Dealing with Li Fraumeni Syndrome at Duke Cancer Institute: A Place to be Thankful

Dealing with Li Fraumeni Syndrome at Duke Cancer Institute A Place to be Thankful

Kortne Waginger has a rare genetic condition called Li Fraumeni Syndrome (LFS) that predisposes her to cancer. She found this out after a Duke physician recommended she receive genetic testing after she was diagnosed with cancer for the third time at just 27 years of age. Although the overall prospects are bleak, in the here and now she has received the best possible care in the world and doesn’t take the present moment for granted—appreciating the time she has for life.

What is Li Fraumeni Syndrome?

An inherited familial predisposes the patient to a wide range of certain, often rare, cancers. This is due to a change (mutation) in a tumor suppressor gene known as TP53, reports the LFSA Association. The resulting p53 protein produced by the gene is damaged (or otherwise rendered malfunctioning) and is unable to help prevent malignant tumors from developing. Not everyone with a TP53 gene mutation will necessarily develop cancer but the risks are substantially higher than in the general population. A rare disease, cases have been reported in fewer than 500 families.

Cared for at Duke

Duke Cancer Institute has been caring for Kortne for some time now. In fact, it was a Duke physician that first suggested that she get a genetic test based on the number of cancers she already had fought off. She was first diagnosed at Duke where had an awake craniotomy. She was seen by Peter Fecci, MD, PhD, associate professor of neurosurgery, and others. She has had a tough road but feels grateful for the care at Duke, stating, “I know that if I hadn’t been treated at Duke, I wouldn’t be doing as well as I am now.”

Kortne has been more comfortable since going under the care of Duke Cancer Center, noting, “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.”  

Multidisciplinary Teams

Duke prides itself on mobilizing multidisciplinary teams for whole person-centered care coordination. This makes a big difference to a patient like Kortne facing an incredibly complex rare disease such as Li Fraumeni. “Constant coordinated communication between experts in every field is a big differentiator for us,” noted Dr. Fecci.

Grateful and Understanding of the Importance of Research

She is grateful for a whole team of providers at Duke that have looked after her. She commented to the Duke Cancer Institute blog that “The diagnosis of Li-Fraumeni Syndrome has broken my heart into a million pieces, but it has opened my eyes to a clearer vision,” noting, “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 its crucial for people to support research.”

Kortne emphasizes that life has a lot of “ifs.” She emphasized that no one is promised a tomorrow. Hence, her and her husband spend as much time as possible together. “Cancer has taught me how blessed I am. There’s so much to be thankful for.”