What is Narcolepsy?

This is Moshe Turner's excellent explanation of another facet of narcolepsy.  NICER is the foundation he started to help narcoleptics in trouble.  More information about NICER can be found at https://www.nicer.ngo/. 

 

 What is Narcolepsy?

In a small area in our brain there is a population of about 100,000 specialized cells called orexin neurons which produce several neurotransmitters. Due to their having been identified and named almost simultaneously by separate teams in the US and Japan they are also known as hypocretin neurons, as each team named their discovery independently. For simplicity we will call them orexin neurons, and the peptide they primarily produce, orexin.

When these orexin neurons are either completely or partially killed off by a misdirected immune response, orexin becomes either mostly or completely unavailable and therefore the signaling it does becomes drastically limited or stops completely. This causes much dysfunction in the nervous system.  The most visible and recognizable physical manifestation of this dysfunction is a cluster of symptoms collectively known since 1880 as narcolepsy.

 The signature feature of narcolepsy is the dysregulation of a person’s sleep/wake cycles, a neurological function normally modulated by orexin.  Normally the brain, directed by orexin with input from the circadian clock, "flip-flops" regularly back and forth between wake and sleep.  In narcolepsy the brain gets no instruction from orexin and the circadian clock becomes disconnected; this results in the random flip-flopping from wake to sleep and back at irregular intervals. Nighttime sleep is repeatedly interrupted with waking and daytime wakefulness is punctuated by bouts of Excessive Daytime Sleepiness (EDS).  EDS is the most common symptom of narcolepsy, and is often the first symptom to make itself manifest.

The other four of what is known as the classic tetrad of narcolepsy symptoms are cataplexy, a sudden complete or partial loss of muscle tone that leads to a state of temporary complete or partial paralysis, hypnagogic and hypnopompic hallucinations, experienced upon entering or leaving sleep, respectively, sleep paralysis, a temporary inability to move or speak usually upon rising from sleep into a semi-awake state, and automatic behavior, continuing on with a task while a person has essentially fallen asleep.  It is to be noted that not all symptoms are experienced by all narcoleptics, nor is the severity of any one symptom consistent from one narcoleptic to another. In fact, the only thing consistent about narcolepsy is that it is experienced inconsistently between narcoleptics and that each narcoleptic experiences his or her own narcolepsy inconsistently over time.

Narcolepsy was formerly known as a sleep disorder of psychological origin as scientists had not been able to find a physiological cause. That changed with the discovery of orexin in 1998. In recent years narcolepsy has been reclassified as neurological disorder, with type 1 narcolepsy (with cataplexy) occurring in 65-70% of patients. Most of the remaining sufferers fall into the category of Type 2 narcolepsy (without cataplexy).

Orexin is a central player in nervous system function. It regulates or is involved in the regulation of almost all of the other neurotransmitters, and plays such a prominent role that it has been called "the conductor of the neural symphony". Apart from regulating the sleep/wake cycle, orexin functions as a sensor and integrator of the internal and external environment and in response to changing conditions such as hunger, fear, cold, etc., orexin regulates food seeking, homeostasis, sex drive, thermogenesis, respiration, executive function and cognition, motivation, mood, circulatory and cardiac function, intestinal motility, olfactory perception and a host of other processes. Also, because orexin directly regulates other neurotransmitters, when orexin is not available the result is a series of cascading failures of those other systems that can cause a multitude of other symptoms that appear to be unrelated.

Very few clinicians are knowledgeable about narcolepsy and are not able to understand the connections between these apparently unrelated symptoms. They often dismiss their patients as having psychological problems or simply lump them all under the catch-all diagnosis of dysautonomia. Accordingly, patients are often denied treatment for the very real symptoms of what is essentially an invisible illness.

Even fewer medical people have the knowledge and skills to accurately dianose narcolepsy. Although modern internet communication has gone a long way towards improving diagnosis times, it is still not unusual for a patient to go 10 years before getting a diagnosis. Older narcoleptics will often tell you they went without diagnosis for as long 30 or 40 years.

Undiagnosed, narcolepsy slowly destroys the lives of those who are afflicted with it. This stealthy and silent condition affects every aspect of living. Often, by the time a diagnosis is obtained it is too late to rescue what has been lost; marriages are ruined, careers lost, family becomes estranged, friendships ended. Further, it is so difficult for other people to understand what it's like to be a narcoleptic that even after diagnosis the condition’s effects continue to wreak havoc in a person's life. It is not unusual for narcoleptics to end up poor, divorced and unemployed.

