When Stacey Martin received her mother’s stage four uterine cancer diagnosis, she never imagined it would lead to discovering her own genetic time bomb. After her mother tested positive for a CDH1 germline mutation during treatment at Mayo Clinic, Stacey faced a 50% chance of carrying the same variant that dramatically increases gastric cancer risk up to 80%.
This episode follows Stacey’s incredible journey of trusting her instincts at every critical juncture – from advocating for her mother’s care, to getting genetic testing herself, and ultimately making the life-saving decision to undergo preventative total gastrectomy. Her brave choice paid off when pathology revealed 17 hidden cancer spots that would have remained undetected through standard surveillance.
Stacey shares practical insights about navigating genetic counseling, understanding CDH1-related hereditary diffuse gastric cancer, and building the support systems necessary for major medical decisions. Her story demonstrates how genetic testing and preventative surgery can transform a potential death sentence into empowered survival.
Key Takeaways:
• CDH1 mutations increase lifetime gastric cancer risk to 70-80% and lobular breast cancer risk to 67%
• Preventative total gastrectomy can be life-saving when cancer is undetectable through surveillance
• Genetic testing requires careful planning around insurance coverage and support systems
• Patient advocacy and seeking centers of excellence are crucial for rare genetic conditions
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