One genetic test transforms a life – Arkansas Online

En route to Dallas and just an hour out of Arkansas, Lesley Murphy got a call.

She had been tested about a week before for a genetic mutation that would make her more susceptible to breast and ovarian cancer. And, as it turned out, she had the mutation.

She didn't have either cancer, but, at 29, she found herself weighing her options: go in every six months for screenings, take medicine or undergo a preventive double mastectomy. She had some three hours to go to get to Dallas, where, coincidentally, she had an appointment with her gynecologist.

"I spent a lot of that -- probably at least an hour and a half -- telling nobody," Murphy said. "I was like listening to music and just thinking."

Studies have found that more women are choosing preventive mastectomies. Actress Angelina Jolie drew attention to the procedure in 2013 when she had a mastectomy after learning of her susceptibility to breast and ovarian cancer. The studies vary in the rates of women undergoing the surgical procedure, but most show percentages now in the low teens compared with the 2 percent to 4 percent range in the late 1990s and early 2000s.

Mastectomies can reduce breast cancer recurrence to 1 percent, said Dr. Daniela Ochoa, a breast surgical oncologist at the University of Arkansas for Medical Sciences, Little Rock.

"We take out all the breast tissue that we can see and identify grossly and anatomically with our eyeballs, but we can't say that at a teeny tiny cell level, we got every cell," she said. "So that's why we can't completely eliminate the possibility that there may be something down the road, but it's certainly the most aggressive thing that you could do to decrease your risk."

Murphy's test results came nearly three years after her mother, Martha Murphy, was diagnosed with breast cancer. An unlikely candidate, Martha Murphy had no cancers in her family history, was healthy, exercised regularly, ate well. Unable to come to terms with the diagnosis, she eventually got a genetic test -- the first in her family -- showing she, too, had the genetic mutation, called BRCA-2, predisposing her to breast and ovarian cancers.

In short order, Martha Murphy opted for a double mastectomy, a reconstruction and later an oophorectomy, the removal of the ovaries.

Her two other daughters took a genetic test later that year: one had the mutation, the other didn't. Lesley Murphy would be the tiebreaker.

Bachelor, Argentina

A Fort Smith native, Lesley Murphy graduated from the University of Georgia and worked in Atlanta and Washington, D.C. In the nation's capital, she took a hiatus from her job at a Democratic consulting firm to compete with 25 other women on ABC's show The Bachelor. She didn't find love on the show.

But after the television stint, Lesley Murphy moved to Argentina with her boyfriend at the time and worked as a marketing manager for a luxury hospitality company. She had been thinking of ways to take advantage of her following -- she has 66,284 followers on Twitter, 224,000 on Instagram and 7,652 on Facebook -- from the show, and nothing had come together, she said.

She spent her time there traveling throughout South America, documenting her travels along the way. She decided to trade in her job to be a professional travel blogger, living out of a suitcase -- albeit, a large one.

On March 10, 2014, Lesley Murphy was in her Argentina apartment when her mom and dad called, breaking the news of Martha Murphy's diagnosis.

The parents reassured their three daughters that Martha Murphy found the tumor early and all would be OK. She had consulted two doctors, both of whom had recommended surgery to remove the tumor and 30 rounds of radiation. One of the doctors, an oncologist and family friend, also had recommended a genetic test.

For Martha Murphy, finding the genetic mutation was like finding a needle in a haystack, said Dr. Kent McKelvey, the director of Adult and Cancer Genetics Services at UAMS.

"It would be like, you know, you're sitting in the cancer institute, and there's a lot of rooms in the cancer institute," he said. "You know in one of the rooms, there's the needle that you're looking for. In her mom, we looked through every room, and we found where the needle was."

Martha Murphy tested positive for the BRCA-2 gene mutation.

Days later, with two months until her oldest daughter's wedding, she had a double mastectomy at UAMS. By the May 31, 2014, wedding, she was on the dance floor.

hereditary risk

If an average woman has an 11 percent risk of breast cancer, those with BRCA-1 may have up to eight times the risk, and those with BRCA-2 have about four or five times the risk, McKelvey said.

Cancer occurs because of changes in DNA, which happen because of bad luck, environmental exposures or heredity, said McKelvey, also an associate professor in UAMS' College of Medicine. Most patients get it because of a combination of bad luck and environmental exposures, including hormone-replacement therapies for post-menopausal symptoms and lifestyle choices, such as not eating well, said Ochoa, the breast surgeon.

