"What led you to doing the testing? I knew I had a strong family history of breast and 'female' cancer, as they called it in the 50's and 60's for anything involving the lady bits. My paternal grandmother was diagnosed at 33 and passed at 35. Three of her sisters also had breast/ovarian cancer, and all passed between the ages of 40 to 50. On my dad's side I have no other first- or second-degree female relatives. That is, no aunts, sisters, or cousins. We're a small family of all men, except for me. So I didn't have much current history, but my grandmother was close enough. I decided to get tested to 'rule it out' since I'm approaching my grandmother's age at diagnosis (32) and I'm about to try having kids.
"What were your results, and what choices have you made based on the findings? So....about that 'rule it out' thing...Psych! I am BRCA1 positive with a c.5266dupC mutation. I'm also RAD51C positive, another mutation that increases ovarian cancer risk. The BRCA mutation is an Ashkenazi Jewish mutation...except I'm not Jewish, or am I? My family is from what is now Western Ukraine, but used to be Poland and previously Austria. In my readings, I've found this particular mutation is common in the Jewish population, but also Polish women from that same area.
"I have not made decisions about what I will do just yet; however, I do feel like bilateral mastectomy and oophorectomy are in my future. It's a question of when, not if. I'm still meeting with doctors and I've had my first mammogram (made me feel kinda old...) as well as a transvaginal ultrasound and CA125 blood test. Everything has come back clean, so I'm in the driver's seat now. My biggest question is whether I want to have a mastectomy before or after trying for kids. Ugh. No easy answer and I go back and forth every day.
"Was payment an issue? Payment has not been an issue so far. I've had a few small co-pays, but the tests and screens have all been considered 'preventative.' Since my initial meeting with a genetic counselor through testing and my mammo/ultrasound, I've only paid about $100 out of pocket.
"How have you discussed these decisions with your family? I've tried to discuss with my family and friends, but most people don't know what to say. People say things like 'Now you can make an empowered choice,' and, 'Are you going to do something crazy like have a mastectomy?!' First of all, I have never felt 'empowered.' Nope, I've been pissed, sad, confused, scared, and lonely, but never empowered. I feel more like I'm making a choice with my back against a wall and the enemy approaching. And yes, I AM considering something 'CRAZY' like removing body parts to prevent cancer. There was only a 25% chance of me inheriting this mutation, and I won that drawing. You think I want to mess with a greater than 2/3 chance I will seriously GET cancer? Heck no. Especially with 80% of BRCA1 folks getting triple negative cancer. Forget it! If people take time to understand the risk, they get it better, but no one will be as scared as the person with the mutation.
"What suggestions would you have for others? ONE. DAY. AT. A. TIME. It is very easy to get wrapped up in a whirlwind of 'ifs' and 'maybes.' Right now I am trying to take my life one day and one doctor's appointment at a time. It is very stressful and feels like forever between appointments and results and appointments, but try to relax and focus on your life today. Exercise. Eat well. Connect with others about your stress in whatever way works for you. But don't let the present time escape you entirely. I refuse to live in fear!"
-- LuckyDuck7, tested positive for BRCA1, c.5266dupC, and RAD51C genetic mutations