Friday, November 25, 2011

Fatal Familial Insomnia by Paul Stevens

Fatal Familial Insomnia is an extremely rare disease that, at present, affects only about 45 families. Fatal Familial Insomnia is almost always inherited, and if one of the parents is a carrier of the mutated gene that causes this brain disease, the child has a 50% chance of developing Fatal Familial Insomnia.

While most of the cases do involve inheriting the mutated gene, there are some instances of a patient developing Fatal Familial Insomnia without having a parent who has the mutated gene.

There is no way to test for the disease, and it will typically not begin to manifest itself until the patient is an adult. The average age when symptoms begin is 50, but some begin to show signs of Fatal Familial Insomnia when they are as young as 30. Sometimes, the disease will begin to progress after a woman has given birth.

Once the disease begins to show symptoms, the patient will usually die within 3 years, although some die much more quickly.

There are four stages to Fatal Familial Insomnia.

1. The disease may begin with mild twitching and what feels like muscle spasms. Insomnia will set in soon after. The patient often has panic attack and develops phobias that were not present before.

2. In the second stage of Fatal Familial Insomnia, the patient continues to suffer with the above symptoms and also begins to hallucinate.

3. During stage three, the patient's insomnia increases to the point that they totally lack the ability to sleep.

4. Finally, the patient will develop dementia, become unresponsive and, eventually, pass away.

Sometimes, the disease is misdiagnosed. One man was diagnosed with a mental disorder when he suddenly became unable to speak. Some are diagnosed with a common condition called Restless Leg Syndrome when they are actually experiencing the earliest symptoms of Fatal Familial Insomnia.

Because the disease is inherited much more often than not, the best line of defense against misdiagnosis is the knowledge that one of your parents has or had the mutated gene.

Sadly, at this time a correct diagnosis will not create a better prognosis. Until a successful treatment is found, Fatal Familial Insomnia is fatal in every case.

While some studies have been conducted using mice, there is at this time no treatment for Fatal Familial Insomnia. There was some measure of success in slowing the advancing of the disease in mice, but at this time there is no successful treatment for humans.

Once a patient is diagnosed, it is a matter of treating the symptoms and, in the latter stages of the disease, keeping them as comfortable as possible.