Simple test helps identify cancer risk in patients

NEW ORLEANS — Cancer doctors say there is a genetic test that can save the lives of both men and women, but too few patients and doctors are taking advantage of it.

Now a family is speaking out to let others know its decision to be tested, changed its future.

Members of the Cantrell family grew up seeing breast cancer at an early age.

“Our mother was diagnosed with breast cancer at the age of 56 and our oldest sister was 36 and her daughter was 26, so we knew there was something about this cancer that was running in the family,” said Pam Crimmins, a 60-year-old Ponchatoula resident.

And for a while, fear of the future and what it would bring brought them a great deal of worry and stress.

“Every time it was time to get a mammogram, I was deathly afraid. I had to have someone go with me,” said Deedee King, a 53-year-old Madisonville resident who is Crimmins’ younger sister.

The five sisters and one brother had heard about genetic testing, but at the time, insurance didn’t pay and they could not afford the test. But when insurance companies changed their policies, four of the six siblings and several of their children, the next generation, decided it was time.

“So 12 of the family members were tested and unfortunately seven of us were positive,” said Crimmins.

Dr. Alan Stolier is a surgical oncologist who specializes in breast cancer, and he says that now patients no longer need to have a blood test to see if they have a mutation in the one of the two genes that increase the risk for breast cancer. Now the test is simple, nothing more than swishing around and gargling with a little mouth wash and then sending that to the lab.

The cells that come from inside of the cheek, known as the buccal area, can give pathologists all the DNA they need to see if a person inherited a mutation in the BRCA1 or BRCA2 gene. He said the knowledge that you have the mutation can be powerful and lifesaving, and even help pinpoint what treatment you need if you get cancer.

“But most importantly, they tend to occur at an earlier age and with greater frequency. For instance, patients who develop a cancer are potentially up to, have a risk of up to 60 percent of developing a second cancer. So that’s the big issue. It’s not only is their risk very high, in the 80s, 80 plus percent of developing a breast cancer, but their risk of a second cancer is very high,” said Stolier, who is on staff at Omega Hospital in Metairie and a Tulane Clinical professor.

What’s more important, is that women not only have a higher risk of early onset and more than one cancer, but ovarian cancer as well, that is often found in an advanced stage. Family members who are men should be tested too.

“Men who test positive are not only at an increased risk of getting breast cancer, but they are also at an increased risk of prostate cancer, and so you can adjust your screening recommendations specifically to those men,” Stolier said.

The three sisters believe they have changed their lives. Two who were positive, had their uteruses, ovaries and the insides of their breasts removed. They were able to save the complete outsides of their breasts and replace the inside with fat from the abdomen after a tummy tuck, so their new breasts look completely natural and their risk of getting cancer is significantly decreased.

“Being an oncology nurse, I knew that I did not want to go through chemo or get breast cancer, so it was a real easy decision for me,” said another sister, Susie Stoulig, a 57-year-old Hammond resident, about having the preventive surgery.

“Both of my daughters have twins, eight weeks apart, so I felt like I needed to do everything in my power to be here to see these babies grow up,” said Crimmins.

King was negative, and nursed her sisters back to health in her home after each of them had the preventive surgery a year ago.

“I don’t have to wake up every day, and I mean I was obsessed with it, and it changed my life. I’m happy it’s made us grow a lot, I mean we were close already but sharing all of this has just changed us and made us closer,” said King.

Since the next generation has not had children yet, they are not having hysterectomies at this time. They will get regular tests and monitoring for now. But this family is sharing its story because the sisters not only know the fear in making the decision to have the test, but they know the relief in making health decisions while they are well and not facing a life threatening illness.

Most insurance companies now pay 90 percent of the cost of the $3,200 test. Stolier said patients do not have to worry about privacy or discrimination issues with having the test. Patients who test positive and don’t want preventive surgery, also have the option of taking medication to lower their risk of getting cancer.

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