Fatal Familial Insomnia: No Sleep And Then You Die
Posted on 11. Apr, 2008 by Kerry Friesen, M.D. in Neuro-Strange But True
Ok, relax! You DON’T have this. Only forty maybe fifty families world-wide are affected by this rare, I mean really rare, autosomal dominant genetic disorder. Genes inherited in an autosomal dominant fashion mean that offspring have a 50/50 chance of chance of being stricken with the disease. With Fatal Familial Insomnia (FFI), once the genetic switch has been flipped (usually at midlife) there is no turning back, no cure and no treatment. Sleepless night inexorably follows sleepless night. Finally, five to nine months later the afflicted lapse into an irreversible coma and die – sweet release. Sedatives, sleeping pills only make it worse and hasten the inevitable. Sominex just doesn’t cut it.
So why bother. Why waste valuable research money on such an incredibly rare disease anyway?Because FFI is one of a handful of prion-mediated diseases. Prions are proteinaceous infectious particles lacking nucleic acid. Generally speaking prions break all the rules regarding biological life forms as we know it. Nevertheless, they exist and native forms are found naturally in the brains of all mammals. A mutant prion however will replicate unchecked, decimating the brain in process. The end result is a brain filled with holes, sponge-like (spongiform) and demented.
Other prion-mediated diseases you may have heard of include:
Bovine-Spongiform Encephalopathy (Mad Cow)
Creutzfeld-Jakob Disease
v-CJD (variant Creutzfeld-Jakob Disease)
Scrapie
All of the prion-mediated diseases are characterized by a rapid onset of dementia and death. Cows get it (Mad Cow), sheep get it (Scrapie), we get it, (CJD, FFI).
Still, all of the above are exceedingly rare diseases and soon new high-tech, silicon nano-sensors that change vibrational frequency when prions bind will be available to detect Mad Cow disease before it shows up at the local meat market.
As it turns out, understanding how rogue prions cause disease may be the key to understanding all neurodegenerative disorders.
Cholesterol metabolism within the brain is carefully regulated and with very good reason. Cholesterol synthesis exerts exquisite control over cell membrane function and cell signaling (cell-to-cell communication). When prions are allowed to replicate unchecked, cell membrane function suffers and as a result the enzyme phospholipase A2 becomes hyperactive. Activated phospholipase A2 triggers a flood of inflammatory mediators with the conversion of arachidonic acid to leukotrienes.
Bingo, presto (stir and mix over a life-time) add massive amounts of damage due to neuroinflammation and you have the makings of Alzheimer’s disease, Parkinson’s disease, Multiple Sclerosis and a whole host of other dementias and neurodegenerative disorders.
Don’t let all of this keep you awake at night though! Here (finally I know), is the take-home message…
Get your cholesterol checked. Ask for a VAP test to measure all the parameters of cholesterol synthesis. Ask your doctor to measure a simple bio-marker for inflammation called hs-CRP and with your doctor’s permission, take 81 mg of aspirin a day. Feast daily on antioxidant and polyphenol-rich foods , sleep tight, manage your stress, and when the silicon-based nano-sensors become available, I’ll let you know.
If you enjoyed this post, make sure you subscribe to my RSS feed!22 Responses to “Fatal Familial Insomnia: No Sleep And Then You Die”
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Kerry Friesen, M.D.: Great question. Pesticides represent just one cau...
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treatment for parkinsons: How can pesticides be a cause when the disease was...
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Badger: Stress is a pretty big factor when it comes to ins...
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wesley @ social anxiety treatment: Thanks for the great post. Very informative info....
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Srid: I did develop insomnia a year back when I moved fr...
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sleep: Interesting....
Abram Bergen
12. Apr, 2008
Hi Dr. Friesen (Mennonite background?),
While I don’t know whether I am vulnerable to FFI, I am getting concerned about something else leading me towards insomnia. Though as yet undiagnosed, I believe I suffer from either Periodic Limb Movement and/or Restless Leg Syndrome — my knees, while I try to fall asleep, feel very itchy inside, an ‘itch’ only moderately relieved by tensing my leg muscles, walking around a bit, or stretching my legs. It is getting difficult to fall asleep and is disturbing my partner’s sleep as well. Do you have any familiarity with these conditions? Can you comment?
I enjoy reading your site, btw.
Abram Bergen’s last blog post..Extended Break from Reviewing
Kerry Friesen, M.D.
