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Genetic testing gives mother, daughter ‘a voice and choice’ in their future

Debbi Mertes

Two aunts on her dad’s side and two great aunts on her mother’s side who had breast cancer and a maternal grandfather who had prostate cancer.

For years, 56-year-old Debbi Mertes enjoyed a relatively healthy life — despite the strong family of cancer that runs on both sides of her family.

So last year, when her sister Beverly told her that she had tested positive for a harmful mutation of the BRCA2 gene, Debbi was skeptical about her need to get tested.

But at Beverly’s insistence, Debbi talked with her family physician, Ascension Medical Group’s Rosalie Focken, MD, and decided to get tested to see if she also had the gene mutation indicating an increased lifetime risk for breast, ovarian and other types of cancer.

“I knew it was going to be negative,” says Debbi, a software developer for Ascension Information Services. “I was convinced that I was doing this for my sister, who had been through chemo twice for ovarian cancer."

To her surprise, she tested positive for the same gene mutation as Beverly, who is genetically her half-sister as their only common parent is their deceased mother, who never had cancer. Their other sister, Jolen, who has both parents in common with Beverly, also got tested, but her results came back negative.

What now?

Dr. Focken referred Debbi to breast cancer specialist Patty Tenofsky, MD, to discuss her risks and her options.

Dr. Tenofsky explained that women with the BRCA2 mutation have up to an 80 percent lifetime risk for developing breast cancer and up to a 20 percent risk for developing ovarian cancer.

Debbi had already undergone a total hysterectomy eight years earlier, so she no longer was at risk for ovarian cancer.

But to reduce her risk for breast cancer, she had three options:

  • Be monitored more frequently and aggressively so that any breast cancer she might develop could be identified and treated at its earliest and most curable stage.
  • Do the additional monitoring as well as begin estrogen-modulating medication therapy.
  • Or have both breasts surgically removed, followed by reconstructive surgery.

Initially, she tried to just put it all out of her mind — but she couldn’t. She talked it over with her husband of 35 years, Mark, a prostate cancer survivor whose father had died of the 

disease. “Why are you even debating this? Just have the surgery,” he said.

So in December 2015, she did.

Dr. Tenofsky performed her double mastectomy at Ascension Via Christi St. Francis and four months later plastic surgeon Mitchell Flurry, MD, performed a Deep Inferior Epigastric Perforator, or DIEP, procedure to reconstruct her breasts using living skin, fat and blood vessels moved from her belly to her chest.

Now a daughter's choice

Once healed and her journey behind her, “I couldn’t tell enough other women about the benefits of genetic testing,” says Debbi.

One of the women to benefit from her experience: Her daughter and only child, Courtney, who also tested positive for the BRCA2 gene mutation and consulted with Dr. Tenofsky.

“Having gone through the rounds of learning with my mom, I didn’t have to give it much thought,” says Courtney, a 29-year-old sales representative for Aerospace Turbine Rotables, noting that she didn’t want to do anything too aggressive because she eventually wants to have children.

Dr. Tenofsky recommended an annual screening mammogram followed six months later by an MRI. Courtney also consulted with her OB/GYN, Melissa Hodge, MD, with Wichita OB-GYN Associates, who recommended an annual well woman exam followed six months later by a pelvic sonogram.

“So every three months I have an appointment of some kind,” says Courtney, who plans to have her ovaries removed once she determines she no longer needs them.

In the meantime, she says it’s worth the peace of mind that taking steps to reduce her lifetime cancer risk has given her — a sentiment shared by her mother.

“We’ve been given the gift of having a voice and choice in our future,” says Debbi. “Not everyone is so blessed.”

About Roz Hutchinson

Roz Hutchinson is a Wichita wife, mother and chief spoiler of six grandkids and three Chihuahuas, a die-hard women's basketball fan, and director of Communications and Public Relations for Ascension Via Christi.