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A Diagnosis of Li-Fraumeni Syndrome Has Focused My Life Direction

Knowing my genetic fate has both empowered and broken me, but eventually, I decided I had to live, normally.


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Despite the fact that I had to have open heart surgery at age 7 to fix a congenital heart defect and then more surgery, chemotherapy, and radiation therapy to treat a diagnosis of rhabdomyosarcoma a year later, I never felt like I was a sick kid. Children don’t have the existential worries about life and death that adults have, and I wasn’t afraid. When the cancer recurred a few years later, I still had no fear. However, cancer and its treatment had left their imprint on my psyche, and as I grew into adulthood, the specter of the disease hung over my head.

After college, I took some time off to work; then I pursued a Master’s degree in global health and biostatistics and decided to go to medical school. It was during the process of applying to medical school that I found a lump in my left breast. I was 27.

A mammogram detected a suspicious mass in that breast and also one in my right breast. Biopsies of the two masses showed that I had triple-positive breast cancer in my left breast and triple-negative breast cancer in my right breast. Two different breast cancers. That was the first blow. The knockout punch came a few weeks later, when a positron-emission tomography scan to check for breast cancer metastases turned up a nodule in the upper lobe of my right lung. The pathology report confirmed that I had metastatic breast cancer, and I grappled with the fact that I had incurable cancer. The next step was deciding on an appropriate treatment regimen.

Several physician friends of mine convinced me to get a second opinion—not on the diagnosis, because it certainly seemed reasonable that I had metastatic breast cancer, but on the treatment my oncologist was proposing. I found a wonderful medical team at Dana-Farber Cancer Institute in Boston. After their review of my imaging scans and pathology report, it was determined that the nodule in my lung was actually very early–stage non–small cell lung cancer and not a spread of breast cancer. Ironically, this was good news because it meant that all the cancers were potentially curable.

Being Where I Belong

Because the lung cancer posed the most urgent risk, it was treated first. I had a lobectomy to remove the tumor and then began 18 weeks of neoadjuvant chemotherapy for the breast cancers, including the combination regimen of doxorubicin and cyclophosphamide, followed by trastuzumab (Herceptin) and paclitaxel. Although my oncologist offered me breast-conserving surgery, I opted for a bilateral mastectomy instead. I wanted to be rid of cancer—although that may be impossible.

I had decided against adjuvant radiation therapy. Before beginning treatment, I learned through genetic testing that I have Li-Fraumeni syndrome with the p53 gene mutation, and that the condition could increase the risk of additional radiation-associated cancers. It’s impossible to describe the unique panic that comes with knowing that at any moment your cells could rebel against you and turn into malignant renegades, sparking a cancer recurrence or initiating a new primary, treatment-related malignancy. Knowing my genetic fate has both empowered and broken me, but eventually, I decided I had to live, normally.

My Li-Fraumeni diagnosis has crystalized what is important and meaningful to me, especially my family and my career.
— Shekinah Nefreteri Elmore, MD

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Two weeks after completing treatment, bald and easily winded when I walked, I began classes at Harvard Medical School. Even if I didn’t live long enough to complete my studies, I knew this was where I wanted to be, and the experience was life-affirming.

Although first drawn to primary care as a specialty, after spending a year working in a cancer center in Rwanda, helping researchers assess which patients would benefit the most from radiotherapy, I came back to Harvard and did a rotation in radiation oncology. I knew it was where I belonged.

I’ve since spent time in Harare, Zimbabwe, researching the role of radiation therapy in the treatment of breast cancer, and I recently returned from Vienna, where I completed an internship program with the International Atomic Energy Agency to improve access to radiation therapy in cancer care from curative treatment to palliation for patients in low- and middle-income countries.

Living in the Present

Today, I remain cancer-free. As I get farther removed from the trauma of my cancers, some of the day-to-day intense worry has started to recede, but it never completely goes away. It sounds so cliché—and I don’t want to minimize how difficult it is—but I try to make the most of each day. Medicine is such a forward-directed field and so high-achieving that it requires you to constantly plot your next career moves. And although I admire those characteristics about the profession, I counterbalance them with making sure that I’m very happy with what I’m doing in the present. And I try to make goals I can accomplish in the near rather than distant future, because who knows what next year will bring?

Dr. Elmore’s husband, Adam Cluff, and their newborn son, William.

On October 24, 2018, my husband, Adam, and I had our first child, William. Making such a critical decision was both terrifying and life-affirming.

I don’t know how long I will live, but I know I will never regret bringing more life, more love, and more joy into my life. It’s difficult, but I try not to let cancer discourage me from having truly revelatory experiences. My Li-Fraumeni diagnosis has crystalized what is important and meaningful to me, especially my family and my career. And I don’t put off doing anything on the top of my list and get rid of things in my life that I don’t want to do. That is how I try, with the help of Adam, to live the life I’ve been given. 

A resident in radiation oncology in the Harvard Radiation Oncology Residency Program, Dr. Elmore lives in Boston.

Editor’s Note: Columns in the Patient’s Corner are based solely on information The ASCO Post received from the survivors interviewed and should be considered anecdotal.


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