Trudy Orthey learned she had a BRCA2 gene mutation after a family member’s cancer diagnosis: Her sister Annie was diagnosed with breast cancer in 2013 and learned that she carried a BRCA2 gene mutation, which is inherited and increases an individual’s risk for certain cancers. At that time, the Basser Center for BRCA at Penn Medicine was newly launched and public awareness of BRCA mutations was limited. Still, Orthey quickly understood that Annie’s BRCA2 status meant she too could have inherited the mutation and a greater than average risk of developing breast, ovarian or pancreatic cancer.
Orthey decided to have genetic testing and counseling, which confirmed that she had a BRCA2 mutation. Although she quickly decided to have preventive surgery, she was focused on helping her sister through cancer treatment and put off scheduling her own procedures.
In June 2014, Orthey came to Penn Medicine for a prophylactic double mastectomy and oophorectomy. The eight-hour surgery removed her breasts and ovaries with the goal of preventing cancer in the future, so Orthey was surprised when the surgery ended up revealing she had ovarian cancer. She hadn’t noticed any symptoms, which is common. Early-stage ovarian cancer has been known as a “silent” disease due to symptoms either going unnoticed or attributed to other conditions.
Orthey had a second surgery the following month to stage the cancer so her doctors could determine the extent of disease and plan the best course of treatment. Fortunately, her cancer had not spread and was diagnosed as stage I, the earliest most easily treatable stage of ovarian cancer.
“My original motivation for the prophylactic surgeries was to avoid having to go through cancer and chemotherapy someday,” says Orthey. “But when the doctor explained that chemo would reduce the chance any single microscopic cells that might have escaped surgery could grow somewhere else, I knew it was worth it.”
Orthey began chemotherapy at Abramson Cancer Center in September 2014 and finished treatment in December 2014. Now, eight years later, she remains cancer-free and grateful for what she’s learned.
“I didn’t like going through chemo, but I wouldn’t change the experience,” Orthey says. “It really crystalized what’s important in my life and helped me make sure I don’t miss the things that are most important to me.”
This story is by Meagan Raeke. Read more at Penn Medicine News.
