Paula Bartuska loves riding her motorcycle. She enjoys unwinding in nature and spending time with family at their cabin. But her life hasn’t been easy, and she doesn’t take these moments of joy for granted. When she was 31, Paula felt a lump in her breast. Despite her young age, a biopsy revealed she had an early-stage ductal carcinoma.
Her diagnosis led to a mastectomy of her left breast and nine months of chemotherapy and subsequently, a prophylactic mastectomy on her right breast.
A Tough Diagnosis
For many years Paula’s health was stable and she was living her life as usual, until she felt a lump in her neck.
After a biopsy and PET scan, Paula was diagnosed with metastatic breast cancer (MBC), which was hormone receptor-positive (HR+) and HER2-negative (HER2-), the most common form of MBC. This diagnosis came as a shock, because so much time had passed since Paula’s initial diagnosis and treatment, and now it had spread to her lungs, bones and sternum.
Paula wanted to know how long she was going to live. She started researching MBC and gave herself a pep talk. “If anybody can beat this, I can,” she said. “I’m a fighter. I’m an optimist. My cup’s always half full.”
Initial Treatment Brings Hope
For years, Paula responded well to endocrine (hormone) therapy, which is a type of treatment that’s typically given to people with hormone receptor-positive MBC. Her doctors even considered her as showing no evidence of disease because her tumor responded so well to this treatment.
However, after several lines of treatment, Paula’s cancer markers started rising again. This prompted her doctors to conduct more testing to better understand what was causing her cancer to progress. That testing revealed that her tumor had an ESR1 mutation.
What are ESR1 Mutations?
ESR1 gene mutations in the tumor are uncommon when a person is first diagnosed with metastatic breast cancer. However, they become more common as people get hormone therapy and their cancers become resistant to treatment. Once ESR1 mutations develop, they can make the cancer cells more difficult to treat, in turn causing the cancer to progress.
The good news is that ESR1 mutations can be detected by a single blood test, also called a liquid biopsy. This is one method for detecting these mutations because the tumor sheds cells into the bloodstream. The other method is testing tumor tissue, but ESR1 mutations are not always uniformly present in the tumor tissue. So, if the tumor tissue test shows a negative result, it’s important to follow-up with blood test to double-check for ESR1 mutations.
Treatment Options for Those with an ESR1 Mutation
The reason that it’s important to test for the ESR1 mutation each time HR+, HER2- MBC progresses, is that this information can play a critical role in treatment planning. This is just what Paula experienced. Once her care team found that her cancer had an ESR1 mutation, she was prescribed a medicine that specifically targets this mutation.
“It is so important to ask for an ESR1m test whenever you experience disease progression. And, if you do have the ESR1 mutation, discuss your options with your care team,” said Paula.
Looking Down the Road
As Paula considers the future, she prioritizes joy and positivity and spends as much time as she can enjoying her family and friends and pursuing her hobbies.
“To be honest, half of my life has been consumed with breast cancer, so I don’t know what it would have been like to not have this disease,” said Paula. “I’ve been on many treatments over the years, and some of the treatments have hindered me so much that I didn’t feel well enough to do my day-to-day activities.”
Focusing on the positive can be overwhelming at times. “As much as I focus on the positive and on keeping this cancer at bay, there have been a few times that I’ve gotten lost in grief thinking ‘this is it — I’m not going to pull through this,’” Paula said. “But ultimately, I have to remind myself to focus on what and who I love, like the feeling of being outdoors and riding my motorcycle through a beautiful stretch of nature, and then I can get through those dark moments.”
Susan G. Komen would like to thank Stemline Therapeutics, Inc. a Menarini Group Company, for their generous support of the Patient Navigation Training Program.
Statements and opinions expressed are those of the individual and do not express the views or opinions of Susan G. Komen. This information is being provided for educational purposes only and is not to be construed as medical advice. Persons with breast cancer should consult their health care provider with specific questions or concerns about their treatment.