13. Apr, 2008
Hi Abram,
You almost certainly have Restless Leg Syndrome, however, Periodic Limb Movement is a related disorder and with one exception is treated essentially the same. PLM is associated with Obstructive Sleep Apnea. If you are at risk for OSA then that would be a good place to start from a treatment standpoint. For RLS, consider decreasing caffeine intake, start a stretching program and ask your doctor to measure a serum ferritin level. Iron deficiency is sometimes a treatable cause of RLS. Mirapex is the standard treatment for RLS and while it affords immediate relief, there are side-effects to watch out for. And yes, Friesen’s have a long Mennonite history. Thanks for the kind words and do come back and visit!
Abram Bergen
13. Apr, 2008
Thanks for the response, as also for your comment on my litblog’s post about old books and fungus…
I’m quite certain I don’t have OSA, though I’ve certainly heard about it (I manage truck drivers, some of whom have it), nor am I anemic (levels are always okay for blood donation). From the little reading I’ve done on serum ferritin levels, however, I understand that low ferritin levels can be associated with RLS even in the absence of anemia. And I do consume too much caffeine, both via coffee and, more often, loose-leaf green teas.
Thanks again. I will certainly come back to visit.
Abram Bergen’s last blog post..Extended Break from Reviewing
Anup Dahiya
13. Apr, 2008
Nice topic and content.
More On Health-Better Information.Better Health
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fragileheart
13. Apr, 2008
This reminds me of the movie Fight Club where Ed Norton’s character thinks he’s going to die from Insomnia? Great post!
Thanks too for letting me advertise on your blog!
fragileheart’s last blog post..A stumbling we will go, hi ho the merry o, a stumbling we will go
Kerry Friesen, M.D.
14. Apr, 2008
Hi again!
Thanks for the kind comments. Everyday, ordinary, garden-variety insomnia doesn’t kill – it just makes you wish you were dead! A french proverb says it all…La nuit porte conseil” – with sleep, comes advice.
Alison Emmert
16. Apr, 2008
Very interesting article. However, I have CNS Hypersomnia and RLS… although my doctor thinks that the CNS Hypersomnia may be an onset of narcolepsy. I usually use the term narcolepsy because I have all the symptoms, and more people have heard of it than Hypersomnia. Anyway, I obviously have the exact opposite problem from any insomniac. I know that people say insomnia makes you wish you were dead, but honestly, having narcolepsy is like being dead all the time. Who knows how much life has passed me by while I’m asleep? I had a couple of questions… With Narcolepsy (or RLS or CNS Hypersomnia), is there anything that can be done with the nightmares/vivid dreams become too much? It has drastically altered my life this semester, as they are worse than usual. And another question… my brother, sister and I all have similar mental illness brought on at different stages in our lives. My sister also has MS, and I have my sleeping disorders. As they are both caused by the central nervous system, do you think there can be any genetic link? And if there is, is my brother in danger of one of the two or something else related?
I hope you can understand all that… I’m tired (big surprise!), so I’m not typing as well as I ought.
Love and Provigil,
~Alison*
Stephanie
17. Apr, 2008
This sounds like a miserable existence, especially with no known treatment or cure. It seems that getting into a regular meditative state or having hypnotherapy could help.
Ann-Kristin
21. Apr, 2008
Thanks for this great wake up call.I am to most super healthy(125lbs 16%body fat,exercise 2 hours pr.day,eat organic and vegetarian,(take krill oil B12,and other anti-oxidants )and therefore at low risk of anything.I did the VAP and hs-CRP,and to my Doctors shock had a high cholesterol(200) and high LP(a).He does not know what to do with the LP(a).Counting on your advice! My Grandma died of a stroke at age 71,my sister had a stroke at age 38,(5 years ago)both my parents are on high blood pressure meds since age 65.They are all thin,healthy ,very active and eat great.Your input is really appreciated,It could save my life.I hope others who are like me,run and get their tests done as well.
Love and life,
Ak
Kerry Friesen, M.D.
21. Apr, 2008
Hi Ak,
Great question. Most doctors are unsure of what to do with Lp(a). Lipoprotein (a) is a variant of LDL cholesterol and is common in women of Scandinavian descent. Lp(a) is an example of “molecular mimicry” in that it looks so much like plasminogen (an enzyme in our blood that dissolves clots) it is able to compete for binding sites thus preventing the body’s ability to prevent blood clots. Lp(a) levels greater than 30 mg/dl increase the risk for heart disease by 3 fold. You didn’t mention whether your hs-CRP level is normal or your LDL particle size. (Available with the VAP test). If you find yourself in this predicament do not despair. You are definitely on the right track from a prevention standpoint. Krill oil is an excellent addition, as is eating fish generally when Lp(a) is elevated. Niacin (slowly titrated) to 1000-1500 mg/day and proper hormone replacement therapy are part of the Berkley Heart Lab protocol that I adhere to strictly. Your family history is a bit concerning. Children 12 and up should also have Lp(a) levels evaluated and given proper diet instruction at the very least. Statins will lower LDL but have no effect on Lp(a). I hope these comments help–due to circumstances beyond my control I’m limited to these brief answers. Thanks for the kind comments and the thought provoking questions.
