Diagnosed with BRCA
When I was diagnosed with breast cancer, I knew nothing of the BRCA gene. My friend mentioned it in a conversation, “ Will you get tested for the Jewish Gene?” When I raised this
question to my surgeon, she said we should do it, get tested, but proceed with the surgery as planned since the likelihood that I was positive was very small. No one in my family, to the best
of our knowledge, had breast or ovarian cancer.
Where was the gene?
One week after the surgery, the result of the BRCA test came back, I was positive for BRCA 1. I couldn’t believe the results, I got tested again. Immediately my mother and sister got tested, both are negative for BRCA. What this means is that my father was the carrier. Men can carry and pass on this mutation to their children. My father came from an all male family and sadly is no longer with us. Therefore, the gene was hiding in his family of all males.
What does this mutation do?
This genetic mutation, BRCA, increases the risk of breast and ovarian cancer. Women with BRCA 1, like myself, have a 60 to 80 percent lifetime risk of breast cancer and 20 to 45 percent lifetime risk of ovarian cancer. I went through both cancers in one year, a very difficult process for me and my entire family.
What do we know about BRCA?
We know BRCA is more prevalent in Ashkenazi Jews, 1 in 40 carry the mutation. After my treatments and recovery, I was determined to help other families. Awareness and screening for the mutation was necessary in high risk communities. This is how the program Prevention GENEration was born. In collaborations with the Israel Cancer Association, Prevention GENEration was founded to raise awareness, increase genetic testing and provide access to genetic counselors. The program has been of great help to many people and a tremendous success. Thousands have taken the on-line questionnaire to determine if they fall in the high risk group and need genetic testing and counseling. Brochures with information in 4 languages are available in many hospitals throughout Israel. A coordinator helps people with questions and facilitates genetic counseling, which can take months in social medicine environments.
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I knew my illness was going to be the trigger to something positive, this program. With the support of my husband Alex, this program was founded with the goal to help many individuals get tested and take precautions to avoid developing cancer or detect the cancer early, like in my case. One individual with knowledge can save others of its family by sharing the information and the diagnosis.
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Do not be afraid!
Fear and Stigma of being BRCA can be a tremendous obstacle to testing. People can seek professional guidance in how to deal with these fears. My advice is to do whatever it takes to avoid developing cancer. Having gone through 5 surgeries, two rounds of chemotherapies and a very hard recovery, I can only recommend to avoid getting to the point where I was. I had no information, I was in the blind about BRCA, I was late to know.