Deanna’s Discoveries: How a mother’s blood test saved her daughter’s life

What would you do to save your child’s life? Would you run into a burning building or jump in front of a speeding car? How about having a blood test?

That’s what one local mother did. She knew she had breast cancer, and she wanted to do whatever she could to prevent her family from getting it as well. So she pushed for genetic testing.

Mom Alice Pena and her daughter Melissa Selner have so much in common: a keen intellect, an infectious laugh, a love of travel and something else neither expected, a gene mutation that increases their chance of developing several types of cancer, including breast cancer.

Alice was 71 years old when she went in for a routine mammogram and ultrasound.

“On the ultrasound, they discovered something suspicious and then I had a biopsy and I got the diagnosis of breast cancer,” said Pena.

But doctors had caught it early. It was stage zero and treatable with surgery alone.
But Pena was worried her family might be at a greater risk of developing cancer. So she asked about genetic testing. But she was told she didn’t meet the qualifications to have it covered by insurance. Pena was undaunted. She decided to pay for it herself.

“Being so family-oriented, I just decided that I needed to do this not just for me but for my family,” said Pena.

She saw Carol Lustig, the associate director of the Wilmot Hereditary Cancer Program.

“When someone comes to us for genetic testing, we talk about testing genes that are associated with just that organ or genes associated with all kinds of other cancers,” said Lustig. “This is called panel testing.”

She discovered Pena carried a gene mutation that increases the chance of developing breast cancer. It was her CHEK2 gene. Everyone has two copies, one from Mom and one from Dad. In Pena’s case, she carried the mutation creating a 50/50 chance of passing it on to her children.

So Selner was tested and discovered she, too, has the mutation.

“We said, ‘OK, let’s start the screenings, but your risk of breast cancer is really low,’” Lustig recalled. “’But better safe than sorry. We know this information; we’re going to act on this.”

“And I said, ‘OK, let’s do it right now,’” Selner recounted. ‘Let’s schedule it right now because knowledge is power.’”

Because she has a gene mutation, Selner’s insurance paid for additional screening including an MRI. That’s how doctors found the mass. She was only 37.

“When we found out that she had early-onset breast cancer, that was very surprising,” said Lustig.

I broke down bawling, in tears,” Selner remembered.

But she quickly realized that had it not been for genetic testing, it could have been years before the cancer was found. The earliest most women start breast cancer screenings is age 40.

“I wholeheartedly believed that her [Pena] cancer saved my life,” said Selner.

Selner now has a daughter of her own, and when she’s old enough, she’ll be tested as well. Selner believes it’s the chance to give her little one the gift of life again.

“You do what you have to do to protect the people you love,” said Selner.

Genetic testing has made tremendous strides over the last decade. Scientists can now test for a genetic predisposition to a whole host of cancers. If you or a family member has been diagnosed with cancer, it’s worth having a discussion with your doctor about genetic testing.

In many cases, insurance will pay for it. Information is power, and knowing you have a genetic mutation gives you the chance to take critical steps to prevent getting cancer.