This week’s blog is an essay written by Neelabh Datta as part of last year’s Student Voice Prize essay competition.
The Student Voice Prize is an annual, international essay competition, run in collaboration with Medics 4 Rare Diseases. The aim is to raise the profile of rare diseases within the medical field, particularly with medical students, nurses and scientists who may have never come across rare diseases in their training.
Neelabh’s essay explores a patient’s perspective living with the rare condition, Li-Fraumeni Syndrome.
“I entered the essay competition to shed light on the struggles of individuals with genetic diseases, particularly women, who face extraordinary challenges. I was thrilled to have my essay, written from the perspective of a woman living with Li Fraumeni syndrome, shortlisted, making the experience a truly rewarding and unexpected delight.”
Li–Fraumeni syndrome (LFS) is a rare and genetic condition that increases the risk of developing various cancers, often at young ages and multiple times in one’s lifetime.
LFS is caused by mutations in the TP53 gene, which encodes a tumor suppressor protein called p53.
This protein normally prevents the accumulation of genomic mutations that can lead to cancer, but when TP53 is mutated, p53 loses its function and allows cells to grow and divide uncontrollably, forming tumors.
This essay contains my personal experience of living with LFS, the sources of information and knowledge that helped me understand my condition, and the role of medical professionals in helping me cope with its challenges.
I was diagnosed with LFS when I was 15 years old, after I developed a soft tissue sarcoma in my left thigh.
I underwent surgery to remove the tumor, followed by chemotherapy and radiation therapy to kill any remaining cancer cells.
The treatment was successful, but it left me with a large scar on my leg and a lot of pain and fatigue. A few months later, I learned that my sarcoma was not a random occurrence, but a manifestation of a genetic condition that runs in my family.
My mother had breast cancer when she was 32 years old, and she died when I was 10. My grandfather had brain tumor when he was 40 years old, and he died when I was 12. My aunt had leukemia when she was 25 years old, and she survived after a bone marrow transplant.
All of them had LFS, a condition that predisposes individuals to a wide range of cancers.
LFS is caused by mutations in the TP53 gene, which encodes a tumor suppressor protein called p53 [1]. This protein normally regulates the cell cycle and prevents the accumulation of genomic mutations that can lead to cancer.
However, when TP53 is mutated, p53 loses its function and allows cells to grow and divide uncontrollably, forming tumors [2]. LFS affects about 5 in 20,000 families worldwide and is inherited in an autosomal dominant manner, meaning that one copy of the mutated gene is enough to cause the syndrome [1].
LFS is associated with more than a dozen types of cancers, but nine of them are considered core cancers because they are commonly seen in people with LFS. They include soft tissue sarcoma, osteosarcoma, breast cancer, brain tumor, adrenocortical carcinoma, leukemia, lymphoma, melanoma and lung cancer [1].
The average age of diagnosis for LFS–related cancers is 33 years.
When I heard these statistics, I felt scared, angry, and hopeless. I wondered why I had to inherit this condition from my mother, why I had to suffer from this disease that has no cure, why I had to live with this constant fear of developing another cancer or dying young.
I felt alone and isolated from my friends and peers who did not understand what I was going through.
However, over time, I learned to accept my condition and cope with its challenges. I realized that I was not alone in this journey, but there were many sources of information that helped me understand my condition better and supported me along the way.
Thank you for reading this essay.
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