Ann-Kristin
21. Apr, 2008
Thanks a bunch.My Lp(a)is 19,hs-CRP is 0.2mg/L.I will have my parents and sister tested as well.(I have encouraged everyone I know to do the same)Your kind and quick response means a lot to me.I will share my families results if you do not mind.
Love and Life,
Ak
Peter
23. Apr, 2008
I thought the record for survivng without sleep was 11 days.
Do the sufferers of fatal familial insomnia sleep at all? I am not talking REM sleep, but isnt there and low level of sleep (Dont know how to phrase it) that you do not notice when you slip into it?
Also, does insomnia cover all sleeping disorders, even ones where you can sleep fine, but the times you get to sleep are irregular and irratic?
Kerry Friesen, M.D.
23. Apr, 2008
Peter, insomnia is a general medical term for “difficulty falling and staying asleep”. There are many other sleep disorders, none of them fatal, but all of them affect the duration or quality of sleep. You are asking about quality of sleep. Some people get by just fine with erratic sleep habits — if the quality of their sleep is high. Deep sleep is characterized by delta waves, whereas, theta waves are prominent in the “pre-sleep” state and “day-dreaming”. So yes you are right. Thanks for the comment.
pj
28. Apr, 2008
WOW i heard of this when I was very young on a show back in the 90’s. I was scared of this as soon as i heard of it, i’ve been having difficulty sleeping with insomnia for a few months now, but i also suffer from depression and anxiety, how im i sure that i don’t have this?? god that would be terrible.
Beth
01. May, 2008
Loved the article, very interesting. Are there any theories as to why “mid-life” is when the bit is flipped?
Max_1
08. May, 2008
Hi – just wanted to say good design and blog – cu
mercola
19. Sep, 2008
Great read. Are there any early symptoms?
Kelsie @ Binaural Beats Guide
28. Sep, 2008
Just browsing through your website since Im New to it. This was a very interesting post, kinda scary. I feel very bad for those people who have FFI since there is nothing doctors can do.
Rick
20. Oct, 2008
In the UK we’re still waiting for an epidemic of vCJD, so I be thats causing a lot of sleepless nights!
Kerry Friesen, M.D.
29. Oct, 2008
Hi Rick,
Guess what? It’s not just the UK that’s worried about CJD.
My scariest experience in medical school was the first autopsy I participated in——-a CJD patient..my life changed at that moment.
I anticipate many sleepless night for many people!
Thanks for your insightful comments!
Come back!
Dr Andrew Power - Hypnosis Melbourne
22. Nov, 2008
Hi Kerry, Just wanted to say thankyou for taking the time to bring this issue to light, it is people like you that help work toward a brighter future.
Stephanie: There has been alot of research into alternate state of consciousness that become accessible through the deeper (below somnabulism/esdaile states) where physical conditions can be improved with the assistance of the subconscious. From what I know, there has been no research conducted with FFI and hypnotherapeutic intervention (correct me if i’m wrong or you know otherwise.. FFI is reasonably new having been discovered some 35yrs or so), however research is currently investigating other disorders and as most probably are currently aware, hypnotherapy does work beautifully with general insomnia.
RLS has had some research completed with regard to hypnotherapeutic assistance with varying result. Unfortunately I dont have any research data I can share at this moment.
Thanks,
Dr Andrew Power
Australian Centre of Hypnosis
Dr Andrew Power – Hypnosis Melbourne’s last blog post..I’ll See You In Health! Stephen Colbert Rebuts Ridiculous Crestor Claim
Kerry Friesen, M.D.
24. Nov, 2008
Thanks for the kind words Dr Power.
FFI is characterized by a dual mutation resulting in the production of the insoluble prion protein PrPsc. Because of the inevitable plaque formation deep in the thalamus, I am not certain that hypnotherapy would have a lasting effect. Gene therapy is promising but like all therapies various other modalities will most likely be required to augment its effectiveness.
I can only hope that the day arrives when the effectiveness of hypnotherapy combined with gene therapy could be tested.
Thanks again. Hypnotherapy is clearly effective in cases of chronic persistent insomnia and is a therapy I recommend to my patients.
kindest regards,
Kerry D. Friesen, M.D.