Sunday, September 09, 2007

Terrible Disease of the Month Club

To kick off year two of graduate school in style, I thought I would make you all members of the Terrible Disease of the Month Club. I'm enrolled in a Human Genetics course and while familiarizing myself with the Online Mendelian Inheritance in Man [OMIM] database, I stumbled across this little gemstone:

Fatal Familial Insomnia is September's Terrible Disease!

That's the OMIM entry, which is neatly and less-accurately summarized by Wikipedia. Skip right to "Presentation" if you want-- it's what I did.

So if you find yourself at age 45 with a complete inability to sleep, you probably did something so heinous in a past life that, at the moment your parents' gametes fused, the Mutation Fairy gave your genome the middle finger and waved her wand at aspartic acid 178 in your copy of the PRNP gene, changing it to an asparagine residue. Granted, this change would only result in a disease phenotype if the amino acid residue in position 129 happened to be a methionine-- but let's assume you did something extremely heinous in that past life.

Actually, there is no correlation between how shitty you acted in a past life and your chances of harboring this rare mutation, but I'm sure sufferers of FFI do a lot of apologizing to no one in particular in those last six months.

My favorite part of the Wikipedia entry is the "Treatment" section because it is absolutely 100% grim. Let's highlight all the words that contribute to the excruciatingly hopeless tone of this little paragraph:

There is no cure or treatment for FFI; hopes rest on the so far unsuccessful gene therapy. Sleeping pills have no effect. While it is not currently possible to reverse the underlying illness, there is some evidence that treatment modalities that focus upon the symptoms can improve quality of life.

Big sigh.

I'm curious about these "treatment modalities that focus upon the symptoms" and what kind of improvement they could actually make in the life of a deranged middle-aged person who hasn't been able to sleep for six months and is definitely going to die. Like, are we talking about upping their Netflix membership plan to the 8-at-a-time unlimited option? Getting rid of their bed to make space for one of those mats with dance steps printed on it? Sun lamps? Moon lamps? If it were me, I would ask to be locked in a room far from my friends and loved ones and get into some heavy duty drug experimentation. I would make the best Christmas cards.

I would also make a really terrible Genetic Counselor.


jenovus said...

As far as vaguely-defined "treatment modalities," I thought of 1930's-era thugs hired specifically to knock the patient out with a sap or blackjack. I guess losing consciousness is not exactly the same as REM sleep, though.

spiffae said...

40 families worldwide? Let's just take those families, "fly them to a research facility" (read: drop them out of an airplane into a volcano) and be done with it. The world will be a better, and sleepier, place.