Ruby-Jo Sneed’s life took an unexpected turn at the age of twelve when genetic testing revealed she carried a rare chromosome deletion of the CDKN2A gene. This gene plays a crucial role in producing tumor-suppressing proteins, and its deletion significantly increased her risk of developing tumors and melanoma. While the news initially seemed like a minor inconvenience, the true implications of this genetic predisposition unfolded over the next few years, transforming Ruby-Jo’s teenage years into a battle against recurring health challenges.
Between the ages of fifteen and eighteen, Ruby-Jo faced a daunting series of diagnoses and surgeries. Her ordeal began with the discovery of a melanoma lesion just before her sixteenth birthday. While awaiting biopsy results, a routine MRI scan revealed a brain tumor. The confluence of these two diagnoses, occurring within a month of each other, marked a stark shift from the carefree days of prom and the anticipation of her final year of secondary school. The emotional toll was immense, leaving Ruby-Jo grappling with fear and uncertainty as she navigated the complexities of her health.
The subsequent surgical removal of the brain tumor brought a mix of relief and trauma. While the tumor proved to be benign, the experience itself was deeply unsettling for the teenager. Just as she began to look forward to college life, another melanoma diagnosis emerged, requiring further tissue removal. Simultaneously, her younger brother, Bailey, received a stage 1 melanoma diagnosis, highlighting the pervasive nature of their shared genetic vulnerability.
Further complications arose during a routine MRI checkup in April 2024, revealing another brain tumor, this time located in the memory center of her brain. The location of the tumor added a new layer of anxiety, given the potential impact on cognitive function. Initially, radiotherapy was considered, but due to the chromosome deletion, it was deemed too risky, increasing the likelihood of further tumor development. Forced to confront the possibility of surgery once again, Ruby-Jo drew strength from her previous experience, opting for the procedure despite the inherent risks. The tumor, thankfully, was again benign.
Ruby-Jo’s journey has been defined by resilience in the face of adversity. Despite the emotional and physical challenges, she channeled her energy into raising funds for The Brain Tumour Charity through bake sales. She also harbors a dream of writing a book about her experiences, aiming to share her story and raise awareness about her rare genetic disorder. Living with the constant awareness of increased risk, Ruby-Jo exemplifies courage and determination as she navigates the complexities of her genetic inheritance.
The family’s history with cancer and tumors paints a poignant picture of the impact of inherited genetic mutations. Ruby-Jo’s grandmother had skin cancer, and her aunt was diagnosed with a benign brain tumor at the age of six. Tragically, her aunt’s son also faced a similar path, battling both a brain tumor and skin cancer before succumbing to leukemia at the age of fourteen. The recurring pattern of these diagnoses within the family underscored the genetic link, eventually leading to the genetic testing that revealed Ruby-Jo and her brother’s shared predisposition. This family history highlights the significance of genetic testing in identifying and managing inherited cancer risks.
Ruby-Jo’s ongoing battle with recurring tumors and melanoma underscores the challenges faced by individuals with CDKN2A deletions. Her story serves as a testament to the importance of regular monitoring, early detection, and proactive management of this rare genetic disorder. While the future remains uncertain, Ruby-Jo’s determination to live a fulfilling life despite the looming threat of recurrence inspires hope and resilience. Her desire to share her story through writing demonstrates a powerful commitment to raising awareness and supporting others facing similar challenges. Ruby-Jo’s journey is a testament to the strength of the human spirit in the face of adversity.
