Since October 2014, I have been battling breast cancer. It was all very shocking as I’ve always been known as an athletic, active, lively, loving, and very caring 30-year-old swim instructor. No one could ever have imagined that breast cancer was lurking in my body. Even more frightful was a diagnosis of an extremely rare genetic disorder, Li Fraumeni Syndrome.
After returning from a dream vacation with my Yoga group (and having just turned 30), I noticed a small lump between my breast and rib cage. Intuitively, I knew this could be serious so I made an appointment to see my Primary Care Physician. Every step along the way (leading up to my diagnosis), I thought and was told that, “it’s probably nothing, you have no cancer running in your family, but better to have it checked.” After physical exams, mammograms, breast MRI’s, needle biopsies, and 3D MRI’s, the diagnosis came — Stage 2 Breast Cancer, ER+/PR+/HER2+. The next few months would be an education on cancer for us all.
As a routine, genetic testing is offered to young women diagnosed with breast cancer. Typically, they test for the more common genetic mutation — BRCA 1/2. While an additional panel of genetic tests had been offered to me, the geneticist didn’t feel it necessary considering the lack of cancer in my family history. Nevertheless, I decided to have the additional testing (as an out-of-pocket expense) simply for my own peace of mind (and for my younger sister). I was told that I’d get the results in about eight weeks.
During the interim, I underwent a lumpectomy to remove the tumor and eight different lymph nodes. The surgery was a success and my lymph nodes were clear! At the follow-up appointment, I talked to my surgeon about a chemotherapy and radiation regimen. We were all optimistic, as the disease had been caught early. The prognosis was very positive. The surgeon even dared to use the word “cured.”
Then came the appointment with the geneticist.
He started off with our copy of family tree and incidence of cancer. Nothing remarkable there. Then further about BRCA 1/2. No sign of mutation there. Then he dropped the bad news…an extremely rare mutation on the TP53 gene (known as Li Fraumeni Syndrome) was detected. In most incidences, this is an inherited disorder, evidenced by several family members developing multiple cancers starting in early childhood. My mutation was unusual; it was not inherited but developed shortly after conception. I didn’t have childhood cancer — this was my first diagnosis. Apparently, there are only about 400 families worldwide affected by this disorder. With the advent of genomic testing, however, they expect that number to rise.
Li-Fraumeni Syndrome is a cancer predisposition syndrome, similar to the more well known BRCA1 and BRCA2 genetic mutation (the “Angelina Jolie” gene). Unfortunately, Li Fraumeni is associated with the development of more than just breast and ovarian cancers. A variety of primary cancers, including brain, bone, soft tissue, lung, melanoma, colon, and leukemia often stem from this this disorder. Female carriers have an almost 100% lifetime risk of cancer by age 60, and a 50% risk of being diagnosed with breast cancer by age 30. Over the average lifespan, there is an expected risk of developing several different primary cancers.
There is no known cure or treatment for this syndrome, and future cancer prevention consists of aggressive surveillance for known cancer risks. This includes an annual Rapid Full-Body MRI Scan, brain MRI, breast MRI, pelvic ultrasound, and bi-annual colonoscopy. Monthly blood work to detect circulating tumor cells is also recommended.
Fortunately, my breast cancer was detected early and the surgery and chemotherapy regimen was a success. Radiation therapy, however (which is often used in conjunction with such a treatment regimen), was not advised. For Li Fraumeni sufferers, exposure to diagnostic and therapeutic radiation is actually known to induce certain cancers. Aggressive chemotherapy is also associated with cancer recurrence; thus, my treatment options may be limited if I’m ever diagnosed with another primary cancer.
Through my treatment at USC Norris Comprehensive Cancer Center, I’ve been seen by some of the best Genetic Oncologists in the country. After completing my post-surgery chemotherapy regimen, the doctors implemented an aggressive “plan of surveillance” and for now, my results have been encouraging. I am cautiously optimistic that my future will be filled with many more blessings. Knowing why I developed cancer at such an early age answers one of the big questions that weighs on my mind. But knowing that I could develop a new primary cancer also weighs heavily. It’s an incredible burden for a 30-year-old to carry around, so I recently joined the Li Fraumeni Support Group (LiFE) to further educate myself about advances in research and preferred treatment options. I’ve been in contact with clinicians at both the Dana-Farber Cancer Institute and MD Anderson Comprehensive Cancer Center, where they have specific study groups dedicated to Li Fraumeni Syndrome. Although I may never meet anyone face to face with the same condition, I know that I’m not alone.
Those who have seen me at work know what a joy it is for me to spend time both in and out of the pool with children. Since I was young, teaching and working with children has always been my goal. And anything related to the water has been a passion. From summer swim club to Junior Lifeguards, swim teams, water polo teams, and Division I Crew Team at Long Beach State — I’ve loved it all. And it was at Tichenor Orthopedic Center for Children in Long Beach where I developed my talent for working with disabled children. As hobbies, I have a deep love for yoga, traveling, riding my bike, decorating, and tending to my succulents and orchids.
This fall, I’m scheduled to undergo a bilateral mastectomy and reconstructive surgery. Once I recover, I hope to return to work full-time and continue teaching my students valuable lessons in the water, as well as how to stay strong and overcome adversity outside the pool. In the meantime, I take each day as it comes. I think for many battling cancer, it can be easy to spread yourself too thin — dealing with work, insurance bills, appointments, re-scheduling appointments, healthcare professions, etc. Through Yoga, I’ve learned to embrace living as a “practice.” It takes patience even when I’m not sure I have any time left. But my relationships are now stronger and more meaningful. While I sometimes fall back into the habit of taking on too much (particularly when I’m feeling “good”), I’m quick to take pause and remind myself to slow down and stop rushing on to “the next task.” And so many friends and family have offered help in the way of kindness — big and small. For that, I will be eternally grateful.
Click here to check out Vanessa’s “GoFundMe” account: gofundme.com/missvanessa.