Genetic Frontiers: Costa Rica’s Stride into Predictive Oncology
In the lush landscapes of Costa Rica, not only biodiversity but also genetic diversity is revealing astonishing insights. The country, often celebrated for its rich flora and fauna, is now making headlines in the field of genetic medicine – a pioneering domain that’s as cutting-edge as it gets. Here’s how Costa Rica is navigating the complex labyrinth of genetic predisposition to cancer, one gene at a time.
The Groundbreaking Study: A Genetic Deep Dive
Imagine a study so profound it unearths hidden risks lurking in your DNA. That’s exactly what happened in Costa Rica when a groundbreaking study involving 1,100 families shed light on genetic mutations predisposing individuals to cancer. A whopping 0.64% of these families carried not one, but two menacing mutations, catapulting their cancer risk to alarmingly high levels.
The Unveiling: Families Face Their Genetic Destiny
For seven families, this revelation was a double-edged sword. On one hand, it was a daunting realization of their genetic vulnerabilities. On the other, it was an opportunity to leap into proactive health management. These families, now equipped with knowledge of their genetic makeup, are slated for more frequent and comprehensive medical evaluations. Knowledge, after all, is power – especially when it comes to outsmarting cancer.
Elizabeth’s Tale: Confronting Genetic Fate with Courage
Enter Elizabeth Meléndez Garbanzo, a warrior in her own right. Back in 2018, she battled breast cancer with the might of surgeries, chemotherapy, and radiotherapy. Little did she know, her genetic blueprint held clues to her ordeal. Tests revealed that she had inherited the BRCA2 gene mutation from her father and alterations in the TP53 gene from her mother, both significantly heightening her cancer risk.
Faced with this stark revelation, Elizabeth made bold decisions. She underwent a bilateral mastectomy and had her ovaries removed – drastic but potentially life-saving measures.
The Diagnostic Odyssey: Navigating a Maze of Medical Procedures
Elizabeth’s journey didn’t end there. To keep cancer at bay, she’s to undergo an annual colonoscopy, gastroscopy, and full body MRI scans every two years. But here’s the catch: the MRI Center’s inclusion criteria haven’t caught up with the unique needs of patients with such genetic conditions. And in the private sector, the specific resonances and contrasts needed for preventive imaging elude her.
Kattia’s Struggle: Fighting for Proactive Care
Another brave soul in this narrative is Kattia Abarca. Like Elizabeth, Kattia carries the BRCA2 gene mutation. Her proactive quest for a mastectomy at Max Peralta Hospital in Cartago hit a roadblock – the hospital prioritized those already battling cancer. Determined, she filed a complaint, which eventually led to the scheduling of her surgery.
A Unified Front at Calderón Guardia Hospital
For patients like Elizabeth and Kattia, Calderón Guardia Hospital has become a bastion of hope and care. Whenever possible, they are treated here and provided with a diagnostic report for their primary care physicians, outlining the necessary exams and their frequency.
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