Ask any narcoleptic what they want most and almost every time the answer you'll get is "I want other people to understand what it's like to be me."

That's because narcoleptics spend much of their lives not fully awake, experiencing what is referred to as "brain fog", without sufficient presence of mind to react appropriately to social cues or to make good decisions. Accordingly their social and personal interactions are often fraught with difficulties, their work performance is uneven, and even their leisure activities are dysfunctional. To make matters worse narcoleptics are often the worst judges of their own state of mind. 

While narcolepsy is essentially a stable condition, over time due to the ongoing dysregulation of many physical processes and the effect of a lifetime without restful sleep eventually takes it’s toll on a body and symptoms will worsen and new ones may arise. In particular, while the arrival of middle age often signals a slowing down for most people, the effect is amplified many times over in narcoleptics, whose bodies' ability to regulate homeostasis is already impaired.

There is currently no cure for narcolepsy. Most narcoleptics are treated with stimulant medications for EDS, but due to poor understanding by physicians narcoleptics asking for increased doses are seen as drug seeking and denied the medicines they need. Some of those with type 1 narcolepsy make use of anti-depressants, especially SNRI's to help with cataplexy. Those who can tolerate the often serious physical and psychological side effects use sodium oxybate, a sleep consolidator and anti-cataplexy drug. However, many narcoleptics are denied the medicines they need by their insurance carriers, some have bad reactions to various medications, and others are uninsured or otherwise can't afford the staggering costs of some of these medicines, which can cost upwards of $10,000 per month, or the high co-pays associated with them.

Despite its crippling effects, the invisible nature of narcolepsy and its rarity of occurrence (1 of 2000 persons in the US are affected) have kept narcolepsy from being listed by the Social Security Administration in its “Blue Book” of recognized disabling conditions. When applying for disability benefits from SSA, a person with narcolepsy will be denied coverage and must appeal at least twice, ending up in a hearing before an administrative law judge who will make a determination based upon the testimony the applicant provides at the hearing and on the advice of a vocational expert also in attendance. This process can take upwards of three years, whereas a person with a much less critically disabling condition can sometimes apply and be granted benefits in a matter of months.

Why do we say that narcolepsy is so destructive?

In order to understand the extent of the destruction narcolepsy can wreak in the lives of its victims, we have to differentiate between the very obvious physical manifestations of the disorder and its more subtle behavioral effects, for it is these subtleties that cause the most damage.
Have you ever found yourself needing a nap and just as you were drifting off, there was someone knocking rather insistently at your door?  So you took care of that and settled back down for your nap.  Then, just as you were drifting off again, the phone rang, or one of your family members barged into the room making all kinds of noise.  So you answered the phone or you asked everyone to be quiet, and settled down again for your nap.  Then once again just as sleep started to put its sweet arms around you, something else woke you up.  You were probably pretty grouchy by that point and even though you are of a kind and loving nature the next person to foil your attempts to visit dreamland might have gotten their head bitten off.  Imagine what it would be like to live your entire life in that state.  Narcoleptics are often said to have issues with anger, but really, they are just very sleepy and not in control of the manner in which they respond to certain stressors.  One wife was heard to say, "I know that when he's being ugly it's the narcolepsy talking, not my husband."  He's a fortunate man, as that is a rare perspective.
People rely on subtle social cues to understand how to behave in certain situations, or they know how to listen between the lines of what others are saying in order to catch their drift.  This requires an ability to pay attention and to maintain a certain presence of mind in all situations.  You have to be alert and aware of what is going on around you.  Walking around through life in a sleepy haze, narcoleptics don't have this attentiveness.  Often, narcoleptics are described as "clueless".  They miss these social cues and accordingly behave in what appears to others to be an odd manner.  They miss things that are intimated in what others say and respond inappropriately.  Appearing sleepy or "zoned out", they are often dismissed as being stupid or on drugs or drunk.
Without a storybook of episodes it is difficult to explain to someone just how destructive to their lives it is to be disabled in this manner.  Marriages, friendships and other relationships often can't survive this.  We haven't discussed the many other ways in which this terribly disabling yet invisible illness makes tragedy and loss a recurring theme in the lives of narcoleptics.  All kinds of situations that require interacting with others suffer greatly.
This is only a peek into the kind of damage that turns the lives of narcoleptics into one long train wreck.  We hope eventually to get this web site into a format that will allow us to post stories submitted by narcoleptics, offering you a further look into what that's like.

