Genetic testing helps guide Maria's cancer treatment

“I had no blatant symptoms, and I had no idea anything was wrong with me,” Pulera said. “I am insanely busy as a single mother of a 10-year-old and a 11-year-old, as well as the CEO of a tech company overseas. Suffice to say, I did not think twice of my exhaustion.”

Genetic testing revealed Pulera was born with a mutation in her BRCA1 gene, putting her at higher risk for not only developing ovarian cancer but other cancers as well.

Undergoing treatment

At the time Pulera was diagnosed, the cancer had already spread extensively throughout her abdomen. To increase the chances of a successful surgery, Dr. Janelle Sobecki, a gynecologic oncologist at Carbone Cancer Center and medical director of the Women's Integrative Sexual Health program, recommended three rounds of chemotherapy prior to surgery to help increase the chances of the complete removal of her cancer.

“It was very difficult during the first week after chemo,” Pulera said. “There were times when Elki, my little Pomeranian dog, was walking faster than I could.”

The strategy worked. Following chemotherapy, Pulera underwent surgery to rid her of cancer, including a complete hysterectomy, removal of her ovaries and resection of the remaining cancer throughout her abdomen. After completing three additional rounds of the same chemotherapy regimen, Pulera had no evidence of cancer and was in remission.

The BRCA (abbreviated from breast cancer) genes normally play a role in repairing DNA breaks and aiding healthy cell growth. For men and women born with an altered BRCA 1 or 2 gene, the DNA repair function does not work properly, so they are at higher risk of developing certain cancers, including breast, prostate and ovarian cancers. Genetic testing can be helpful for patients to assess their cancer risks.

Because Pulera has a BRCA 1 mutation, she was a candidate for a targeted maintenance medication called a PARP inhibitor. This oral medication helps prolong remission and prevent recurrence in those with ovarian cancer. PARP is a protein found in human cells that helps repair damaged cells. In those with cancer, blocking the PARP protein prevents cancer cells from repairing their damaged DNA, which causes cancer cells to die. It is highly effective in those with BRCA mutations such as Pulera.

“When we evaluate patients with ovarian cancer to determine who benefits the most from PARP maintenance therapy after chemotherapy, those with BRCA mutations benefit tremendously from PARP treatment,” Sobecki said.

Resilience

Pulera has been in remission for over a year now and continues her PARP inhibitor maintenance treatment. She credits her team at Carbone Cancer Center for giving her strength and encouragement to get through her treatment.

“Dr. Sobecki saved my life with her knowledge and skill, but she also gave her heart and her warmth,” Pulera said. “The nursing team was supportive, patient and encouraging. The vulnerability I felt as a single mother with full blown cancer was tremendous, but I was blessed to have (Sobecki) and the team answer all my questions and concerns.”

Sobecki commends Pulera’s resilience.

“Like most patients with a BRCA mutation, Maria was diagnosed with ovarian cancer at a younger age than average,” Sobecki said. “Despite her life-altering diagnosis, Maria approached her treatment with a tremendous amount of grace and strength. Throughout her treatments, she continued to travel internationally as a CEO and is a highly involved single mother of two young sons. She is a remarkable woman.”

Pulera encourages everyone to pay attention to their health and remain hopeful if they find themselves in the same situation she had faced.

“I think women are aware about breast and cervical cancer, but the other female cancers like ovarian are important to know about as well,” Pulera said. “Cancer treatment has advanced significantly over the years, and I encourage those who are in treatment to maintain positivity and reach out (for support).”