What is Narcolepsy?

In a small area in our brain there is a population of about 100,000 specialized cells called orexin neurons. 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, the signaling they do becomes drastically limited or stops completely. This causes much dysfunction in the brain and the autonomic nervous system.  The most visible and recognizable physical manifestation of this dysfunction is a cluster of symptoms collectively known as narcolepsy.

 The signature feature of narcolepsy is the dysregulation of a person’s sleep/wake cycles, a neurological function normally regulated by orexin neurons.  

We can draw an analogy from electronics.  The type of electronic circuit that causes a light bulb to turn on and off in a regular rhythm is called a stable oscillator, or a “flip-flop” circuit.  In a healthy brain, orexin neurons, with help from sensory inputs and the brain’s internal clock regulate the sleep/wake cycle in a similar manner.  Day after day a steady flipping and flopping between states of arousal and sleep take place at regular, fixed intervals.  When morning comes around, orexin neurons raise the level of orexin in the brain, causing a “flip” to arousal.  When it’s time for bed orexin levels fall, and there is a “flop” to sleep.  

Because narcoleptics no longer have orexin neurons to direct this oscillating, it ceases. Without a flood of orexin to “flip” us into wakefulness we get stuck in the sleep state, and left to ourselves, unmedicated, it seems we’d stay there forever.

Except that we don’t.  

Somehow, and this is not understood, the sleep of narcoleptics becomes fractured by “flips” into a semi-aroused state.  Many narcoleptics just turn over and go back to sleep and in the morning don’t recall these brief arousals.  Nevertheless they show up on overnight polysomnograms, pointing to a diagnosis of narcolepsy.  Excessive Daytime Sleepiness (EDS), the primary and most well-known symptom of narcolepsy, is what happens as result of this fracturing of sleep cycles and the concomitant loss of restful sleep.

Many PWN experience an “amplification” of these disruptions in their sleep resulting in extended periods of wakefulness at night, or Excessive Nighttime Wakefulness (ENW).  This flip side of EDS is the mis-labeled “insomnia” of N, which is completely different from classical insomnia.  

The other three 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, and sleep paralysis, a temporary inability to move or speak usually upon rising from sleep into a semi-awake state. A secondary level of symptoms may include 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 neurons play a central role in autonomic nervous system function. They regulate or modulate many of the other neurotransmitters, playing such a prominent role that they have been called "the conductors of the neural symphony".  Apart from regulating the sleep/wake cycle, orexin neurons function as sensors and integrators of the internal and external environment and in response to changing conditions such as hunger, fear, cold, etc.,  regulate 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 neurons directly regulate other neurotransmitters, when orexin neurons are gone 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 general medical clinicians are knowledgeable about narcolepsy and most are unaware of 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, narcoleptics are often misdiagnosed and treated for illnesses they don't have.

As rare as narcolepsy is, the number of physicians with the knowledge and skills to accurately diagnose and treat it is correspondingly small.  Although the easy access to information that the internet has provided has gone a long way to helping patients improve diagnosis times, it is still not unusual for a a narcoleptic 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 not only affects the bodies and the minds of narcoleptics, it makes their very lives ill.  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."

Narcoleptics spend much of their lives not fully awake, often experiencing what is referred to as "brain fog".  Without sufficient presence of mind to react appropriately to social cues or to make good decisions, their social and personal interactions are often fraught with difficulties, their work performance is uneven, and even their leisure activities are dysfunctional.  

While narcolepsy is essentially a stable condition, over time the ongoing dysregulation of many physical processes and the effect of a lifetime without restful sleep eventually takes its 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 the manner in which narcoleptics are affected by those drugs is poorly understood by most physicians, even those practicing sleep medicine,  When narcoleptics ask for increased doses it appears to these physicians as drug seeking and they deny them the medicines they need.  Some of those with type 1 narcolepsy also make use of anti-depressants, especially SNRI's to help with cataplexy. Some use nootropic drugs such as modafinil.  Those who can tolerate the often serious physical and psychological side effects of sodium oxybate (brand name Xyrem), a sleep consolidator and anti-cataplexy drug, rely on that to remain functional.  Regardless of the specific drug, 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 often must appeal at least twice.  That leads to 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. It can take up to two or three years to complete the process, 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.