Fatal Insomnia - A Terrifying and Little Understood Disease

Transcript

Sleep is one of the most fundamental, necessary, and often under-appreciated functions of the human body. We all know that proper sleep is essential to act and feel our best, yet most people today don’t get enough to meet their body’s demands. Despite this, I would bet that we all know the frustrating and helpless feeling of insomnia - laying there waiting and hoping for sleep while it remains just out of reach. 

As somebody who suffers from narcolepsy, I’m personally familiar with the impact sleep disruption can have one one’s health. I’m used to sleeping far too much and at inappropriate times. However, I’ve come across a very rare disorder that makes me glad that I don’t deal with the opposite problem - chronic inability to sleep. 

Now’s a good point for a minor content warning. We will be discussing some potentially distressing medical topics and as insomnia is something we all deal with from time to time, people have found themselves trapped in fear that they are showing signs of this incredibly rare disease. If you are prone to intrusive thoughts and obsessive fears, consider whether you want to keep listening. That out of the way, let’s get started. 

What we’re talking about today is the incredibly rare disease, fatal insomnia. Fatal insomnia can be familial - passed down through genetics - or sporadic, appearing suddenly in a person with no genetic issues or family history. However, the overwhelming majority of fatal insomnia cases are familial in nature. 

Presentation of first symptoms usually begins between the ages of 40 and 60 years old. The disease is considered to progress through four distinct stages. 

In the first stage, the sufferer experiences insomnia which continually worsens. This will result in a number of symptoms associated with sleep deprivation such as paranoia, phobias, and panic attacks. 

In the second stage, panic attacks and hallucinations will begin to have a noticeable effect on the patient. 

The third stage happens when the insomnia progresses to a complete inability to sleep. This is followed by a rapid loss of weight. 

The fourth and final stage of the disease involves a state of dementia, and the sufferer becoming almost entirely mute and unresponsive, no longer capable of interacting with the world around them. 

As you might imagine, many other symptoms can show up during this time as a result of sleep deprivation - these include high blood pressure, profuse sweating, memory loss, and difficulty speaking or concentrating. 

Later in the disease, patients would spend much or all of their time in a state known as hypnagogia. This is the state of consciousness between being fully awake and the first stage of sleep. Patients may also begin to move their limbs as though they were dreaming, despite still being awake. 

Now, before you begin worrying about your own insomnia and thinking you might have this disorder, let me reiterate that it is incredibly rare. According to the National Institute of Health, there are around 70 families in the whole world which have been identified to carry the genes for this disorder. Sporadic cases

You might ask yourself, what could possibly cause a disease such as this? Fatal insomnia is thought to be the result of a prion protein disease, having similar genetic issues as seen in other prion diseases such as Creutzfeldt-Jakob. This genetic mutation causes disruptions within the thalamus, the part of the brain responsible for controlling sleep, and this is widely believed to be the cause. In fact, deterioration of the thalamus is often found during autopsy of patients who died due to fatal insomnia. 

Currently, all cases are invariably fatal and there is no known cure. Treatment is focused on maintaining comfort and quality of life for the patient, though there are few known effective treatments even for this. Average time lived after diagnosis is usually between 6 and 36 months, with patients suffering severe effects and greatly diminished quality of life for many of these months. 

There exists, however, a case report in the literature about a man who went to great lengths to experiment with treatment for his disorder, and managed to achieve some relief from the progression of effects and accomplish an impressive amount in the time after his diagnosis. The report was published in 2006, and I will leave a link to it in the description of wherever you are watching or listening to this. For privacy reasons, the patient is referred to only by the initials DF. 

I think going into this report a little bit will give us a very clinical and carefully recorded account of what it’s actually like to live with this disease. It’s a long story, and unfortunately not a very happy one, but it lays out the progression of the disease in a very real way. 

What follows is directly quoted from this report, with some minor edits for clarity and length. 

DF was a right-handed, 52-year-old, white, American man with a doctorate in naturopathy. DF's father, paternal uncle, and 2 male cousins were diagnosed with fatal familial insomnia (FFI). His father died at age 76; his uncle died at age 74; and each of DF's cousins died before the age of 50. Because disease onset beyond age 60 is rare, it is worth mentioning that DF's father was a prominent talk radio nutritionist who promoted the regular consumption of wheat germ and who richly supplemented his own diet with antioxidant vitamins. Because the trigger that begins FFI is unknown, the possibility that a specific diet might delay onset is worth considering.

Although DF had always been a short sleeper and nocturnally active, in March 2001, he experienced a marked reduction in the duration of his sleep and occasional nights of total insomnia. This symptom did not initially concern him. However, in subsequent months, the additional appearance of a hand tremor, fever spikes, profuse sweating, and problems with short-term memory led him to seek medical attention. The diagnosis of FFI was confirmed by DNA testing.

