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When a family finally gets an answer about an ultra-rare disease
STAT • • health
Key Points:
- Miranda Pappas recounts her family's multi-generational struggle with an unnamed rare disease, later identified as FENIB, an ultra-rare genetic neurodegenerative disorder causing progressive dementia and seizures.
- Despite decades of medical visits and research, her family was never informed about the disease's name or the existing studies, highlighting a gap between medical research and patient communication.
- Pappas, a research methodologist, used her expertise combined with AI tools to uncover the disease's identity after years of resignation to medical uncertainty.
- The discovery of FENIB provided clarity and a sense of inheritance with a name, allowing her to inform her children and break the cycle of unnamed illness in her family.
- Her forthcoming memoir, "Naming It," explores the emotional and systemic challenges faced by families living with rare, underresearched conditions.
