Sheila's "I am Oneinforty" Story

I am one in forty. I am alive today because I had genetic testing.

Three years ago at age 72 I received an email from my first cousin whom I had not heard from in a long time. She found me on Facebook. My mother’s side of our family drifted away after my mother died from pancreatic cancer in 1958. My cousin wanted to let me know that she had just been diagnosed with pancreatic cancer and, after a genetic test, discovered she had the BRCA2 gene mutation. She also wrote that another cousin was tested after finding that she had breast cancer. She also had the BRCA2 gene mutation. I knew then that my mother must have been the carrier. I immediately called my doctor to schedule the genetic test and learned that I too have the BRCA2 gene mutation.

Serendipitously, it was also time for me to have those dreaded GI tests. In addition to a colonoscopy I had an endoscopic ultrasound of my pancreas. The ultrasound showed two very small non-cancerous lesions but had the potential of becoming cancerous.

Needless to say I was overwhelmed. My family was overwhelmed. Since I have always been a “cup half full kind of person,” I knew I would do everything I could to continue to enjoy the wonderful life I have. I needed a plan. Living in Boston is a gift. Having the best of the best in healthcare is a blessing. I chose to use the MGH Cancer Center. I met with a genetic counselor, a breast oncologist, and a GI cancer specialist. We discussed the treatment protocol for individuals who have a BRCA2 gene mutation…removal of ovaries, possible bilateral mastectomy, and vigilant surveillance of my pancreas. I took a very deep breath and forged ahead.

First I had my left ovary and fallopian tube removed (the right one had been removed 10 years ago). The operation went fine…but the pathology report indicated that there was cancer in my fallopian tube. The latest research indicates that the cancer I had is most likely the precursor for ovarian cancer. Wow…how lucky am I?

Six months later I met with my breast oncologist again. I had had a clear mammogram. During the breast exam he felt something. Another mammogram and an ultrasound were ordered immediately. Once again the mammogram was clear but the ultrasound showed cancer. The confirming biopsy was a day later. I had breast cancer…caught very early. I chose to have a bilateral mastectomy and reconstructive surgery.

The past two years have been life changing for me. I have an amazing family and very supportive friends. For a long time I wondered whether I would ever get my strength and vitality back. I am happy to report that I am back. I just celebrated my 75th birthday. My husband and I are traveling again and trying to make each day special. I am vigilant about my health and stay up to date on the latest research. Since I am in an Ashkenazi family with a high risk for pancreatic cancer I am tested yearly. So far so good…..In a nanosecond life changes.