In Lesley Murphy's case, the major risk factor was hereditary, McKelvey said.

Genetic tests -- like those the Murphys took -- have increased over the years: just over 1,000 tests were ordered in 2012, and now the number is closer to 50,000 a year, according to the Genetic Testing Registry. Some companies are now offering genetic tests for a slew of predispositions, though McKelvey had a warning.

"You don't just order a genetic test because there are implications for you, for your future health care and for your family," he said. "People need to know what they're getting. I'd say it's important to have pre-test counseling and post-test counseling."

UAMS is the only health care facility that offers cancer genetics in the state -- hundreds of genes are predisposed to about 50 cancer syndromes, he said -- and McKelvey's office includes genetic counseling. One of his genetic counselors called Lesley Murphy on her drive to Dallas in mid-February this year, confirming the gene mutation and setting another appointment with McKelvey nearly two months later.

Hers had been an easier find because they knew what to test for and where to find it, McKelvey said.

Thinking over her options, Lesley Murphy ruled out the regular screenings -- getting a breast MRI every six months and a mammogram every six months -- almost immediately.

She figured she could have the procedure done at any time. But once she got to her gynecologist's appointment in Dallas, the doctor said, "You do not have to do this, but in my mind, what's the point of hanging on to something that's potentially very cancerous?"

Lesley Murphy thought it over for a few more days: she would be gone all of March for work, and the gynecologist was right. She called McKelvey's office to schedule an earlier appointment. Afterward, she marked April 11 as the date for her first-ever surgery.

She spent March traveling to Colorado, the United Kingdom, Finland and Canada. She worked out and did yoga.

On March 8 -- International Women's Day -- on "a horrid eight-hour layover in Germany," she shared with the world her genetic test results.

"I wanted to be a voice for other people who were going through the same thing," she said," even just thinking about it or even just starting the conversation for families or a friend to get tested."

She prepared herself mentally, and before she knew it, it was April 11.

"I remember going to sleep that night and getting pretty sentimental because it was my last night with the old me," she said, "and the next day was going to be completely different."

3-month process

The procedure takes out the breast tissue down to the pectoral muscle, said Ochoa, the breast surgeon and assistant professor in UAMS' College of Medicine. Expanders and implants go underneath the muscle, and some -- if not all -- of the skin is saved for the reconstruction, a three-month process, she said.

"So when you wake up after the first surgery, it's not your final outcome and your final volume. It's not completely flat in what we otherwise would have without a reconstruction," Ochoa said. "They gradually fill up the expander, get up to the size that you're ultimately shooting for, and then there's a second surgery where they come in, switch out the expander to the permanent implant. The permanent implant is when you pick whether you want saline or silicone, kind of what size you're shooting for."

At UAMS, surgeons perform preventive mastectomies, but more often than not, patients find out they have the BRCA gene once they have already been diagnosed with breast cancer, Ochoa said. She added that most cancer patients end up with the disease because of either bad luck or environmental factors, not for hereditary reasons.

Lesley Murphy woke up around 3 p.m. April 11, after some seven hours in surgery. She vividly remembered -- "how could I forget the feeling" -- first feeling pain when she was moved from one bed to another.

"Realization set in on what road was ahead," she said. "I remember my dad was driving me home from the hospital the day after surgery, and I was so nervous because even in the wheelchair from my hospital room to [the first floor], every little crack you would go over, you would feel it."

Her mom, who had been by her side through all the doctor appointments, slept by her side for the first couple of nights. She couldn't sit up in bed or easily get up to use the bathroom. She needed help getting dressed in the mornings. She didn't like being in the same position for too long.

But, day by day, she started to feel more normal.

By May 6, she was lying on her stomach, spending time in the sun and working out, though, she said, she may have cheated on the last one by a bit.

And on May 11 -- a month after her surgery -- she posted on social media a thank-you note to her supporters, who she said helped ease her recovery, and wrote that she hoped she has helped others in a similar situation.

"Knowledge really is power," she said in an earlier interview. "It's been a wash of emotions, but I think this is a story of empowerment."

Metro on 05/28/2017

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One genetic test transforms a life - Arkansas Online