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Carolyn and Cheryl are sisters who have lived with a mortal secret for years. A genetic mutation hangs on their family tree like poison fruit.
It killed their grandfather and their uncle and, in 1999, revealed itself in their mom, Barbara.
"I can remember saying, 'Mom, what's wrong? Mom, why can't you speak?'" said Carolyn.
Barbara couldn't speak because she couldn't sleep — at all. Inside Barbara's brain, a genetic trip wire had been crossed, and in a matter of months, she went from being a vigorous 52-year-old woman to a woman in a coma, emerging only for a few days at the very end of her life.
Medical Mystery: When Sleep Doesn't Come, Death Does - ABC News
Seeded on Tue Feb 2, 2010 11:21 AM EST
Article Source: ABC News- Enjoy this article? Help vote it up the 'Vine.
- Public Discussion (14)
I think I'm going to dedicate one article at least once a month to discussing a rare genetic disorder. This is my first, and I chose to do it on Fatal Familial Insomnia, or FFI. FFI is a disorder of the brain, in which the thalamus (the region of your brain responsible for regulating sleep!) is affected by excess mutated proteins, prions, which accumulate and eventually rob a person of the ability to sleep (for sufferers, sometimes for months at a time). This eventually leads to the body not being able to shut down for restorative sleep, and the person moves through four stages, namely:
- The patient suffers increasing insomnia, resulting in panic attacks and phobias. This stage lasts for about four months.
- Hallucinations and panic attacks become noticeable, continuing for about five months.
- Complete inability to sleep is followed by rapid loss of weight. This lasts for about three months.
- Dementia, turning unresponsive or mute over the course of six months. This is the final progression of the disease, and the patient will subsequently die.
What's most interesting about this disorder is that it affects people after the age of thirty, especially women who are past their child-bearing years--the average sufferer is most often in his or her 50s. As such, many procreate and are unaware that their progeny have a 50% chance of inheriting the mutation--because they themselves are unaware of being carriers.
With those odds, and in our modern era of genetic testing--would you or would you not want to know if you carry a genetic mutation that could kill you, especially if there's nothing you can do about it?
And to think that I ever considered sleep overrated... If there is one disease I would want genetic testing to find a cure for, FFI would rank pretty much up there. I can only imagine that this would be a rather miserable way to die.
- 4 votes
#1 - Tue Feb 2, 2010 11:34 AM ESTWith those odds, and in our modern era of genetic testing--would you or would you not want to know if you carry a genetic mutation that could kill you, especially if there's nothing you can do about it?
Not only would I want to know, but I would want to know so that I would not ever give birth to a human being condemned to suffer such a terrible death, and never pass this disease on to future generations.
- 3 votes
As the woman in the article says, we all die of something. I would rather have 50 productive years than not live at all. I'm almost 49 by the way. There are a number of genetic diseases so life is already a crap shoot. Hopefully we can make more progress and give our children a better chance for a healthier lives.
The article says that they have discovered prions created through genetic mutation.
Just before his death, Silvano made a remarkable and selfless offer, bequething his brain to researchers, which finally opened a window into the mystery of FFI.
Microscopic views showed that healthy proteins misfolded, triggered by genetic mutations, creating what doctors call prions. These abnormal proteins build up in the brain, forming clumps that destroy nerve cells, eventually leaving spongelike holes in the brain. Mad cow disease is also a prion disease.
Mad Cow disease is the common name of Bovine Spongiform Encephalopathy, a disease which is transmittable, more than likely through ingestion of contaminated food. It manifests itself by apparent confusion, lack of coordination and eventual collapse and death. The brain on examination is riddled with holes, similar to a sponge.
Though cows are naturally herbivores, one of the disturbing commercial trends has become to feed them rendered remains of "downed" animals, or animals who for whatever reason collapse or are unable to stand on their own before slaughter. If the animal has BSE it can then infect others who consume its remains in the form of meat and bone meal.
There are many other animals who have these prions. Sheep, where the disease is known as Scrapie and has been evident for at least two hundred years, appear to become infected when they eat placenta in pastures.
Among some on the list are:
Goats
Pigs
Mink
Mule Deer
Elk
Mice
Monkeys
Felines- there have been a number of exotic and domestic cats in the UK.
Creutzfeldt-Jakob disease is the most common form found in humans. It is similar to FFI except for the insomnia as far as I can tell from the article.
Kuru of the Fore people in New Guinea was caused by ritualized cannibalism. It was first noticed in the early 1900's, was started to be investigated in the 1950's. At first thought to be a genetic disease or a slow virus it was eventually found to be caused by prions.
Though at one time it may have had similar origins as FFI, through their cannibalistic rituals they increased the amount of the population that was exposed and infected. Through much research and support they were able to convince the Fore to abandon the practice and the last I heard the disease has virtually disappeared.
Scary stuff. I've found it fascinating to learn about this over the past 15 years or so but also gave up eating hamburger. I eat a steak or two every couple of years but other than that no red meat.
There is quit a bit of information out there but also those who deny it's possible for a prion to transmit and grow they way they do. When I first started to study about it they didn't even know what to call them.
