Chester County, Pa. resident Trudy Orthey often thinks about all of the milestones she could have missed if her cancer wasn’t discovered early: her children’s graduations, weddings and the birth of her first granddaughter, to name few.
“Learning I carry a BRCA2 gene mutation and having surgery saved my life,” said Orthey. “I am constantly grateful.”
Family Cancer Diagnosis Leads to Genetic Testing for BRCA
Trudy Orthey
Like many others, 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.
Treatment for Stage I Ovarian Cancer
Although Orthey’s doctors confirmed that her surgeries had removed all visible signs of cancer, they still recommended chemotherapy.
“My original motivation for the prophylactic surgeries was to avoid having to go through cancer and chemotherapy someday,” said 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. (Annie also survived her breast cancer and remains a close source of support.)
“I didn’t like going through chemo, but I wouldn’t change the experience,” Orthey said. “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.”
Since retiring from her job as a high school family and consumer science teacher, Orthey has found more time to spend helping her family and others in need, through her work as a deacon in her church.
Advice for Newly Diagnosed Patients
Orthey’s advice for other newly diagnosed cancer patients, especially those with a BRCA mutation, is to educate yourself about your options: “Connect with support groups or other people who have been through this and make your decisions that feel right to you. Know that it’s OK to change your decisions as you go along too. You can shift your plans.”
She continues to return to Penn Medicine once a year for follow-up appointments with Susan Domchek, MD, executive director of the Basser Center for BRCA. The Basser Center was established as the world’s first comprehensive center for the research, treatment, and prevention of BRCA-related cancers. Recently, the Basser Center received a gift to establish the Basser Cancer Interception Institute, which will support research to target and “intercept” abnormal BRCA1/2 cells at their earliest stages, before they grow into cancer that requires surgery or other treatment.
“As Trudy’s experience shows, raising awareness is can make an incredible difference in the lives of those affected by a BRCA mutation,” Domchek said. “In the future, we hope to make an even bigger impact on families living with BRCA mutations by innovating new methods to detect and stop cancer as early as possible.”
Basser also provides resources to help patients like Orthey navigate their diagnosis and understand the options available for those with a family history of BRCA gene mutations. The Basser team is working to expand access and break down barriers to genetic counseling and testing to ensure that all communities have lifesaving information about their health.
“I didn’t know about BRCA at all before my sister’s diagnosis — it was a total learning curve,” Orthey said. “If you know that your family carries this gene mutation, don’t be afraid to talk about it. I did and it saved my life. It also has a ripple effect to your family and future generations.”
Get BRCA Answers
Think you or someone you love might carry a BRCA mutation? Genetic counseling and testing is recommended for individuals whose family and personal health histories point to an increased chance of a cancer gene mutation. To learn if you may be a candidate for genetic testing, take the BRCA risk factor quiz.