Family takes on cancer, raises awareness about genetic testing

Cape Girardeau family lives with cancer gene
Published: Nov. 1, 2017 at 4:11 PM CDT|Updated: Nov. 2, 2017 at 10:14 AM CDT
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(Source: KFVS)
(Source: KFVS)

JACKSON, MO (KFVS) - We all know someone currently fighting cancer, perhaps someone close to you.

For a Cape Girardeau County family, cancer is all too common. But, thanks to genetic testing they are doing everything they can to take matters into their own hands.

Family gatherings aren't quite like they used to be. They now swap stories about chemo and surgeries.

"It was a horrible year, but somehow we've survived it," said Barb Cagle.

Last June, Cagle found a lump in her breast. She went in for a mammogram and found out she had cancer.

She was devastated, and one of the first things she did was reach out to her sister, Sandi Essner, "I called Sandi and she said everything's gonna be great, you've got this...biggest cheerleader," said Cagle. "Five days later she says, I've just found out I have stage 4 ovarian cancer."

"It was pretty sobering, I knew I was in huge trouble," said Sandi Essner.

Barb and Sandi set out to fight cancer, together.

Little did they know it would turn into a family affair.

"The genetic department came in and said, you have a big family would everyone be willing to be tested," said Cagle.

Barb and Sandi are two of the eight siblings.

Given their recent diagnoses, their physicians recommended genetic testing.

A blood test confirmed both sisters were BRCA1 positive.

Washington University breast surgeon, Dr. Julie Margenthaler at Siteman Cancer Center in St. Louis explains what that means.

"[For those who are BRCA1 positive] By age 70, about 87 percent of all women will have a breast cancer develop, and that's different from the average population where it's about 12 percent," said Dr. Julie Margenthaler. "So we're talking about a very serious risk elevation."

Sandi Essner put it this way, "It's like you have little soldiers and those are cancer-fighting soldiers in your genetic make-up, but when you have the mutation of the BRCA that means you don't have any soldiers."

Barb and Sandi immediately thought of their other siblings and the rest of their family.

Their sister Susan Crites had uterine cancer in 2008, and then breast cancer in 2011.

Susan didn't waste any time getting tested. She too is BRCA1 positive.

"I gave the blood to the geneticist and she came back with the news and I said ok, I see the whites of the enemy's eyes. Mama's goin' in," said Crites.

She quickly opted for a bilateral mastectomy.

Concerned after hearing about what was going on with sisters, Jackie Twidwell went in for screening.

"My mammogram that day was clear," said Jackie Twidwell.

She too tested positive for the BRCA gene mutation.

Even though her mammogram showed no sign of cancer, she couldn't shake a bad feeling.

"We got halfway home and I turned to my husband and said I have to do it, I have to get this surgery done," said Twidwell.

She opted for a preventive double mastectomy. And, she's glad she did.

Here's how her conversation with the doctor went post surgery.

"I assume no cancer, she said...oh did have cancer. We found cancer when we went through the tissue. You had cancer...she said, you don't anymore," said Twidwell. She doesn't want to imagine what might have happened had she not listened to her gut feeling.

"I called Sandi and told her thank you, thank you and Barb for pushing me," said Twidwell.

Out of the eight siblings, 6 of them have tested positive for the gene mutation.

"I'm the youngest brother of the group and the last to be diagnosed with cancer," said Scott Toll.

You could say, Scott Toll was the stubborn one.

When his siblings first started talking about genetic testing, he didn't want any part of it.

"I was like, it doesn't happen to me," said Toll. "It happens to everyone else."

Scott thought he was invincible until he was diagnosed in February with prostate and neuroendocrine cancer.

"From what they're thinking, I had it 5-10 years," said Toll.

Scott's diagnosis came several months after his sister Barb found out she had breast cancer, and his sister Sandy found out about her stage four ovarian cancer.

Another sister, Susan, is a cancer survivor.

And, his sister Jackie didn't find out she had cancer until she had preventative surgery.

Those four siblings were BRCA1 positive, and turns out Scott is too.

"I figured I came into this world kicking and screaming and I'm going to go out the same way," said Toll. I'm not going to give up on this."

As a breast surgeon, Dr. Julie Margenthaler also does a lot of counseling and genetic testing.