At this time, DF was 10 months into his illness (stage I). He resolved to make the most of his life before the onset of stage IV. DF purchased a motor home and embarked on a solo tour of the United States.

When he was stranded by prolonged insomnia, DF was frequently disoriented and confused. He reported sometimes finding himself in a parking lot without knowing how he got there, or discovering by the date on a newspaper that several days had elapsed. After 5 months of traveling in this fashion (18 months into his illness), he hired a professional driver and caretaker. During this period, DF was besieged by a number of medical illnesses that were either a consequence of his illness or his treatments; fevers as high as 102°F, hypertension, cardiac arrhythmias, renal hypertension, diabetes, and a heart attack.

Shortly after his diagnosis (at 10 months into the disease), DF received vitamin therapy at the Clymer Institute for Alternative Health in Quakertown, Pennsylvania. At 9:00 o'clock every evening, DF took a combination of niacin, antioxidant powder, blue-green algae, brewer's yeast, B complex, zinc (sublingually), magnesium, inositol, PABA, grape seed extract, CoQ-10, choline, Tiger's Milk nutrition bar, highly concentrated wheat germ oil, tryptophan, and 2 g of melatonin. He also injected a gelatinous form of B12 into his nasal cavity.

Within 30 minutes of this treatment, DF reported that he fell into a natural and restful sleep. On this regimen, he experienced 5 out of 6 consecutive nights of sleep, ranging from 5 to 6.5 hours per night. (Prior to these treatments, he had frequently endured 72-96 hours of total insomnia.)

By month 15 (early stage II), vitamins alone failed to induce sleep. Following 5 consecutive nights of insomnia, DF became intensely irritable and delusional. An evaluation at the Massachusetts General Hospital in Boston, Massachusetts, found that he had suffered a minor stroke; he was anesthetized until he fell asleep. While hospitalized, he slept for 3 consecutive days and was fully alert and refreshed afterward.

In later months, DF continued the strategy of anesthesia. Ketamine and nitrous oxide induced short (15-minute) periods of restful sleep, and were reapplied to offer more prolonged relief. Chloral hydrate in a light alcohol mix and/or chloroform also worked.

At 16 months, his symptoms included consistently elevated body temperature (as high as 102°F), profuse sweating, serious impairment of short-term memory (for which he compensated by keeping lists), difficulty maintaining attention (he often did not know that the phone was ringing), difficulty distinguishing reality from fantasy (he didn't remember whether he had called a friend or had only imagined doing so), persistent headaches, hallucinations while driving (believed he saw people on the road when it was, in fact, empty), panic attacks, and a complete loss of sense of time. 

Much of the time DF was confused, and sat entranced for hours. On occasion, he would get up for water, forget why he had gotten up, and return to the couch empty-handed. He might repeat this behavior for hours, never actually obtaining the water and not guided by the fact that he was thirsty. He could not decipher notes that he had written to himself on previous days. His speech was dysarthric.

By the 16th month of his illness, DF spent much of the day as an akinetic mute with terrible headaches, confusion, mood swings, and myoclonus of the left arm (treated with levodopa). Despite his outward "dementia," he inwardly pondered approaches to his condition, and, when again able to speak, he requested a regimen of stimulants.

He was prescribed phentermine HCl 37.5 mg (time-release), which he took twice daily and eventually 3 times daily (before meals and no later than 6:00 pm). The drug had immediate and dramatic effects, promoting not only alertness during the day, but apparently a sleep-inducing rebound when it wore off. He described the sleep experience as "natural"; he felt well upon arising, despite a slight headache that faded as the day wore on. For 4 consecutive nights, DF slept 5 hours each night, was able to drive, and returned to his daily routines, which included writing a novel. It was at this time when he began taking walks to physically tire himself. He no longer felt confused and reported that, aside from problems with his short-term memory and sense of time, he felt as well as before the onset of FFI. 

Unfortunately, he was accidentally overmedicated by his caretakers and received 2 pills (75 mg) of phentermine in close succession. This overdose resulted in cardiac arrhythmias and another hospital stay. Medical examination revealed protein in his urine and tiny retinal hemorrhages, and stimulants were discontinued. He spent subsequent weeks sleeplessly and in the characteristic stupor of stage III. When the phentermine was resumed, DF regained his ability to function and drive, but after a week, believed that he had developed a tolerance to the drug. It was no longer alerting him, nor was he sleeping.

