Saturday, September 21, 2013

Stages & Effects

There are four stages of Fatal Familial disorder (FFI):

Stage One: (typically 4 months): the 1st stage includes sudden onset of sleepiness and insomnia resulting in phobias, paranoia and panic attacks.

Stage Two: (typically 5 months): During the 2nd stage hallucinations and panic attacks become increasingly apparent.

Stage Three: (typically 3 months or more): This stage includes the absolute inability to sleep along with rapid weight loss and diminished cognitive performance.

Stage Four: (Typically lasts for 6 months): The end stage includes ‘dementia’. The patient becomes mute and unresponsive over the course of 6 months after which death occurs.

Writing in a 2006 issue of the Medscape General Medicine journal, Dr. Joyce Schenkein outlined the etiology and characteristics of FFI. She noted that it often begins in middle age (average age of onset being 50 years) and has no cure (even ‘gene therapy has been unsuccessful to date). Unfortunately, the prognosis following initial diagnosis is poor with FFI sufferers’ only living for an average of about a year and a half (with Dr. Schenkein noting that survival ranged from 7 to 36 months from diagnosis of FFI). It originates in the form of unexplained sleeplessness before rapidly developing into a fatal insomnia. 

Further Reading:
Schenkein, J. (2006). Self-management of fatal familial insomnia. Part 1: What Is FFI? Medscape General Medicine, 8(3), 65.
Schenkein, J. & Montagna, P (2006). Self-management of fatal familial insomnia. Part 2: Case report. Medscape General Medicine, 8(3), 66.

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.

Wednesday, September 11, 2013

What is Fatal Familial Insomnia (FFI)?

Fatal Familial Insomnia (FFI) is an extremely rare inherited autosomal dominant disorder of brain — most often caused by a protein mutation passed on through families. But FFI can also develop spontaneously with a non-inherited mutation variant called Sporadic Fatal Insomnia (sFI).

FFI is clinically characterized by insomnia with/without a diurnal dreaming state, hallucinations, delirium and dysautonomia preceding motor and connective deterioration.

The average age of onset in FFI is 50 but can range from 18-60 years.

Worldwide there are only 40 families which have been found to carry the disease, affecting about 100 people altogether.

If the parent has the mutated gene there will be 50% chance that the child will also inherit the disease.

Monday, September 9, 2013

A Life without Dream !!!!!

Imagine what a nightmare it would be to never have a nightmare!!!

Imagine a life without a dream!!!

Imagine to be banished forever from the topsy-turvy realm of sleep!!!

One day you just wake up and never falls asleep again — tortured in a twilight world of perpetual insomnia — lying in the bed; exhausted but with eyes wide open — listing to the groans and whispers of the night — sleepless, until death mercifully claim you.

Sound like a Gothic Chiller???

Sleep is a mystery yet to be solved. Science still does not know why and how we do it. Now pioneering research takes us insight the sleeping brain and re examines a mind – forbidden to rest/which prohibit rest— Insomnia with a fatal twist — lack of sleep will kill you but science to figure out why???

We might not ever heard of this very rare, real genetic disorder — Fatal Familial Insomnia (FFI) — without the medical detective work of an Italian family, which in turn was stalked for centuries with a terrifying fate.