Prion disease no.1

Jesus, even when I come up with a way to make my life easier I some how manage to fuck it up. Procrastination or out right laziness, either way this post should have come days ago.

Now, I'm going to be real lazy and just outline a bit about a disease that effects the most interesting organ in the body - the brain. At this point I feel I should detail why I find the brain so fascinating but, as I said, I'm going to be lazy and leave that for some other time.

The disease is called Fatal Familial Insomnia. It's a super rare autosomal (a non-sex chromosome) dominant inherited prion disease. A prion is a infectious agent born form mutated protein. Another example of a prion disease would be Creutzfeldt–Jakob disease (CJD) also know as 'mad-cow disease'.

In Fatal Familial Insomnia the thalamus part of the brain gets pretty badly fucked up and degenerates in a spectacular fashion. The thalamus is responsible for many functions but it plays a key role in sleep and wakefulness.
As the disease goes to town on this part of the brain the patient's progression into complete sleeplessness is untreatable, and ultimately fatal.

Doesn't sound like a nice way to go if you, like me, love your sleep. Also, as your body is deprived of sleep some truly horrible and strange things begin to happen. I'll go into that in a second...

The gene responsible has been found in only 50 families world wide since the disease was discovered by an Italian doctor, Ignazio Roiter, in 1974. He found a family where two women had appeared to die from insomnia. When Ignazio (legend name) looked back through the family medical records he found a history of insomnia related death. When another member of the family fell ill in 1984 Ignazio studied the patients deterioration and after his inevitable and no doubt horrible death the patients brain was flown to the US for study.

As I said before, the body deprived of sleep doesn't just give up and die, it goes pretty mental. Here's how the disease presents.

The age of onset of symptoms varies a bit, between 30 to 60 – average of 50. It seems though that the disease will usually onset in the later years – after childbirth.
You might think, given the description of the disease, death comes relatively quickly. In fact, it takes between 7 and 36 months.

It breaks down into four stages.

In the fist stage you begin to suffer from increasing insomnia. This leads to panic attacks, paranoia and new phobias. This will last for around 4 months.

Next, comes the insomnia induced hallucinations as your panic attacks become much more noticeable. This lasts around 5 months.

Then comes the complete inability to sleep, followed by rapid loss of weight. This lasts for about 3 months. (I need to look into this more as a 'complete inability to sleep' can not last for 3 weeks let alone 3 months)

Finally you succumb to dementia during which the you become unresponsive or mute over the course of 6 months. This is the final progression of the disease, and you will subsequently die.

All in all a pretty horrible way to go.

Now, like I said this is an insanely rare disease and the chances of you having it are are so small they're up there with me featuring on the cover of a Men's Health magazine.