Gene mutation affects group of sisters

2013-05-26T00:00:00Z 2013-05-30T11:23:03Z Gene mutation affects group of sistersVanessa Renderman vanessa.renderman@nwi.com, (219) 933-3244 nwitimes.com

MUNSTER | About a dozen Christmases ago, as five sisters unwrapped their presents, each received a bag of flaxseed.

It was a token from their mother, who wanted to give her children the gift of good health.

Months earlier, the siblings learned they carry a genetic mutation that dramatically increases their risk of developing certain cancers, including breast, ovarian, pancreatic and colon.

Flaxseed, some believe, has properties that help prevent cancer.

But the five sisters – 37-year-old Niki Quasney, of Munster; 38-year-old Amanda, of Munster; 44-year-old Jodi; 45-year-old Marci Webb, of Chesterton; and 48-year-old Lisa Sabol, of Chesterton – took a more drastic step than adding flaxseed to their diet. They had double mastectomies to remove their breasts and oophorectomies to remove their ovaries.

Actress Angelina Jolie announced earlier this month she underwent a double mastectomy to reduce her chance of developing breast cancer. She carries the inherited gene mutation, BRCA1, that increases her risk. 

Although glad Jolie's announcement is drawing attention to the issue, the sisters are disappointed in the reaction from doctors and so-called experts in the media who are not mentioning the increased risk of other cancers associated with the gene mutation.

"People are being misled," said Amanda, who requested her last name not be used.

As each sister tested positive for the genetic mutation and discussed risks, statistics and numbers, they repeatedly heard they could wait until they were age 35 or 40 if they wanted to have their breasts or ovaries removed.

"There's this whole '35-to-40' thing that's so frustrating," Quasney said. "If you test positive, you're really playing with your life. I'm an example of supposedly doing all the right things."

Quasney has been battling Stage 4 ovarian cancer for four years, even though she underwent a prophylactic double mastectomy at age 31.

"For me, I just went in and did it," she said. "I didn't want to get cancer. Some people say it's a radical surgery. It's not radical. You're saving your life."

She estimated the mastectomy and related reconstruction surgery cost between $80,000 and $100,000. Insurance covered the surgeries.

Quasney was scheduled to have her ovaries removed but rescheduled the surgery for a later time. Looking back, she wishes she hadn't waited, but she doesn't beat herself up about it. Ovarian cancer, often called the silent killer, shows few signs and often spreads too quickly to catch in time for treatment.

She has continued to live life with her partner and their children. She is training for a sprint triathlon.

"You can't let this take over your life," she said.

Familial connection

The siblings' father died of pancreatic cancer. His mother died of ovarian cancer.

The familial connection started being pieced together when Sabol found a lump in her breast in 2001. A biopsy showed it was cancer.

At her first chemotherapy treatment, a doctor suggested genetic testing. After her fifth chemotherapy treatment, she learned she was a carrier of the BRCA1 gene mutation.

One by one, the siblings followed suit. All learned they are carriers.

Sabol said her decision to have the double mastectomy and oophorectomy was a "no-brainer."

The oldest of the sisters, she was done having children and knew it was right for her.

The situation was different for Amanda, one of the youngest.

She was 26 at the time, living city life as a single woman. She had no spouse or children when she learned she carried the gene mutation. She felt pressure to have the preventive surgeries.

"I wanted to take time with my decision," she said.

She kept a close eye on her health for the next several years. She got married, gave birth to two children and adopted a third. Four months after giving birth to her second child, she had an oophorectomy and hysterectomy.

"It's a very personal decision," she said.

Webb, who tested positive shortly after Sabol, went in for a prophylactic double mastectomy, and cancer was discovered. She underwent four rounds of chemo.  

"The decision for a prophylactic mastectomy saved my life," she said.

The sisters' biological children who are old enough to understand the gene have different perspectives. Some want to get tested right when they turn 18, while others want to wait until college is done so it does not serve as a distraction.

Empowering technology

Scientific advances have changed the landscape for women who want their ovaries removed but still want biological children, said Dr. Angeline Beltsos, medical director of Fertility Centers of Illinois - Highland Park IVF and a managing partner of Fertility Centers of Illinois.

"I have breast cancer gene patients who plan on removing their ovaries but have no partner," Beltsos said.

They remove and freeze their eggs for future use, then have their ovaries removed. Embryos can be tested for the gene mutation. Those that do not carry it can be transferred first for implantation, Beltsos said.

"The technology for freezing eggs is relatively new," Beltsos said. "It really changes the paradigm of how you can make decisions, and it's very empowering ... not let circumstances create your life's destiny."

Fertility treatment is a way to respond to life circumstances, such as an inherited disease, she said.

"They're kind of tortured by this ticking time bomb that they feel it's inevitable," she said. "It's like a spark in a gas station. This darn gene is waiting to go, 'Bam!' and it's too late. It'll happen right under your nose."

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