Finding Hope in Her Genes
By: Kristy Sartin, LRT/CTRS, External Relations, Supportive Care and Survivorship Center
The Right Team at the Right Time
A DCI breast cancer care team joins forces with a genetics counselor to treat mother with high-risk genetic syndrome; prompting testing, then preventative screening for her kids.
Living a good life at age 35, Rebecca Cook thought she had more time before she needed to start thinking about screening for breast cancer. After all, she was a young mom of four kids who successfully managed to breastfeed for the past seven years, including a set of twins. (Breastfeeding, she had heard, is believed to lower breast cancer risk.)
And she thought time was on her side.(Cook hadn’t yet reached age 40, the recommended age to start screening women of average risk.)
But in February of 2020, as news reports began to swirl about the emergence in the U.S. of a potentially deadly virus, COVID-19, Cook found herself facing her own health crisis — a diagnosis of stage 3 inflammatory breast cancer.
She described the next few months on chemotherapy — 16 rounds of infusions at a clinic close to home in Norfolk, Virginia — as a whirlwind. Due to pandemic-safety rules, she was forced to attend her treatments in isolation — without the comfort of family or friends by her side.
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."
Cook completed the latest round of chemo treatments in July and was soon after declared "in remission." Over Labor Day weekend, she was able to participate and cross the finish line of her first half marathon.
“As much as I strive to keep the cancer away, keeping my mental health strong in this journey has been just as important. Running, counseling, medication, a healthy diet and medical providers that value mental health all help me do that,” she said.
Julie Poucher Harbin, Senior Writer, DCI, contributed to this report
Supportive Care & Survivorship at DCI
At Increased Risk
Ringside View Into The Circle Of Life
NIH Genetic and Rare Diseases Information Center: Li-Fraumeni Syndrome
Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology Journal of the National Comprehensive Cancer Network January 6, 2021
*Carolyn Menendez, MD, a co-author of the above study, is an assistant professor in the Duke Department of Surgery, a breast surgical oncologist and the director of Duke Cancer Institute’s Clinical Cancer Genetics Program