Breast Cancer Survivor Stresses That Genetic Testing Gives Vital Knowledge About Cancer Risk

For Kaye Gonel, being a cancer survivor isn't enough.

A 34-year-old Jonesborough resident diagnosed with breast cancer earlier this year, Gonel is now on her way to a cancer-free future. She also wants to be first in a long line of women whose lives have been positively impacted by genetic testing from the Wellmont Cancer Institute.

“Cancer is scary. Cancer can turn your life upside down,” Gonel said. “But being informed and knowing what you can do can make all the difference in the world."

Two aunts on her father's side, one diagnosed at 40 and the other at 43, were cancer survivors, and that indicated her cancer could be genetically based. Once tested at the cancer institute, it was confirmed. Gonel carried the BRCA2 5301insA gene mutation, which increased her likelihood of developing breast cancer by 87 percent.

While this information could not eliminate Gonel’s current cancer, she knew it could benefit the rest of her family. She began to spread the word.

“I have three sisters,” she said. “And it was very important to me that they had the opportunity I did not.

“If you are blindsided, you have no prep time. Anybody who wants to succeed or to survive needs to be informed.”

Fortunately, Gonel's response to genetic testing is becoming more and more common, said Debbie Pencarinha, a genetic counselor with the cancer institute.

"This testing is one of the best tools we have for breast cancer prevention and early detection when a woman has a strong family history,” said Pencarinha, the only board-certified and licensed genetic counselor in Northeast Tennessee. “I think that people are finally starting to understand that knowledge is power.”

Through genetic counseling and testing, patients now have the opportunity to either prevent cancer or catch it in an earlier, more treatable stage.

“Kaye has two aunts diagnosed in their forties,” Pencarinha said. “If someone had been tested earlier, it could have been different for Kaye.”

Genetic counseling and testing are recommended for women with two first- or second-degree relatives diagnosed with cancer, one of whom was diagnosed before the age of 50. An initial counseling session helps establish whether genetic testing is recommended. If testing uncovers a gene mutation, further consultation can help establish the best form of treatment.

“We now have 16 different genes in BRCA1 and 2 that we can detect,” Pencarinha said. Each gene has its cancer risk associated with it, from 25 to 87 percent, and each may call for a different response from the patient. But Pencarinha believes each provides a better chance for women who could be facing breast cancer in the future.

“Some people say they don't want to know,” she said. “But if you can prevent cancer for you and your family, why wouldn't you?”

A little more than eight months ago, Gonel saw herself as a happy, healthy mother of a beautiful little girl and wife to a loving husband. She recalled she and her daughter were on a play date at a local McDonald's when she felt a sharp pain in her left breast. The pain didn't go away, and as soon as she returned home, she went into the bathroom to examine her breast.

“I placed my hand right on the tumor itself, and I screamed,” Gonel said. It wasn't the pain that caused her reaction but the sheer terror of what she was certain she was about to face.

She said she knew “young women can die of breast cancer.”

Gonel was at her doctor's office the next day and then was quickly scheduled for an ultrasound on Feb. 13. A biopsy immediately followed. Results were expected back on Feb. 15.

"That Valentine's Day was the longest day of my life," Gonel said. "Forget about chocolates or flowers. I wanted to know if I would live."

At the doctor's office the next day, Gonel was told, "Yes, you do have cancer."

“Everything stood still. I was sure they had the wrong person," she said. “I asked, ‘Me? Kaye Gonel has cancer?’”

What followed was a roller coaster of treatments, exhaustion, what ifs and occasional moments of panic.

“Cancer affects everything in your life. It changes everything about you. And it's very real,” Gonel said. “Chemo is real. Losing your hair is real. Losing your eyelashes and eyebrows is real.”

Today, Gonel is back to being a happy mother and wife, but her mission has changed. She wants people to let go of the fear and embrace the value of genetic testing.

“If I had known, things would definitely have been different,” Gonel said.

Sure, she admitted, finding out you have a breast cancer gene mutation can be scary, but you would then have the opportunity to re-establish control by opting for appropriate drug therapies, increased monitoring and preventive exams or even a mastectomy prior to diagnosis, depending on the risk factors.

 “For me, finding out I had the cancer gene would have been one day of being scared rather than being scared your whole life,” said Gonel, who still faces a final bout of radiation therapy before her treatment is complete. As for the option of a prophylactic mastectomy, Gonel is very matter-of-fact about the whole idea.

“I honestly don't understand those ‘Save the ta-tas’ bumper stickers,” she said. “Forget the ta-tas. Save your life.”

To schedule an appointment for genetic counseling, please call 423-578-8525. Office visits are available in Johnson City and Kingsport.