Elizabeth Cowles Johnston, 39, is a busy working mother of two young children who directs the Hartford Marathon Foundation\u2019s public relations campaign each year.<\/p>\n
But race week in October 2015 was different. Just days before, Johnston noticed her sports bra wasn\u2019t fitting right and her breast\u2019s irritation just wasn\u2019t going away.<\/p>\n
\u201cI called my UConn Health primary care doctor, Dr. Rebecca Andrews<\/a>, and she had me come in that same afternoon,\u201d recalls Johnston whose medical journey quickly escalated that day.<\/p>\n \u201cIt was very scary,\u201d says Johnston, after her UConn Health radiologist Dr. Alex Merkulov<\/a> confirmed that a mammogram and ultrasound imaging showed something was lurking inside her breast that needed biopsy.<\/p>\n That test confirmed she was indeed facing breast cancer.<\/p>\n \u201cIt was a shock,\u201d Johnston says. \u201cI was in the best shape of my life \u2013 running, maintaining a healthy weight, and feeling so good.\u201d<\/p>\n Johnston\u2019s cancer was HER-2 positive, meaning her cancer cells overexpressed a growth factor receptor fueling her cancer\u2019s spread. She first needed rapid treatment with Herceptin and other HER-2 blockers to weaken her cancer while receiving chemotherapy, before she could have surgery.<\/p>\n But first, to stage her cancer she had a MRI\/PET scan. However, the scan didn\u2019t just show advanced Stage III breast cancer. It also revealed a growth on her lung that was a non-related early-stage lung cancer.<\/p>\n \u201cSurprisingly, Elizabeth had two different cancers at the same time,\u201d says Dr. Susan Tannenbaum<\/a>, chief of the Division of Oncology and Hematology at the Carole and Ray Neag Comprehensive Cancer Center<\/a>. \u201cHer advanced stage breast cancer was our biggest concern. The good news was that because they were different cancers, our team could move quickly to plan to treat and cure them both.\u201d<\/p>\n While Johnston was undergoing cancer care, genetic counseling revealed that her journey was going from an expected sprint to a lifelong marathon.<\/p>\n \u201cI was diagnosed with the very rare Li-Fraumeni syndrome,\u201d says Johnston, who learned that she carries a genetic mutation of the TP53 gene. This is a tumor suppressor gene, which means her body doesn\u2019t suppress tumor growth or regulate cell division properly. The mutation, which is rare, puts her at high risk for developing multiple cancers in her lifetime.<\/p>\n \u201cElizabeth is my first patient with Li-Fraumeni syndrome,\u201d says Tannenbaum. \u201cAnd I\u2019ve been practicing a long time. I\u2019m learning from her.\u201d<\/p>\n \u201cI now have a posse of incredibly smart people all working together for me,\u201d says Johnston who following her diagnosis was referred by Tannenbaum to Dana-Farber\u2019s Cancer Genetics and Prevention<\/a> specialists and is now closely followed by its Li-Fraumeni Clinic.<\/p>\n Genetic testing of her two children showed that they don\u2019t have the gene, even though their chance of carrying it was 50 percent. \u201cIt\u2019s a miracle,\u201d Johnston says.<\/p>\n Tannenbaum says the information unlocked by genetic counseling was critical to Johnston\u2019s personalized cancer care plan, the collaboration with other regional cancer care doctors specializing in Li-Fraumeni syndrome, and her ongoing lifelong screenings to catch any newly developing cancer.<\/p>\n Johnston says she is feeling good. \u201cToday, I live like so many working parents trying to make time for everything, but I have to be very proactive about my health,” she says. “My life will never be risk-free of cancer. I will likely get another cancer, but I am grateful that Dr. Tannenbaum and UConn Health are running point to make sure we catch it early if and when it does.”<\/p>\n This October marks one year since Johnston completed her care for breast and lung cancers. Once again, she will be working the Eversource Hartford Marathon<\/a> on Oct. 14.<\/p>\n Her message to other women: \u201cPay attention to your body, and at the end of the day make sure you are totally comfortable where you are getting care.<\/p>\n \u201cOctober is so much more than pink ribbons and products,\u201d she adds. \u201cTake that effort and those dollars and put them to work in the amazing research institutions, cancer centers, and patient support programs like those at UConn Health that are truly making a difference in the lives of breast cancer patients like me each and every day.\u201d<\/p>\n