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Healthy You

Three Women, One Gene Variant and Their Life-Saving Decisions

Wednesday, February 01, 2023 9:52 AM

By Colette Urban

Since her father had died of colon cancer at age 60, Michelle Robles, of Des Plaines, heeded the advice of her internist and underwent genetic testing to see if she should get a colonoscopy even though she was only 35 years old.

Surprisingly, the results showed she was negative for colon cancer risk but positive with the BRCA2 mutation, putting her at high risk for breast and ovarian cancer.

"I always thought that this must have come from my Dad's side of the family since there is a lot of breast cancer on his side," Robles said. "I didn't realize until I met with the genetic counselor that my Mom should be tested, too."

Kathy MichelleRobles urged her 62-year-old mother, Kathy Kaatz McRae, of Riverwoods, to seek genetic testing, which revealed that she, too, has the BRCA2 mutation.

"I was stunned because there is no breast cancer in our family at all," McRae said.

Then McRae’s sister, Robbie Boudreau, 60, of Deerfield, underwent genetic testing and discovered she was positive for the BRCA2 mutation.

All three women met with medical oncologist and clinical cancer genetics specialist, Allison DePersia, MD,  of the Mark R. Neaman Center for Personalized Medicine, who explained the risks, recommendations and options to each of them.

Robbie AllieMcRae and Boudreau had two choices: a higher level of screening with mammography and MRI or a bilateral mastectomy and oophorectomy. They both chose the latter. An oophorectomy is surgery to take out one, both, or part of your ovaries. A bilateral mastectomy is surgery to remove both breasts.

"I'm a very athletic person and my husband and I love to travel," McRae said. "I want to be a part of life and not on the sidelines."

McRae underwent a bilateral mastectomy last October. She is scheduled to undergo reconstruction and an oophorectomy this spring after a vacation to Puerto Rico where she'll be practicing her yoga, hiking, paddling and surfing.

Her sister had her first surgery, a nipple-sparing mastectomy a year ago. More recently she underwent an oophorectomy and will undergo breast reconstruction after recovery.

"I'm healthy and I want to take these two high risk factors off the table completely. I also want to avoid chemotherapy at all costs," Boudreau said. "There's so much freedom and choice and control over how you want your body to look afterwards. I'm 60, but I still want to look beautiful to my husband and myself; my surgeon assures me that I will look and feel that way.”

Robles decided to undergo a double mastectomy and reconstruction utilizing her own muscle and tissue to rebuild the shape of her breasts, instead of using implants.

"This changes you physically, mentally and emotionally but I want to live forever for my children," said Robles, who has three children under age 9. She said it’s important to have a supportive, honest partner because decisions impact the whole family.

McRae asked her 85-year-old mom to get tested too and they found that the BRCA2 mutation did not come from her mother's side, but her father's side—they are all of Ashkenazi Jewish descent and grateful to have that medical history knowledge. Boudreau’s daughter, Allie, was also tested and received a negative BRCA2 test.

"Now people in our family are getting tested and that's a gift," McRae said. "I am incredibly grateful going through this with two incredible women—my sister and my daughter—it has been the biggest blessing of all.”

If you would like more information about genetic testing, please click here or call 847.570.GENE(4363) 847.570.GENE(4363).