Her doctors then suggested genetic testing, which revealed a rare, inherited, genetic disorder — Li Fraumeni Syndrome. The condition, identified by mutations in the TP53 gene, had predisposed her to cancer — not only the breast cancer she already had, but perhaps additional cancers down the road.
Cook said she felt "the deep and dark void of depression looming."
With the new diagnosis of Li Fraumeni Syndrome and with her cancer showing little sign of improvement, she requested a referral for more specialized care at Duke Cancer Institute.
"When I first arrived at Duke, I had that feeling that something was different," shared Cook. "It was a feeling that started to illuminate my dark path."
From her first appointment, she felt like she'd gained a fresh start with a care team that included breast surgical oncologist Lisa Tolnitch, MD, breast medical oncologist Michael Spiritos, MD, and radiation oncologist Diandra Ayala-Peacock, MD, as well as genetic counselor Elizabeth Wignall, MS, CGC, with the Duke Supportive Care & Survivorship Center’s Clinical Cancer Genetics program.
First, she'd undergo a double mastectomy. Unfortunately, the pathology results from her surgery showed that cancer was still present.
“The news is not what I wanted to hear, but I knew that I could put all my faith in their care,” said Cook, who then began a regimen of 14 more cycles of chemotherapy and intensive radiation at Duke Women's Cancer Care Raleigh.
When she walked into the initial appointment with genetic counselor Wignall, she was preoccupied. She wondered, "What could I have done differently?"
Wignall helped her to stop dwelling on the past and shift her focus to the future.
Because LFS is associated with a high lifetime risk for cancer — including, most commonly, soft tissue sarcomas, bone cancers (osteosarcomas), premenopausal breast cancers, colon cancer, gastric cancer, adrenal cortical tumors, and brain tumors — she advised Cook about the various types and timing of preventative scans she should undergo in order to detect any new cancers at the earliest stage possible. (More than one type of cancer may occur in the same person.)
In addition, knowing that there was a 50% chance her children shared her LFS diagnosis (and on Wignall's recommendation), Cook had her children tested for LFS. The tests came back positive for two of her four children. Next, Wignall worked with a team at Duke Children’s to get those children scheduled for preventative cancer scans — testing that will continue on a regular basis for the foreseeable future.
Taking action for herself and for her children gave Cook hope.
"Working with Elizabeth helped me to embrace that LFS is now part of my life story, NOT the defining moment of it," she shared. “While my heart may break that I passed on this gene to my kids, Duke provides a great genetics team to give us hope, as we walk this journey. Elizabeth's guidance has empowered me to educate my children that LFS is not something to be feared.They can carry on a 'normal' life. Their life just means more frequent scans, and being very aware of their bodies and any changes."