An excellant explanation of some of the worst narcolepsy symptoms

This is copied from Narcolepsy Cataplexy Info Community on Facebook.  It describes one of my biggest problems. Thanks to Brian Remmerde who is on the forefront of recommending anything that helps PWN.

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I didn't write this and I'm not sure who the original author is but it's very good. I saw it when a friend posted it, it's very good.
Take No offense, from this post.. But listen and learn from this amazing writer who put our disorder into action words! I am sharing this too educate and advocate for narcolepsy ! And sharing with my very supportive family and friends, but mostly wanted my ‪#‎narcolepsynotalone‬ friends to read this spot on note to help a friend !
( pwN) people with narcolepsy
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I am sending this letter because (PWN) needed something to help you better understand some of the issues that he faces on a daily basis because of his narcolepsy.
I don’t know (PWN) personally but I don’t have to. There is some variation in how the disease affects people, but there are a lot of similarities. The first thing I can promise you is that he hides as much of his suffering as possible because showing it would drag everyone else down. This is commonly referred to as our “game face”. You need to understand that if you ask “How are you?” the response you get is relative to how he feels all the time so it doesn’t mean the same as when you use the same words. If the response is “Good!” it probably means that he is really frickin’ tired but is dealing with it well enough to almost function like a normal person. There is also a pretty good chance that it is a flat out lie. If the response is something like “ok” or “fine” he is struggling and needs your help. If the answer is “tired” he is on his last leg. Something more like “Crappy” is an indicator that, if you really care, you need to send him to bed and keep the kids quiet or take them outside or somewhere else so he can sleep and he probably actually needs more than that, but everyone needs to understand that you are only human too.
I can tell you that for him just getting through the day takes way more effort than everything that him or you have to accomplish throughout that day. I can tell you that doing the dishes, making meals, keeping the house clean, mowing the lawn, and even things as simple as folding laundry take two or three or four times more effort than anyone who doesn’t have narcolepsy. If he isn’t doing enough to help keep the house clean I guarantee he feels like a failure because of it but just doesn’t know how to handle it any better. When you have narcolepsy your standards for how to do your job and take care of your home and kids don’t drop, but living up to your own standards can become almost impossible.
When you have narcolepsy your body usually gets plenty of sleep, but your brain is in a constant state of sleep deprivation. Institutions don’t do experiments involving long-term sleep deprivation because it causes physical and emotional damage. People with narcolepsy carry a significant amount of sleep deprivation which only gets worse over time because sleep doesn’t provide relief. The most common symptoms of sleep deprivation are forgetfulness, memory issues in general, difficulties with concentration, decision making, and overall ability to think clearly. This happens because sleep deprivation directly affects the frontal lobe of the brain where these things take place. (Note: Even though I should be able to easily list these things because I talk about them on a regular basis, I had to flip back to my list several times to get them all included.) The extra effort required to focus on the issue at hand makes it very easy to forget about things that are out of your field of vision, causing problems with anything that resembles multitasking. The emotional results of sleep deprivation are probably the easiest to see though. I am sure you are familiar with how easy it is to get cranky when you are tired? Now imagine fighting off this crankiness every minute that you are awake.
Most normal people are accustomed to linear thinking. In planning an activity, a day, or just getting ready to go somewhere they have the ability to think of each thing that needs to be done in order and automatically add up how long each step is likely to take, establish an expected time frame, and build in some extra time for things that take longer than expected or other things that pop up. When you have narcolepsy your head is often a blur of thoughts and instead of mentally lining steps up in chronological order everything just blurs together like your grandma’s once-around-the-kitchen casserole so nothing goes as planned and you wind up being late for things regardless of how important they are to you and make time management in general ridiculously difficult.
Another issue which is probably related to both the lack of focus and lack of linear thinking is the tendency people with narcolepsy have with finishing things before moving on to something else. Yep, it is pretty normal for someone with narcolepsy to have a house full of unfinished projects. Nagging them about it won’t help the situation. Anticipating it and helping them stay on track will.
People with narcolepsy typically get meds to help them with energy, mental clarity, etc, but they rarely do the entire job because there is no replacement for restorative sleep. Healthy people can’t stop sleeping at night and take a pill in it’s place and people with narcolepsy are no different. These meds help some people gain mental clarity but they are still struggling to stay awake most of the time. They help some people stay awake but do nothing to help with clarity and in many cases actually make it worse. A very good friend of mine says: “My meds just help me do stupid stuff faster.” and this is really a great description of how they affect a lot of us. They may provide the energy to do things, but they take away a person’s ability to channel that energy properly. Have you ever pulled an all-nighter and relied on high doses of caffeine to get you through the next day? Yes you made it through the day and you accomplished some stuff, but do you remember how you felt all day? Were you really you? How many days in a row do you think you could do that? That is just about exactly how I feel when my meds are working their best.
