Sunday, September 15, 2013

History ...

Knowledge of Fatal Familial Insomnia (FFI) is recent — discovered only in the early 1990’s and the credit goes to Dr. Ignazio Roiter for his role in uncovering this very rare disease. Dr. Ignazio Roiter is a specialist in internal medicine & endocrinology and is head physician of the Treviso Hospital, Italy.

The family of Dr. Ignazio’s wife Elisabetta carries the fatal gene. Elisabetta has been losing a family member every 3 years. These inexplicable deaths after months of sleeplessness drew the attention of Bologna experts. It was at a meeting held in the Dr. Ignazio’ living room where Elisabetta, Dr. Ignazio and Bologna researchers agreed to call the disease Fatal Familial Insomnia (FFI). Due to the series of deaths their family went through, Dr. Ignazio and Elisabetta made it their mission to create a detailed family tree. Centuries of records of births and deaths of people in a parish in Veneto, northern Italy provided the basic information for the family tree project. However, it took a special skill to gain access to parish records. Ignazio who plays the organ as a hobby, performed for the aged priest of the parish church. In gratitude of the musical treat, the priest gave Ignazio access to the parish’s old records. Ignazio traced the appearance of fatal familial insomnia (FFI) in Elisabetta’s family in the 17th century. 250 years ago, a wealthy Venetian doctor carried the genetic mutation. He was referred to as patient zero, the first known case.

This man suffered from insomnia for more than a year and spent his last months paralyzed by exhaustion until he died in 1765. This started a chain and his descendants were recorded to have experienced never-ending sleeplessness in the 18th and 19th century — eventually succumbing to varied side effects as heart problems, encephalitis and pellagra. The doctor’s descendants showed symptoms of sweating, fever, hallucinations, insomnia and, in one case of possession.

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