Skipping ahead some now from some very dense medication information, we hit month 22. At 22 months into his illness, DF purchased a sensory deprivation tank; a man-sized, egg-shaped chamber designed to eliminate all sensory input. DF became interested in this chamber because his sleep was constantly disturbed by any small sound, light, or motion.

In the sensory deprivation tank, the individual floats in concentrated Epson salt water at body temperature (experiencing no pain, gravity, temperature, touch, or kinesthetic information). Eyes and ears are shielded from light and sound, and the lid is shut. This device promotes total muscular relaxation. In early experiments in the 1950s, subjects fell asleep shortly after entering one of these devices.[2] Upon awakening, most demanded immediate release. Those who remained experienced hallucinations, and had difficulty performing simple math calculations and tests of motor coordination (eg, walking and writing). The more time spent in the chamber, the more disoriented the later behavior.

Upon being immersed, DF was immediately anesthetized with nitrous oxide until he fell asleep. (Sleep was determined by a reduction in his heart and breathing rate). At his first attempt, he remained asleep for 4.5 hours. Subsequent use always resulted in the rapid onset of an unpredictable amount of sleep, ranging from 10 minutes to 8 hours. Similar to other subjects, upon awakening DF experienced disturbing hallucinations, - with the subjective uncertainty as to whether he was awake or dead. As always, long periods of sleep restored DF's mental clarity, suggesting, again, that at least some of the "confusion and dementia" of the FFI patient may be a consequence of insomnia.

Gamma-hydroxybutyrate (GHB) was administered during the last month of DF's life. To reduce the possibility of negative interaction with diazepam, he tapered his dosage for several days before trying GHB. According to his caretaker, GHB resulted in sleep within 30 minutes of administration, but did not last long enough for DF to feel rested. Similar to Reder's patient, described in Part 1, DF felt achy and irritable most of the time. He was unable to resume his stimulants because of potential heart and kidney failure.

During his last month, he was hospitalized for heart problems. Use of GHB was discontinued at this time and this was shortly followed by cardiac arrest.  

Whenever he traveled or was hospitalized and away from his sleep tank, DF practiced meditation. This technique enabled him to achieve what he described as "sleep," or a restful, restorative state.

One interesting note concerning DF’s case was that he described his dreams as peaceful and gentle, when he could achieve them. He described dreams of entering a room with all the people he loved and wanted to see, including those who were dead, and would provide him with support and encouragement. “to the outside world, I am dead and gone, but to myself, I'm still here, in this wonderful place and it is they who have disappeared.” According to the report, DF may have indicated that the attractiveness of this peaceful state may have caused others who had this condition to give up and allow themselves to die, rather than keep fighting with their deteriorating reality. 

I can only imagine what it must be like to have witnessed so many elder family members die from such a debilitating disease as fatal familial insomnia, and to know from that point forward that you’re likely to suffer the same fate. The idea of being trapped in a deteriorating mind, in some cases locked in and totally aware but unable to move or speak due to sheer exhaustion, is an existential nightmare for myself - and likely many others, given the attention this disease has received on the internet.

In spite of all of this, he kept searching for new solutions. I find the story very inspirational for someone using every bit of knowledge and experimentation to try to stay ahead of a disease they’re burdened with, and it’s even mentioned that he had in one way or another procured illegal medications such as Benzedrine in the course of his treatment. Today, his case is highly notable for establishing some of the very little evidence available for treatments which may delay the onset and progression of fatal insomnia and provide a better quality of life for those who suffer from it. 

If you’d like to know more about fatal familial insomnia, you can check out the page at NORD - the National Organization for Rare Disorders. NORD is a non-profit organization dedicated to education, advocacy, advancing medical treatments, and even helping patients get access to extremely expensive life-saving or life-changing medicine. I have no affiliation with NORD and obviously they haven’t sponsored the video or anything, but I’ve seen the positive work they do even in communities for my own disorder. I try to maintain a respectful balance when talking about shocking topics that affect real people, and if there’s a positive thing that could come out of it I think bringing awareness to such institutions is a good outcome. You can find their page at rarediseases.org. 

Although we can all have our issues that pop up occasionally or persist chronically throughout our lives, I think there’s something about learning about diseases like this that can help us maintain gratitude for the capabilities we do still have. Although insomnia can be an overwhelming and frustrating condition to live with, at least the overwhelming majority of us can take comfort in knowing that ours will resolve. 

Hopefully you enjoyed today’s topic and learned something. For this comment prompt, what are some things you do that relieve insomnia when you’re struggling? Leave your comments below, consider subscribing if you want to see more from the video, and maybe leave a like or dislike on the video depending on how you felt about it. Each of these interactions helps increase the reach of the channel more than you may realize. Until next time, it’s been a pleasure as always. Thank you.