My story is…I did not do genetic testing when diagnosed the first time in 2002. I did a lumpectomy (right breast), chemo, radiation and did Tamoxifen and Arimidex. Was ER+, PR+, HER+. My dad was in hospice for prostate cancer and my kiddos were 8 1/2 and 12. Had too much on my plate. Besides at the time, the genetic testing was not covered by insurance, was expensive and you could have trouble getting life insurance and medical insurance.
Finally did testing in 2008. Was BRCA negative. Genetics counselor suggested that I do further testing. Did further testing and that’s when I found out about being CHEK2 positive. Had my mom tested a few years later and she was positive also. My brother’s son is also CHEK2 positive. However, my nephew hasn’t told his dad, my brother, about being +.
As a result of finding this mutation, my oncologist and I got a plan together. I could have done a double mastectomy right away, but we decided to wait. So we came up with an aggressive screening plan. I would have a mammogram and then six month later a breast MRI. I had also decided at the time of finding out about CHEK2 that I would have a double mastectomy the first time I would have to have a breast biopsy, good or bad. Had no issues until December of 2017. In 2017 we were trying to figure out why my platelets were so high. My oncologist had me do my breast MRI earlier than scheduled. As a result, there was a tiny spot about the size of a pin head on my left breast. Biopsy showed atypical cells. I could have waited 6 months. Since I had made the decision previously about having a DBM if I had a biopsy, my decision was to do a preventive double mastectomy with reconstruction right away. Little did I know, that decision would actually turn into a treatment and that I would be diagnosed with DCIS, stage 0, ER+.
Side note, because of the high platelet count I also had a bone marrow biopsy. The bone marrow biopsy revealed a blood disorder or chronic leukemia called Essential Thrombocytosis or ET. My ET has since turned into Polycythemia Vera or PV. I will live withs condition the rest of my life and there is no effect on my lifeline as long as the condition is being treated. I am on meds for this. I truly believe my initial breast cancer drugs of Adriamycin and Cytoxan had a hand in this disease. I am on several forums and several people who had these drugs have the same condition. Take away…if I wouldn’t have done the initial chemo..wouldn’t be here or would be metastatic.
So the take away here…if I would have known about the CHEK2 mutation at the time of diagnosis, I would have done a DBM. In 2002, there wasn’t much testing for CHEK2 anyway. I still have no regrets about my past treatments. I truly believe in a cancer journey, you need to arm yourself with all the knowledge you can to help you live a long life.
I know this is long, but wanted to give you some background. So this two time breast cancer overcomer may live with a chronic leukemia, but cancer will not stop me from living and giving back to others.