A Devastating Diagnosis

Fecci recommended that she undergo genetic testing to find out why she had had three primary cancers.

“If Dr. Fecci had not recommended this, my life right now would look very different,” she says.

The testing revealed that she has Li Fraumeni Syndrome (LFS), which means she has a mutation in the TP53 gene, which produces the P53 protein, known as the “guardian of the genome.” Her body has a reduced ability to control cell growth and division that can lead to cancer.

Or as Waginger puts it, with her characteristic sense of humor, “I am a well-oiled cancer machine.”

Because of the LFS diagnosis, Waginger underwent intensive cancer screening, including a colonoscopy and MRIs, at Mission Hospital, near her home. (Because of her increased susceptibility to DNA damage, any screening or treatment screening that involves radiation, such as X-rays, are not recommended for her.)

Giving Thanks

In January 2019, Waginger had yet another setback. An MRI revealed a small spot where the brain tumor has started to grow again. This time surgery was not an option, because the risk of endangering vital functions would be too great. And the LFS diagnosis means that radiation treatment is also not a good idea.

Waginger’s doctors recommended a non-standard oral chemotherapy. She takes these pills every six weeks and will do so indefinitely, depending on how the tumor responds.

Just two months after that news, screening revealed breast cancer. Waginger came to Duke for a double mastectomy and reconstruction.

“I have had an unimaginable amount of medical mayhem in the last two years. Too much to even process some days,” Waginger says. “But I know without a doubt that without the Li-Fraumeni diagnosis, the colon cancer and breast cancer would have not been caught at a stage that was curable.”

"From the moment I came through the doors at Duke Cancer Center, I felt more comfortable than I have been anywhere else. I know that I'm getting the best care that I can get in the nation, and that's why I'm here,” she says.

The multidisciplinary team approach at Duke is a big part of what makes it an ideal place for people with complex syndromes like Li Fraumeni to get care.

“Constant coordinated communication between experts in every field is a big differentiator for us. We work together to make the experience seamless for the patient,” Fecci says.

Waginger says she'd like to see as much as possible done to understand LFS.

“The diagnosis of Li-Fraumeni Syndrome has broken my heart into a million pieces, but it has also opened my eyes to a clearer vision,” she says. "No two patients with LFS will have the same tumor makeup or have the same cancer diagnoses. This makes research regarding our condition more complex and challenging. And it means that it's crucial for people to support research."

“There’s a lot of ifs,” she says. “We’re not promised tomorrow. None of us are.”

She and her husband spend as much time together as they can.

“We try to enjoy every single moment, and enjoy all our family and friends,” she says. “Cancer has taught me how blessed I am. There’s so much to be thankful for.”