypotecticals based on a high risk.
*Exhale*  Back to my list of questions for my genetic counselor.


  1. Hey Kimmi, it sure is ok to be emotional about this whole thing. It would be pretty rare if you weren't. I hope you get the answers you need from your genetic counselor. I thought I knew everything going into my appointment but they really know their stuff. Make sure you have a way to follow up with your counselor with any questions that pop into your head in the future. I email mine every so often as new things come up. They are a great resource. As for your friends, they may not understand your decisions at first but I bet a lot of them will come around. It's hard for them (especially the women) because they are putting themselves in your shoes and let's face it: who really wants to cut off their boobs? In the end though, you do what you need to do and if they aren't there for you then screw them. I know this stuff is probably on your mind 24/7 but try and do something fun while you're waiting for the next 9 days to go by and then the additional 2 weeks or so to get your results back.

  2. hey kimmi,

    i had the feeling that i wish i was brca positive too. it would have been easier to explain to people why i was having a prophylactic double mastectomy.

    i eventually came to terms that apart from a brca mutation or not, my personal risk was too much to live with. it was ruining my quality of life and i was plague with constant fear.

    now i am on the other end, feeling sane, and now realizing that i am now terrified to find out my brca status because i don't want to have to possibly worry about my ovaries. a much more difficult decision to make since i am single with no children.

    i pray your results are negative so you don't have the added burden of worrying about screening your ovaries...or perhaps that is already a constant fear as well an it is in your family history.

    either way, i pray you make the decisions that are right for you and that you are at peace with them.