By Rachel Ellis
My family tree is full of women with breast cancer, many diagnosed at an early age.
My mother was diagnosed with breast cancer in 2000 at the age of 48. She tested negative for BRCA, the only genetic mutations being testing for at the time. She banked her DNA in case future testing could prove valuable. We knew that there must be something else going on to cause all the breast cancer in the family.
In 2016, my mother had expanded testing and received a diagnosis of CHEK2. I was tested in September 2016, and received my diagnosis, positive for CHEK2. I saw my surgeon that same week and had a prophylactic mastectomy in January 2017 to try to avoid the same cancer diagnosis as so many women in my family. I have never had one regret about this decision.
While breast cancer is the only cancer in my family, due to the increased risk of colon cancer with a CHEK2 mutation, I had a baseline colonoscopy and will continue to have screenings, as recommended.
I view my diagnosis as a blessing because I was able to take care into my own hands. Had I not learned of my CHEK2 mutation and understood there were things I could do to lower my cancer risk, I would have spent my entire adult life waiting for cancer.
My diagnosis allowed me to be proactive. I am a physician trained at a cancer center. I see my mutation diagnosis as a gift that many of my patients would be grateful to have. I feel blessed to have had the ability to make life-saving choices and control a part of my destiny.
FORCE provided me with important information to help me along my journey. There are so many website pages of educational material, blog posts, message boards, etc. All this information provided me with knowledge, empowerment and a sense of community.
My hope is that I remain cancer free and that my daughter did not inherit my mutation. That being said, I am grateful for genetic counseling and testing which can provide answers and opportunities. This is something that was not available to all the women my family lost. I am lucky.
Rachel Ellis, CHEK2 Previvor