So Shelby decided to get genetic testing at her friend’s practice to find out if she held any of these genes. After an agonizing wait, Shelby ultimately learned that she’d tested positive for PALB2 and CHEK2 variants, both of which put her at increased risk for developing breast cancer and pancreatic cancer (although the risk for the latter is smaller). According to one study, those with the PALB2 mutation have a 14 percent chance of developing breast cancer by age 50 and a 35 percent of developing it by 70. Meanwhile, those with CHEK2 are four to six times as likely to be diagnosed with breast cancer in their lifetime than the average woman, according to research.
“I was in total shock,” says Shelby. “I worked from home at the time, and I was thinking, ‘Why is she calling me during the day? This isn’t good.’ I could tell she had coached herself on how she was communicating. And so she went through her long spiel, and she was trying to stay positive that this was not the worst result, that my risk percentages at this time were considered lower than the other two BRCA genes, and that it could be worse.”
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Her dad felt responsible: He had most likely passed those genes on to his daughter. “It was the saddest thing to talk to him about it, because he was a surgeon,” says Shelby. “All of my life when someone was sick, I’d say, ‘Dad, are they going to die?’ He’d say, ‘Everybody dies some time, Shelby.’ He was matter-of-fact like that. But I remember we were in the car after getting my results, and he said, ‘I’m so sorry I gave this to you.’”
Shelby says she cried after getting her test results but then started scheduling doctor’s visits right away. She opted to have an elective prophylactic double mastectomy. “My dad said it best,” she says. “He said, ‘This isn’t a difficult surgery, Shelby. It’s a straightforward surgery, but it’s an emotional surgery. You really need to be compatible with your surgeon.’ I went in with that mentality.”
A month before her father died in June 2015, Shelby had the surgery. “I’d planned on doing the surgery after my dad passed because I wanted to focus on being happy and healthy while he was here,” says Shelby. “But then my mom was diagnosed with breast cancer, and I was like, ‘Well, f*ck this.’ So I went in and saw my surgeon, and we scheduled the surgery. My dad went on the decline about the same time.”
Shelby remembers feeling guilty about having the surgery then. “But I think it provided him peace in the end,” she says. “Like, ‘OK, she’s taken care of, she did the right thing.’ He came in for my surgery, but he was so sick that he left the hospital when the first general surgeon came out to say that the tissue was removed. He didn’t wait.”
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After Shelby’s mastectomy, she opted for immediate reconstructive surgery. Now, she’s staying on top of her health with regular screenings. She has a magnetic resonance cholangiopancreatography every three to five years, which she describes as an MRI of your neck to your hips, focusing especially on the pancreas.
If the doctors see anything on her pancreas, Shelby could consider undergoing something called the Whipple procedure. According to the Pancreatic Cancer Action Network, during this surgery, the doctor removes the head of the pancreas, the gallbladder, the uppermost portion of the small intestine, a small portion of the stomach, and the lymph nodes near the head of the pancreas. The surgeon then reconnects the pancreas to the other digestive organs. Post-procedure, pancreatic enzymes, bile, and stomach contents will flow into the small intestine during the digestion process.
“Removing the pancreas isn’t the best option, because you’re instantly a diabetic, and your quality of life is extremely different,” says Shelby. “So I screen, without knowing what we would do if I found something.”
But sometimes just knowing if your risk is high or low can help you navigate what comes next. “Cancer is always a fear for all of us,” says Shelby. “I got to significantly free from myself from that risk, and part of me feels fortunate for knowing that.”
This is the first in a series of three WomensHealthMag.com articles created in partnership with Bright Pink, a national non-profit organization focused on prevention and early detection of breast and ovarian cancer in young women. The series marks the launch of Explore Your Genetics, a resource from Bright Pink to help women understand everything there is to know about genetic testing.