Personal essay: naming a family's inherited neurological disease after 50 years ends a diagnostic odyssey
A first-person account published in Stat News describes how one family's search for a diagnosis for a hereditary neurological condition — referred to only as 'it' for decades — ultimately led to identification of a named rare disease.
Stat News has published a personal essay by Miranda Pappas describing her family's five-decade experience with an undiagnosed inherited neurological disease. For generations, affected family members were told little by clinicians, and the condition was referred to within the family by the informal designation "it" — reflecting both medical uncertainty and the psychological weight of living without a name for what was affecting them.
The essay recounts how Pappas eventually identified a named diagnosis, providing not only an explanation but also connection to others living with the same condition. The piece illustrates the experience sometimes described in clinical genetics literature as the "diagnostic odyssey" — the often lengthy and emotionally taxing journey towards a diagnosis for a rare or unrecognised inherited disease.
The specific disease described is FENIB (familial encephalopathy with neuroserpin inclusion bodies), a rare autosomal dominant condition caused by mutations in the SERPINI1 gene, which encodes neuroserpin. FENIB is characterised by progressive dementia and sometimes epilepsy, with onset typically in adulthood. It belongs to the broader family of serpin conformational diseases, in which misfolded protein accumulates within cells.
The essay is an opinion piece and does not present new research data. It is published by Stat News and is relevant primarily as an illustration of the lived experience of rare inherited disease and the significance of diagnostic resolution for affected individuals and families.
Plain-language version
For patients, families, and general readers. Educational only — not medical advice.
Miranda Pappas has written an essay for Stat News about her family's fifty-year wait for a name for the inherited neurological disease affecting multiple family members. For decades, doctors were unable to offer a clear explanation, and the family simply called the condition "it".
Pappas eventually discovered that the disease has a name: FENIB, short for familial encephalopathy with neuroserpin inclusion bodies. It is a very rare inherited condition caused by a fault in a gene called SERPINI1. The fault leads to an abnormal protein building up in brain cells over time, eventually causing problems with memory and thinking.
Having a name for the condition meant the family could connect with researchers and others living with the same disease — something that had been impossible for fifty years. Pappas's account reflects an experience shared by many families living with rare inherited conditions: the long and often exhausting search for a diagnosis, and what it means when one is finally found.
This is an educational summary, not medical advice. If anything here raises questions for you, please speak with your GP or a clinical professional.
Sources
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Primary source Stat News · 2026-10-22Opinion: The inherited disease my family called 'it' had a name, which changed everything