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Gene BRCA1: Three sisters go in for mastectomies
Cancer is at once non-discriminating and calculatingly vindictive, especially in the eyes of victims who have watched the disease wickedly morph from miraculous remission into a metastasized death warrant.
Richie Meche of Oak Harbor is a cancer survivor four times over. Her three daughters are cancer previvors, members of a new generation that - armed with knowledge of their specific genetic mutations - are sidestepping the fatal disease with increasing success.
But avoidance requires drastic, life-changing measures.
Stephanie, whose married surname is Cone, and her sisters Terri and Kim will head south Monday, not to get a jump on Christmas shopping, but to check in to the University of Washington Medical Center for elective and preventative mastectomies.
The cancer culprit
Richie and her progeny have all tested positive for BRCA1, an inherited mutated gene that places them at a high risk for breast and ovarian cancers. The persevering mother has battled breast cancer twice and the latter reproductive strain once. Colorectal cancer also makes an appearance in her diversified medical portfolio.
None of my cancers have been related, she said. Theyve all been different.
About every five years, said Bill, Richies husband, of the terrifyingly short dormancy periods.
Growing up, the killer that took Richies grandmother, mother and all but one of her mothers eight siblings, remained faceless and struck without leaving a calling card. And to further conceal its modus operandi, the gene was not targeting women exclusively.
My moms brother died of liver cancer, she said. And they all died quite young, before they were 50.
When Richie was diagnosed with ovarian cancer 15 years ago, the doctors focus extended to the next generation of Meches.
They recommended that we have hysterectomies once we were through having children, Stephanie said. Regardless of the genetic link, it was obvious to everybody that we had a strong family history of ovarian cancer and we needed to avoid it.
Years later when Richie stepped into the ring with breast cancer for the first time, the physicians referred the family to a genetic counselor.
At that time, they had discovered the gene, but testing for it was not routine yet, nor were we sure of the ramifications from our insurance, and we really werent even sure we wanted to know, Stephanie said.
A link to the past
The specialized form of counseling ultimately helped raise the right questions for doctors. The questions later began to turn into answers.
Our genetic counselor helped analyze our entire family tree, Richie said. With my cancer, especially the second time, the doctors really started questioning. Because of my history they highly suspected something was wrong.
A genetic test developed by Dr. Mary Claire King, now at the University of Washington, confirmed the doctors fears that Richie had the gene.
Terri and Stephanie opted to have hysterectomies following Richies ovarian cancer scare. At that time, none of the sisters had undergone genetic testing.
Kim was about to get the surgery and she hadnt had the test done, so the genetics counselor told her to wait until she was certain she had the gene, Stephanie remembered.
As it turned out, Kim not only had BRCA1, but when she went in to have her ovaries removed, doctors discovered cancer in her fallopian tubes. Fortunately, they were able to successfully remove the malignant matter.
They suspected it was the beginning of the ovarian cancer that our family gets, Stephanie said.
A hysterectomy reportedly reduces the risk of ovarian cancer by 50 to 80 percent, according to the Web site breastcancer.org, and lessens the risk of breast cancer by 50 to 70 percent. The statistics vary, depending on the study.
As a result of the testing, Richie and her daughters now have access to constant surveillance by pioneers in the field. Insurance providers, whose collective stance on genetic testing and counseling was initially unclear, have since become cooperative, easing the financial burden as patients literally fight the odds for a chance at some semblance of longevity.
We thought we had a high risk because of our family history, Stephanie said. Now there is proof we are in a high risk category because we have the gene.
Rolling the dice
People with the genetic mutation have a 50 percent chance of passing it on to their offspring. In the case of Richies family, the house had the clear advantage.
Each of us had a 50/50 chance and each of us had it, Terri said. Our kids now have that chance.
Stephanie and Terri have five children between them, but the genetic counselor has suggested holding off on testing for the gene until they are at least 25.
My girls are teenagers and they dont need to feel different, Stephanie said. And when youre at courtship age, is that something that you need to be discussing? Had it not been for genetic counseling, this insight would not have been brought to our attention.
About 10 percent of all breast cancers are associated with an inherited genetic abnormality, according to breastcancer.org. And the most common genetic abnormalities involve BRCA1 and BRCA2. Researchers have identified more than 600 mutations in the BRCA1 gene, many of which are associated with an increased risk of cancer, not just breast cancer.
Stephanie and Terri, both of Oak Harbor, and Kim, of Vancouver, Wash., have cast aside vanity in preparation for the Dec. 3 mastectomies. After her second bout with breast cancer, Richie underwent the procedure almost a year ago to the day of her daughters scheduled surgeries.
Are you getting a three-for-one deal? Bill asked the daughters with a laugh.
We should at least get free parking, Stephanie said.
As a seasoned cancer veteran, a designation Richie would gladly trade, the mother is far more comfortable going under the knife herself than sitting calmly as she waits for her daughters to have their lives significantly altered for the second time.
I dont like being on that other end, she said.
This is only the second time shes had that waiting room experience, Stephanie agreed.
The three women will emerge from the medical center together, having undergone another major operation that will punctuate this chapter of their respective lives.
The length of the surgery is dependent on whether the patient chooses breast implants, prosthetics or tissue transfer reconstruction.
Different people are different candidates and its all about personal choice, Stephanie said.
Mastectomies for women with BRCA1 can reportedly reduce the risk of breast cancer by 85 to 90 percent.
The Oak Harbor familys unique genetic makeup first became news last year when Kim was going through her cancer treatment. KING 5 news did a special segment on the women that continues to generate phone calls each time it is replayed.
People always call and say, We saw you on TV last night, Terri said. And weve been told by some that they called their doctor because of it, knowing their family history. That makes it all worthwhile.
Robin Bennett, the UW genetic counselor who has taken the journey with Richie and the sisters, provided contact information to the National Society of Genetic Counselors. Stephanie has been corresponding with the organizations publicist since February.
Shes talking to producers and reporters about our story, she said of the publicist. Robins goal is to raise awareness about genetic counseling and weve really learned through this experience too that people dont always go that route, as shocking as that seems to us.
The New York Times and ABCs 20/20 have both expressed interest in pursuing the story, but NBC ultimately took the first national plunge. A producer and camera crew will be in Oak Harbor this weekend to interview the courageous women as they ready themselves for surgery. The end product will be aired on the Today Show.
A health reporter from the Wall Street Journal has also been working on an extensive, possibly front page story about genetic testing that may reference the familys experiences or include quotes.
Stephanie is holding out for Oprah, but not for the reason one might think.
People laugh about that, but she has the best audience for this, she said.
The siblings chose to undergo surgery on the same day to help build awareness for genetic counseling and genetic testing and show the difference they can make when employed in conjuction.
If their story can be properly told and nudge even one potential previvor in the right, potentially life-saving direction, they see their mission as accomplished.
Our desire is to encourage people to seek genetic testing, but also with genetic counseling, Richie said. It can make all the difference.
The KING 5 news special can be viewed at www.king5.com by searching for Meche cancer. A tool for locating a genetic counselor is available at www.nsgc.org by clicking on Find a Counselor.