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Margaret: Genetic Testing

Dedicated to tomorrow's foresight

Both Margaret’s mother and father were diagnosed with breast cancer. For this reason, she knew there was a strong possibility that she herself may be genetically predisposed to the disease. Although it was suggested that she have genetic testing at the time of her parent’s diagnoses, it wasn’t until several years later that she felt ready to receive genetic testing and find out her own risk for developing the disease.

When her father was diagnosed with breast cancer, Margaret knew that it was rare. He underwent a mastectomy and radiation treatment. Unfortunately, since male breast cancer is rare and not typically screened for, it is often found in later stages. After being disease free for five years, and a courageous fight, her father passed away from the disease. It was 6 months after her father’s diagnosis that her mother received her diagnosis; today she is doing wonderfully.

“During that time I knew that I may be genetically predisposed to the disease, but I put off getting tested. I wasn’t ready to find out, and didn’t want to worry about the consequences. It wasn’t until my own doctor encouraged me with her own battle with breast cancer that I finally decided to undergo genetic counseling,” said Margaret.

Margaret met with Rachel Barnett, MS, genetic counselor with the Yale Cancer Center Genetic Counseling Program. They discussed her unique family history and discovered her risk for developing breast and ovarian cancer. Margaret described the process as finally coming out of the dark, but finding yourself at a crossroads. She hadn’t realized how closely ovarian cancer and breast cancer can be related, and that she may be at an increased risk for both.

“The whole process was amazing, but also scary. Rachel was wonderful and helped me through every step at my own pace. It was important for me to see the concrete facts and not to just hear that I may get cancer, but to actually see my risk,” said Margaret. “It was not as if diet, lack of exercise, or environment had caused this. This was decided before I was born, and once you accept that fact, you can move forward and figure out the best way to protect yourself.” It was an overwhelming experience for Margaret but she explained that for her, the more information she had, the better decision she could make.

After genetic counseling and testing, Margaret learned that she does carry the BRCA2 mutation that predisposes her for both breast and ovarian cancer. Based on that knowledge, she was then faced with what proactive actions she should take to limit her risk. Her decision making time was cut short when Dr. Thomas Rutherford, Director of the Yale Cancer Center Gynecologic Oncology Program, informed her that her CA-125 was elevated, a protein that is a blood marker for ovarian cancer. She then had to make a decision sooner rather than later.

Margaret explained that in life there are not a lot of things you can know about before they happen, but genetic counseling allows you the foresight to take action to prevent cancer and protect yourself. She underwent a hysterectomy which revealed no traces of ovarian cancer, so follow-up treatment was not needed. She feels grateful to have been able to take these preventive measures when she did, with a strong support network around her.

“A support network had built around me and I didn’t even realize it. My husband and two children have been amazing and I am so thankful. There are people that come into your life that will stay with you forever, and the people I have met, my doctors, nurses, and other survivors, are like angels sent to help me through this,” said Margaret. “I received the best possible care that I could have, and it was right in my own backyard.”

Even before the process of genetic counseling and testing began, Margaret knew that it would change her life. She feels lucky that she was given the opportunity to decrease her chances of developing cancer, and feels that research is the key to eliminating the disease altogether. “I realize that it is women, and men, who have come before me that allowed me this knowledge. Steps such as getting genetic testing are the steps that we need to take to empower ourselves to make good choices and to reduce the risk of developing cancer. During my decision making process I discussed my options with doctors, family and friends. I felt guilty because there were people battling active disease while I was feeling sorry for myself. It was hard to remember that I wasn’t sick, but that in a way I was given a gift,” said Margaret.

Margaret’s mammograms show some irregularities, and she is still facing decisions related to her risk for developing breast cancer. But for now, it is enough to know that she is taking actions to ensure she will live a long life. “I know that there is a chance my children may carry the mutation, but I am not dwelling on that fact right now because they are so young. Hopefully by the time they will have to deal with it, cancer will no longer be an issue,” said Margaret.

Being an only child, Margaret has not met anyone else who has had both parents diagnosed with breast cancer. She described it as a lonely feeling, but knows that with genetic testing, she has not only changed her life, but likely saved it as well.