At 28 years old, Amber Parcell had some life-changing decisions to make.
Was she ready to never have another child or was three enough? Was she willing to have her healthy breasts removed as a way to reduce her high risk of getting breast cancer that had claimed her sister?
Parcell had just found out she tested positive for the BRCA gene mutation, which meant her risk of getting breast cancer was as high as 85 percent and her chances of getting ovarian cancer were much higher, too. For some women, its as high as 65 percent, according to experts.
She hadnt wanted to get the test because shed been afraid of facing these decisions. But a month after burying her sister in February 2011, she realized she needed to find out.
Watching someone die slowly of cancer and not being able to do anything to help and having a family made it easier to decide to get tested, Parcell said.
Parcells sister, Belinda Burkhalter, was only 29 when in August 2009 she found out that a large cancerous mass had been growing in her breast. Parcell, then pregnant with her third child and having just found out her younger daughter was visually impaired, was in panic mode about her sisters stage 2 diagnosis and her own health. Her obstetrician/gynecologist, Dr. Sharon Breit of the Center for Womens Health, advised her to focus on her pregnancy and on raising her two daughters and supporting her sister. Testing for the gene mutation could wait.
There may be hundreds of other gene mutations that cause breast cancer, but the most recognized and the ones that can now be tested for are the BRCA1 and 2 genes, according to medical websites. Everyone has these genes, which provide instructions to cells on how to make proteins to repair damaged DNA.
Its actually pretty rare for someone to have the mutation, said a local breast surgeon.
Maybe 2 percent of the population has this mutation, said Dr. Patty Tenofsky, a breast care specialist with Via Christi Clinic. When it comes to breast cancer, about 10 percent of all breast cancer patients have the mutation.
About 65 percent of breast cancer is sporadic, meaning the patient has no family history for it. For 25 percent of patients, they do have a family connection but have tested negative for the gene mutation.
But for the women who test positive, their chances are dramatically increased for getting breast, ovarian and now researchers say even pancreatic cancer, Tenofsky said.
Testing for BRCA mutations started being offered in the early 2000s.
Breit, one of Parcells doctors, remembers being asked by a patient more than 10 years ago about the genetic test and having to do research on it.
Of all things medicine, its a relatively new test. Tenofsky said.
Both doctors say the test has gotten lots more attention since actress Angelina Jolie revealed earlier this year that she tested positive and opted to have a protective double mastectomy. Medically, its called a prophylactic mastectomy when one has healthy breast tissue removed. Jolies mother died of ovarian cancer and her aunt died of breast cancer, making her a prime candidate for testing.
Both physicians praised Jolie for sharing her story and helping women realize they can still be sexy even after having breasts removed.
It all goes back to when were little girls and we think about what makes us a women its our breasts, said Martha Pint, another Wichitan who tested positive for the mutation.
Pint, 49, also has a strong family history of breast cancer. Her grandfather died of the cancer, its one of three forms of cancer her dad has had, and her mother underwent treatment for it, too.
Her father, the closest living first-degree relative, underwent the testing first to see if he carried the mutated gene. He did. Pints daughter has also tested positive.
Like other women who test positive, Parcell and Pint were given these treatment options:
• Have frequent testing. Women who keep their healthy breasts will need mammograms and MRIs, alternating these tests every six months. We do this forever until we catch the cancer, Tenofsky said.
• Take tamoxifen, a drug that blocks estrogen activity. It can decrease the risk from 85 percent to 45 percent in breast cancer, Tenofsky said.
• Undergo a double mastectomy. Tenofsky said about half the patients she sees with the positive gene mutation choose this option while the other half choose frequent testing.
• Undergo a complete hysterectomy, known in medical jargon as a prophylactic oophorectomy, to lower the risk of ovarian cancer. This is usually recommended when a woman has decided she will no longer bear children.
While Parcell and Pint both faced the same options, they made different decisions.
For Parcell, the decision was overwhelming, she said. At first I wasnt going to do anything. I figured if Id develop breast cancer Id take it from there. Then I realized that that was selfish. I was married, I had a family and I just lost a sister to breast cancer.
After much research and many discussions with various doctors, she choose the protective procedures of a double mastectomy and a complete hysterectomy. In October 2011, just a few months after her sisters funeral, she had all her breast tissue removed and tissue expanders inserted to prepare for reconstructive breast surgery. Her pathology report showed some abnormal cells.
In May 2012, she received implants and had a hysterectomy.
I felt I had the opportunity and all the information to make a difference in my life. I felt it was the responsible, unselfish thing to do, said Parcell, a stay-at-home mom with children ages 10, 6, and 3. When her mom questioned her decision to have healthy body parts removed, she asked her to join her in her research and doctors visits. When her mom realized the risk Parcell faced, she got on board.
That made a huge difference to have family support.
The decision to have a complete hysterectomy was easiest for Pint, a mother of five, to make.
I just cant wrap my head around getting my breasts removed when I dont have cancer, said Pint, an investigator with the U.S. Department of Labor. Its not an option shes totally discounted, however.
Shes opted for frequent testing, willing to endure an MRI despite her severe case of claustrophobia. Like Parcell, its a decision she can make because of family support. Her husband holds her hand when she undergoes MRI testing she tears up as she says she doubts she could bear them without him there.
Its a huge deal to make the decisions, said Breit, noting that every womans choice will be different depending on their experience and circumstances. The good thing is both (Parcell and Pint) have decided to prolong their lives.