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 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
“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
"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.”
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
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.
For more information, please visit www.wellmont.org.