"In order to determine who is a good candidate for genetic testing you have to take a detailed family history," said Dr. Margenthaler. "So when our patients come in we ask not only about parents and siblings and children, but also about third-degree relatives and second-degree relatives."

With a blood test, doctors can determine if a patient has a genetic mutation.

That mutation puts a person at much higher risk of getting cancer.

"So, instead of having repair mechanisms in your body to fight off cancers naturally, which most of us have," said Dr. Margenthaler. "BRCA1 and BRCA2 patients don't have that repair mechanism."

Another sibling, Lee Toll, saw the writing on the wall.

"I got online and read stuff and researched it myself and thought yeah, I need to be tested," said Toll.

So far, he's cancer-free, but he does have the gene mutation.

"My daughter has it (the mutation) now," said Toll.

His daughter, Jennifer Wharton, took no chances as soon as she too got her test results.

"I already started feeling like a ticking time bomb," said Jennifer Wharton.

She didn't think twice about having her ovaries removed, then a double mastectomy.

"I made my decision because I was tired of being on the fence and it's not a comfortable place to be," said Wharton.

Watching her relatives, like her Aunt Sandi, fight cancer helped solidify Jennifer's decision.

"Here I sit, 3 surgeries, 3 big surgeries later and six months of chemo, weekly chemo, it's a miracle I'm still sitting here," said Sandi Essner.

She's made it her mission to educate others.

"Anything I can do to change the death sentence that ovarian cancer is, I'm going to do it while I'm here," said Essner.

That includes tough talks with her own children.

"I have a 7 and 8 year old right now and my main thought is I'm not scared of dying, but I don't want to leave my family," said Essner.

Sandi also has a 22-year-old son, Nick.

He also has the gene mutation.

"When you're my age and younger you don't really consider mortality at all, how fleeting life is or how fleeting it can be," said Nick Essner, Sandi's son.

He is already making healthy life changes, but also difficult decisions about his future.

"Now that I know I have this gene, I mean I have to really consider whether it's fair for me to have kids," said Nick Essner.

"If they have children, if they have daughters especially, they can be silent carriers," said Dr. Julie Margenthaler.

Doctor Margenthaler says those with the mutation have an 80 to 90 percent risk of getting breast cancer, and 40 to 45 percent chance of getting ovarian cancer.

She says it is especially risky for women, but men with the BRCA gene also run a higher risk of developing male breast cancer.

"More importantly for men, they can be at higher risk for prostate and colon cancer," said Margenthaler.

Dr. Margenthaler says the vast majority of people will be negative for this mutation, but if you have a family history you should talk with your doctor about your options.

"It's just a matter of educating people about that risk and understanding we can do things to prevent it, or keep a much closer eye on the patient so hopefully we can find those cancers at very early stages when they're curable," said Dr. Margenthaler.

For this group of siblings, instead of focusing on the negative they're doing everything they can to enjoy life.

"I think as a group we've come together trying to take care of each other," said Susan Crites.

As they fight the disease and do what they can to empower the next generation.

"They'll be able to maybe find answers for our kids and grandkids or great-grandkids, something that will benefit a lot of people," said Jackie Twidwell.

According to the Centers for Disease Control and Prevention, about 1 in every 500 women in the United States has a mutation in either her BRCA1 or BRCA2 gene.

If either your mother or your father has a BRCA1 or BRCA2 gene mutation, you have a 50 percent chance of having the same gene mutation.

The CDC also said about 50 out of 100 women with a BRCA1 or BRCA2 gene mutation will get breast cancer by the time they turn 70 years old, compared to only 7 out of 100 women in the general United States population.

About 30 out of 100 women with a BRCA1 or BRCA2 gene mutation will get ovarian cancer by the time they turn 70 years old, compared to fewer than 1 out of 100 women in the general U.S. population.

If you have a family history of breast cancer or inherited changes in your BRCA1 and BRCA2 genes, you may have a higher breast cancer risk.

Talk to your doctor about these ways of reducing your risk.

According to the CDC, ways to do so would be to take antiestrogens or other medicines that block or decrease estrogen in your body.

Surgery to reduce your risk of breast cancer, such as prophylactic (preventive) mastectomy (removal of breast tissue).

Also, prophylactic (preventive) salpingo-oophorectomy (removal of the ovaries and fallopian tubes).

According to Dr. Margenthaler, almost all insurance companies cover genetic testing, if the patient meets the criteria.

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