Deadly Insomnia Diagnosis Turns Patient Into Researcher

Is a Genetic Mutation The Reason for Relapse in Prostate Cancer?
Deadly Insomnia Diagnosis Turns Patient Into Researcher

Fatal familial insomnia (FFI) is an extremely rare genetic prion disease in which the condition progresses from difficulty sleeping to total insomnia with physician and mental deterioration – and often leads to death within a year of onset of symptoms. Sonia Vallabh witnessed the fast deterioration of her mother's health due to FFI over mere months before she passed away at age 52. Vallabh's mother's illness was unknown until a post-mortem genetic test revealed that she was positive for a mutation in the gene PRNP that is known to cause FFI; an autopsy concluded that FFI was a possible cause of death.

In prion diseases like FFI and bovine spongiform encephalopathy (aka Mad Cow Disease), the abnormally mutated protein prions trigger normal proteins to fold abnormally and destroy brain cells while leaving the brain with holes. The average age of onset of FFI is 50 and children of a parent with FFI have a 50% chance of inheriting the mutated PRNP gene.

After her mother's death, Vallabh was screened and tested positive for the genetic mutation. She and her husband Eric Minikel are now enrolled in a doctoral program in Biological and Biomedical Sciences at Harvard Medical School to study prion diseases like FFI and explore potential treatments. Vallabh and Minikel also founded the research organization Prion Alliance to raise funds for prion-focused studies. Vallabh remains hopeful that a breakthrough treatment or cure will be discovered before her FFI symptoms appear.

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