October is Breast Cancer Awareness Month. UConn Health is encouraging everyone to stay on top of their health, sharing the story of how genetic testing revealed a gene mutation in a Southington mom that resulted in her having two cancers at once.
In a matter of days, Elizabeth Johnston’s entire world changed. At just 37 years old the young mother found out she had stage three breast cancer and, thanks to doctors at UConn Health, also learned she was living with lung cancer.
“Everything happened very fast. I had a mammogram and ultrasound on Friday and a biopsy on Monday morning and I knew I had cancer by Wednesday night," said Johnston.
That reality of two individual cancers that did not spread from each other prompted Elizabeth’s doctors to begin special genetic testing to find out how a young, healthy, non-smoking woman with no obvious risk factors or family history could have this happen.
Dr. Dana Scott is an obstetrics and gynecology physician at UConn Health who works with Johnston.
“Any woman who is that age and diagnosed with breast cancer qualifies for further genetic evaluation to try to figure out why they developed breast cancer at such a young age. It is a test that’s done through a genetic testing company that basically looks at her own genes to determine if she has any mutations that increase her risk of breast cancer,” said Scott.
Through that special testing, it was revealed Johnston has something called Li-Fraumeni Syndrome which means that Johnston is more predisposed to getting additional cancer.
She went through more than a year of surgeries and treatments at UConn Health and at Dana-Farber Cancer Institute in Boston. She is cancer-free today. But the gene mutation her testing discovered is something she’ll live with for life, so regular monitoring is essential.
“Now she knows there’s this mutation that increases her risk and so she undergoes a lot of screening that is specific to that mutation to try to identify other cancers as early as possible,” said Scott.
Elizabeth has successfully fought both cancers and wants people to learn this from her story -listen to your body and when something doesn’t seem right, get it checked because it could save your life. She is a living example.
“You can only fight something that you know is there. Thinking I don’t want to get this test because I don’t want to know the result is not going to get you there,” she said.