Genetics 101

December 8 – another appointment!  Today, Bri and I met with a genetics counselor to talk about testing me for the breast cancer gene.  The session lasted for about 90 minutes and again, I felt like we were back in a classroom learning about genes and chromosomes.  The counselor also created a little family tree outlining all my relatives, their health problems, and cause of death.  It was actually quite interesting and I asked our counselor if she would send me the slides (still waiting on those).  The night before we went in for the appointment, Bri asked me why we would want to know if I have the gene or not, since I already know I have breast cancer.  His question confused me and I didn’t have time to really think about why we were considering this test.  After meeting with our counselor, it was crystal clear and she did a great job of explaining everything to us.  

The test itself is simple.  I chose to give my saliva rather than endure another needle to draw blood.  It was then sent off to be tested for the gene mutations BRCA1 and BRCA2.  If I test positive for BRCA1, then my cancer is considered hereditary and I will be at an elevated risk for developing breast cancer in my other breast or for reoccurrence.  If I have BRCA2, then I have a higher risk (than most women) for developing ovarian cancer.  Some women who have BRCA1 opt for preventative surgery (i.e. a mastectomy) while others just maintain a tighter schedule for screenings.  Women with BRCA2 often will have surgery to remove their ovaries and fallopian tubes.  Again, we are not making any decisions until we know all the facts and taking it one step at a time. 

The test is pricey (about $3,400) and insurance companies typically do not like to cover this test and often deny the request.  However, the genetic consultants do all the appeal work for us and they felt confident that they had a good argument.  Although I’m young and have no family history of breast cancer, the genetic counselor felt that the strongest argument was that there is mostly males on my father’s side and yes this gene can pass through males.  Given that my father’s side is mostly men, there are a lot of unknowns which would provide the case to the insurance company. 

Finding out whether or not I have the genes is important to me.  I’m sure that it will set off another wave of research and decisions if I do have the genes, but I need to know.  If I do not have the genes, then there is some other cause for my cancer, possibly environmental. 

Again, we find ourselves waiting.  We should have the results at our follow-up appointment on December 27.

This entry was posted in Health & Well Being, My Breast Cancer. Bookmark the permalink.

One Response to Genetics 101

  1. amyreinink says:

    You’re amazing … both brave and bubbly! I’ll be with you every step of your journey! XOXO

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