Tuesday, January 1, 2013

Genetic Testing

  I finally had the "guts" to see a geneticist. After trying to get the referral and compile all of the information I had about my family history, I went to UNC for an appointment. There were many questions that I had going into this appointment, though I already knew in the back of my mind what would ultimately be said. My Mother was BRCA1 and BRCA2 negative, so part of my mind held out hope that maybe the geneticist would just tell me it was a coincidence...that my family just had some bad luck. They won't test me for the BRCA genes, since my mother was negative...there really isn't a point. 

  The doctor took all of my information and family history and drew up a family tree. I have never done it that way before...I just said it out loud. It's amazing what writing it down does, in a bad way. It was so black and white, so nerve wrecking, so real. Though I may not be BRCA positive, the doctor said there was no doubt in his mind that there is some sort of genetic mutation in my family. Unfortunately, while my Mother did the BRCA testing, she didn't proceed with any further testing (it was about $700 out of pocket) and the doctors convinced her that was as far as it went. At this point, until there is more research, or I develop breast cancer myself, they would be unable to tell me what genetic mutation is causing my families higher risk with breast cancer. At this point, there is a 45% chance that I could get breast cancer, myself. Though 45% is better than 50% and better than anything above 50%...it's still 45% chance. I could go on living my life with this as a possibility and remain active in self checks, and possibly never get breast cancer. I could also remain active and wait for it to happen, and catch it early. Like I have said in my initial post, I am twenty seven, my mother was diagnosed at forty three...that means they won't start checking me (I can do my own checks, and have since I was 17) until I am thirty three years old. 

   Realistically, I could get in my car tomorrow, and get in a car accident. Maybe my chances of something else happening could be more than my chances of being diagnosed with breast cancer. Obviously, I wouldn't chose to get in a car accident...or get breast cancer. My choice is to stay alive. Be proactive. My choice is to control my body before it can control me. My choice is life. If I can do anything in my power to stay alive, I will do it. I will fight...for my children, for my husband, for my family...for me. 


  1. Katie you are very brave.
    --Suzy's friend Ginny

  2. Ginny!! I have heard so much about you! Thank you so much for giving Suzy so much information for me! I really appreciate the help and advice!!