The Cancer Gene

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When Karen Spahn got the call on November 20, 2012, she couldn’t breathe. She was in complete shock. Like most who receive that dreaded phone call, she never once thought this would ever happen to her.

As the nurse explained her diagnosis, Karen thought about her future. She wondered how she’d tell her husband and her children. She knew they’d all be devastated, of course, but at that time she had no idea how profoundly this diagnosis would end up affecting them all.

It was just a few weeks prior that the 61-year-old was getting a routine physical when her doctor noticed something amiss and recommended she get an ultrasound. Karen didn’t think much of it – she had recently gotten a mammogram – but her doctor convinced her.

The ultrasound confirmed her doctor’s initial suspicions and a biopsy was ordered. It was breast cancer.

Thankfully, it was caught early. Within a couple hours, Karen was on the phone with Deb Theine, a nurse navigator at Columbia St. Mary’s Milwaukee, who helped settle her down and get her set up with her cancer care team.

“I cannot say enough about all of the remarkable people we worked with,” says Karen. “They were all so positive and supportive.”

On December 13th, Karen went in for surgery and then underwent four weeks of radiation therapy. Today, Karen is cancer-free and doing well. She’ll have screenings every six months – as any cancer survivor would – and she recently started a course of medication that could last up to 10 years.

“We are doing everything we need to do to stay on top of it,” Karen says. “I think about it every day, but I’m not afraid.”

But that’s just the beginning of the story.

Among the many members of Karen’s cancer team was Laura Rebek, a genetics counselor. When Karen and her husband, Chris, met with Laura, it was determined Karen’s family history posed no significant risk. But Chris’ family history was worrisome. Laura recommended he get tested for a mutated BRCA gene – “the cancer gene.”

A simple blood test was all it took to determine that Chris, in fact, had the mutated BRCA1 gene. For him, this meant an increased likelihood of prostate cancer. As a precaution, he will undergo more frequent screenings.  But Karen and Chris’ attention quickly turned to their three children, especially their daughter, Megan.

Megan was just 32 years old and has two daughters of her own. So, a BRCA1 mutation could have a devastating ripple effect – women with the BRCA1 mutation are significantly more likely to develop breast and ovarian cancer. But instead of being burdened with the information, Karen says Megan looked at it as a gift, a blessing that came through this horrible experience.

“We both agree knowledge is power,” says Karen. “It’s important for her to know.”

After careful consideration (and actually changing her mind a few times), Megan was tested on March 11. While she is still awaiting the results, she says she’s already made peace with the possibly it comes back positive and is planning on being aggressive with any and all precautionary measures. But regardless of what the test says, ultimately she is grateful she was given the opportunity to be proactive about her health.

“The ability to have this knowledge was the best thing I could do,” she says. “I have two young daughters and I felt that it’s important for me to do whatever I could.”



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