‘A warrior’: Cancer survivor hopes more women get genetic tests

‘A warrior’: Woman now cancer free after following new guidelines for genetic testing

RICHMOND, Va. (WWBT) - A new recommendation could help women fighting breast cancer and help make sure their children know their risks.

The federal guidelines now suggest gene testing for survivors of breast and ovarian cancers. The U.S. Preventative Services Task Force also suggests genetic testing for women who’s ancestry makes them more likely to inherit gene mutations.

For years, the Jo Pena everyone knew had long, brown, curly hair.

“I’m at work and they point and say, ‘Just look for the Spanish girl with the big curly hair,” said Pena.

She doesn’t recognize that person anymore.

“It was hard to look in the mirror and see somebody different,” she said.

Her hair is growing back after chemo, but it’s much shorter now.

When Pena looks in the mirror, “I see somebody who battled."

It started with a small bump in her left breast. She thought it was a cyst.

But Pena’s not one to sit on a problem. She’s a criminal defense investigator at the public defender’s office in Petersburg.

The mom of two had her annual mammogram and while it came back clear, her gynecologist was still concerned.

“She felt it too and she said let’s go ahead and get an ultra sound and biopsy,” said Pena.

She had no history of breast cancer in her family, but, she says "my mom died of colon cancer when I was 10, so, I’ve been very religious about all of my doctor’s appointments.”

At this appointment, she got the news every woman dreads. It was breast cancer.

“I held it together. I hit the elevator and got to my car and lost it. I called my best friend of 25 years and just lost it in the car,” said Pena.

An MRI ended up showing not only cancer in her left breast, but more in her right.

And because of new guidelines, her surgeon also ordered a genetic test.

She tested positive for the Ataxia-Telangiesctasia mutated gene or “ATM gene mutation" as its more commonly known.

“I had no idea what that was. You hear about the BRCA gene. You hear about the her2 gene,” said Pena.

“The ATM gene mutation means you’re at four times the risk, which is much less than BRCA gene mutation to have breast cancer. The men who have the ATM gene mutation are at risk for prostate cancer. And there’s an elevated risk for pancreatic cancer," said Dr. Diana Cox, Pena’s breast surgeon at Johnston Willis Hospital.

“When Jo went through this in 2018, the only thing that she met criteria for in order to test for genetics was her age. If she had been 52, we wouldn’t have even tested it,” added Cox.

But starting this year new recommendations came out.

Cox says every woman who has a new diagnosis of breast cancer should be offered genetic testing.

Pena was actually offered testing 10 years ago, long before her diagnosis, but her insurance wouldn’t pay for it.

“I wish that I had known enough to say this is important. This could mean something," said Pena.

After her diagnosis, Pena made the decision to have a double mastectomy. But the cancer had spread and she needed chemo and radiation.

There were numerous complications every step of the way, but Pena was always thinking about the future.

“Oh my God, this could have been so much worse. And my kids need me to be here,” she said through tears.

With the ATM gene mutation, it’s her children she thinks about the most. Both of them will one day be tested for the gene.

“The mom guilt! We all have the mom guilt, but mom guilt times a hundred when you find out that you probably have passed this on to your child and by the time she’s 26, she’ll have some really heavy decisions to make," said Pena. “And just hoping that before she gets there, there will be some sort of cure to this or some sort of answer for what we’re going through.”

According to breastcancer.org, 1 in 8 women in the U.S. will develop invasive breast cancer over the course of her lifetime. When a cancer patient tests positive for a gene mutation, Cox says it makes it easier to test everyone else in the family.

“She’s a warrior. She’s a cancer slayer,” says Cox.

“I am cancer free. Dr. Cox loves to point out that we got it. We did it and I am cancer free,” said Pena.

Experts recommend women to get a mammogram every year, trust your gut if you think something is wrong and to get genetic testing if you can. Appeal insurance decisions that deny you a test.

Copyright 2019 WWBT. All rights reserved.