The meds also tend to multiply any existing weaknesses a person has. Some of those weaknesses are physical ailments, but more common it is mental or emotional issues and sometimes they create new issues in people who have never had any. They commonly create or multiply issues like anxiety, and they can mess with the rewards system in the brain to cause obsessive or compulsive behaviors causing a much higher percentage of people on stimulants to struggle with issues like compulsive shopping or hoarding than normal people. Because of some similarly described symptoms, people with narcolepsy are often told that they are tired because they have major depression. Yes it is a fact that a lot of us have some depression, but that’s because it’s pretty tough to feel like total crap all day every day without letting it get you down.
On top of all of the internal difficulties people with narcolepsy face they have a regular flow of external difficulties because other people just don’t get it. As a disabled workaholic the thing that really gets to me is the way people tend to think we are lazy. I am constantly judging myself on my productivity (or now typically my lack thereof) and (PWN) is probably the same. He has probably become accustomed to being criticized for not trying hard enough by people who aren’t putting forth nearly the effort he is. When he appears to be sitting on the couch doing nothing he is probably wondering how it will be possible to accomplish everything that needs to be done. If he is still employed he is probably struggling more to keep up at his job than he lets on, and if he is no longer able to work he needs more emotional support than you can possibly imagine. If (PWN) is like almost every one of the 1,000-plus people with narcolepsy I have talked to in the past couple years he is constantly beating himself up for what feels like constant failure. Getting criticized for screwing up or not trying hard enough isn’t a slap in the face, it is a kick in the ribs when he is crawling because he doesn’t have the strength to stand.
I have often been told that I just need learn to cope like other people with other diseases do so I can function like a normal adult. The problem is that when you have narcolepsy the disease lies right where a person’s ability to cope is supposed to come from, so getting irritated with them for not functioning right is like getting irritated with a paraplegic for not being able to walk or someone with emphysema for not being able to breath right.
There are many things that are very simple for healthy people, many of which are done with little or no thought at all, which are very difficult for someone with narcolepsy and no matter how hard you look at them through your own eyes, from your perspective, these things aren’t going to make sense. That’s why you need to step out of your perspective and look at things from another angle. When people are told about something someone else is dealing with they have a natural tendency to find something in their mind that they are familiar with and use it as a sort of reference point. When someone says they have a headache you probably think about how it feels when you have a headache and continue the conversation with that in mind. When someone describes a problem that you have never experienced you probably think about someone else you know or have heard about with a similar problem and set that person as a reference point for the difficulty the person you are talking to is facing and compare everything you are hearing to that other person. The natural responses those two scenarios tend to make it more difficult for us to really understand what someone is going through if they are dealing with an extreme case of those symptoms because we want to try to put ourselves in their shoes and it just doesn’t work because regardless of how sincerely we want to understand we don’t know what it’s like and we can’t really imagine it. That is why if you are talking to someone with narcolepsy you have to push aside everything you know about how it feels to be tired based on your experiences, accept that you don’t and hopefully never will know what it’s like to be narcolepsy-level tired all day every day, and take what that person says at face value because the chances of it being exaggerated are very slim.
(Optional paragraphs)
If this still leaves you thinking that (PWN) should be trying harder or you still might have a tendency to look down on him for his lack of performance look at it this way - How tired would you have to be to act the way he does? It would have to be bad, right? You would suck it up and give it every last bit of strength you have before admitting you couldn’t do it anymore? Do you really think (PWN) is less of a person than you? It is a pretty safe bet that he has already been to that point and beyond. Please go back and review my first promise to you.
In closing I have one request - I ask that you try to remember this letter next time you are at a family gathering. Try to remember to watch (PWN) here and there as he is sitting and talking to friends or relatives for hours. Has he held a smile on his face a lot of the time, and displayed interest in what everyone is saying and doing? If so he probably deserves an Oscar because to sustain that act and hold back all of the tired crappiness inside takes a hell of an effort and it should not be overlooked