If you think of a bacteria being the size of an Ocean Liner, a virus being the size of a house cat on the deck, a prion would be about the size of a flea on the cat. They knew they existed long before they could see them.
#2 - Tue Feb 2, 2010 7:20 PM ESTI should mention, this particular disease is somewhat related to mad cow disease, but I haven't been able to find an article that makes a particular link to mad cow disease per se.
- 1 vote
Prions.
That's the thing that I was trying to point out. Up until I had read this article everything I had ever read about them implied that prions were pathogens, like a virus. The article describes how a genetic mutation causes a protein to be misfolded and becomes a prion. Meaning that the source could be our own brains instead of something that infects our brains. The key being a genetic cause.
That makes 4 human prion cause diseases I've heard of. All rare or isolated like FFI seeming to run in a particular family.
"Microscopic views showed that healthy proteins misfolded, triggered by genetic mutations,...."
Fascinating and terrifying at the same time.
I've also done a lot of studies on other pathogens like Ebola. They still don't know where that comes from but it's about the scariest thing on the planet. Strange that something so small could be so dangerous.
- 2 votes
Say: What's scary to me is that I ever considered sleep overrated. The human body is a mysterious machine, but I am grateful to anyone who donates their body to science so that advances can be made to, if not cure, alleviate horror illnesses such as this one.
- 1 vote
Lkessler
Good seed by the way, thanks for the info. It would be great for you to write them on a regular basis.
- 1 vote
#3 - Tue Feb 2, 2010 7:26 PM ESTMany with bi-polar disorder suffer from euphoric episodes. We have big bursts of nervous energy and cannot sleep for days at a time. We also do stupid things because our view of life is so positive--we rack of credit card bills while on wild shopping binges. When I had them--I would focus on a home improvement projects. I ripped up the ugly green carpet in my trailer and laid down tile--in 4 rooms totalling almost 1000 square feet--in 4 days--no sleep. By the time that episode ended I had great looking floors--and I slept 10 hours and felt like a truck had hit me. I could not imagine not being able to sleep for 6 months.
I wonder if bi-polar disorder brains have any similarities to the brains of these victims of genetic disorder? I believe bi-polar disorder is genetic--could there be prions in bi-polar brains too? I am probably way off base--but I wonder if someone else sees similarities?
FYI--I take 2 great drugs for my bi-polar and I rarely get so hyped up that I go sleepless for days--nor do I have the big bad down trips--that tempt me to suicide. I have been "balanced" for almost 5 years.
Thanks for the article--fascinating food for thought.
- 2 votes
#4 - Tue Feb 2, 2010 9:56 PM ESTWow, a lot of good information here and very interesting to read. Thanks for posting this and thanks to all who replied. I enjoy learning about these kind of things.
As far as wanting to know if I carry any genetic mutations that may kill me, yes I'd want to know. Not so much because I want to know if there's anything that could be done if I do have anything but the results of the test would heavily influence my choice about having kids. In fact, because I don't know what may be lurking in my family tree due to the fact that I don't really have contact with my father, I'm already planning on getting a genetics test as soon as I can. Plus, I also plan on having the could-be father of my kids get a test just to be sure.
This may sound like overkill but honestly we have the ability to look for these things so why shouldn't we? When it comes to a person's quality of life I'd rather have as much information on my side so that I may make the best informed decision possible. Just my opinion though.
- 1 vote
#6 - Wed Feb 3, 2010 9:48 AM ESTAbsolutely fascinating article! I'm looking forward to your series of articles on rare diseases... this one was a humdinger! Thanks for posting something so interesting!
- 1 vote
#7 - Mon Feb 8, 2010 8:35 PM ESTI think I believe more along the lines one of the sisters expressed, that to not procreate and enjoy the privilege of having children, grandchildren, etc (individuals who would (likely as not) experience whole, normal, healthy lives until the onset of a particular condition (or disease - individuals who may or may not make some valuable contribution to the human race possible over the course of even an abbreviated lifespan) to bea an undeserved and uncalled for form of self-deprivation.
It's sort of like saying, "Were I to bump my head it seems only logical for me to cut it off so it doesn't happen again!
Frankly, that whole premise smells odiously akin to the Nazi idea of creating the perfect Aryan race by either sterilizing and or killing off people "infected" with inferior genes!
NO one should be able to dictate the morality of having or not having offspring based on what may or may not occur to same, even if it meant that the individual might not live to adulthood.
Why should I be deprived of children because of a "possibility ???
It's "possible" I or my child (likewise, you or your child) may be involved in some common household accident; like falling in the tub and suffering a massive brain hemorrhage resulting in death.
Life is full of possibilities (even probabilities) but few of these are ever certainties!
- 1 vote
#8 - Sat Feb 13, 2010 7:44 AM ESTI agree with your points, Mic, but honestly, I'd want to be prepared if something like that was going to happen to me. I wouldn't mind knowing that I was going to die a lot sooner than expected (heck, we're all going to get there eventually!) but being prepared counts for a lot in my book...
But I'm with you, very few things in life are certain... Thanks for your thoughts! :)
- 2 votes
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