writingwithnarcolepsy

[writingwithnarcolepsy]

Narcolepsy: Who? What? When? How?

The most important part of this post is explaining exactly what Narcolepsy is. We’ll cover the basics, but know that I can only personally speak from my experience with my own diagnosis. So this post will cover the generalized symptoms and ins and outs of the diagnosis. Other posts, later on, will cover my experience with narcolepsy. 

What is Narcolepsy?

Narcolepsy is a chronic neurological disorder that affects the brain’s ability to control sleep-wake cycles.  People with narcolepsy usually feel rested after waking, but then feel very sleepy throughout much of the day.  Many individuals with narcolepsy also experience uneven and interrupted sleep that can involve waking up frequently during the night.    

Narcolepsy can greatly affect daily activities.  People may unwillingly fall asleep even if they are in the middle of an activity like driving, eating, or talking.  Other symptoms may include sudden muscle weakness while awake that makes a person go limp or unable to move (cataplexy), vivid dream-like images or hallucinations, and total paralysis just before falling asleep or just after waking up (sleep paralysis).  

In a normal sleep cycle, a person enters rapid eye movement (REM) sleep after about 60 to 90 minutes.  Dreams occur during REM sleep, and the brain keeps muscles limp during this sleep stage, which prevents people from acting out their dreams.  People with narcolepsy frequently enter REM sleep rapidly, within 15 minutes of falling asleep.  Also, the muscle weakness or dream activity of REM sleep can occur during wakefulness or be absent during sleep.  This helps explain some symptoms of narcolepsy. (Information is taken from the Narcolepsy Fact Sheet) 

Who has Narcolepsy?

It’s estimated that 135,000 to 200,000 people live with Narcolepsy in the United States. Most are diagnosed between the ages of 7-25. I personally received my diagnosis at the age of 17. The numbers are fairly split among men and women, with no favor either way. Many people have narcolepsy that is undiagnosed and is instead misdiagnosed as sleep apnea, mental health issues, or other sleep disorders. 

What causes Narcolepsy? 

Narcolepsy may have several causes.  Nearly all people with narcolepsy who have cataplexy have extremely low levels of the naturally occurring chemical hypocretin, which promotes wakefulness and regulates REM sleep.  Hypocretin levels are usually normal in people who have narcolepsy without cataplexy.

Although the cause of narcolepsy is not completely understood, current research suggests that narcolepsy may be the result of a combination of factors working together to cause a lack of hypocretin. These factors include:

Autoimmune disorders.  When cataplexy is present, the cause is most often the loss of brain cells that produce hypocretin.  Although the reason for this cell loss is unknown, it appears to be linked to abnormalities in the immune system.  Autoimmune disorders occur when the body's immune system turns against itself and mistakenly attacks healthy cells or tissue.  Researchers believe that in individuals with narcolepsy, the body’s immune system selectively attacks the hypocretin-containing brain cells because of a combination of genetic and environmental factors.

Family history.  Most cases of narcolepsy are sporadic, meaning the disorder occurs in individuals with no known family history.  However, clusters in families sometimes occur—up to 10 percent of individuals diagnosed with narcolepsy with cataplexy report having a close relative with similar symptoms.

Brain injuries.  Rarely, narcolepsy results from traumatic injury to parts of the brain that regulate wakefulness and REM sleep or from tumors and other diseases in the same regions.

Symptoms: The How of Living with Narcolepsy

EDS or excessive daytime sleepiness is the most obvious symptom of narcolepsy. EDS is described as persistent sleepiness, regardless of the individual's previous sleep or the activity the person is in. Described sometimes as a "sleep attack" the sudden onset of sleepiness is quick and sometimes impossible to ignore. In between these times, individuals can maintain focus and alertness at a normal level.

Cataplexy tends to be the most well-known symptom of Narcolepsy, the "joke" that people assume when they hear the word. However, cataplexy is the sudden muscle tone when a person is awake and their loss of voluntary muscle control. This can often be triggered by sudden, strong emotions, such as laughter, fear, anger, stress, or excitement. Which is why I find it difficult when people find the disorder funny. Sometimes mistaken for a seizure disorder, a person with Type 1 Narcolepsy or Narcolepsy with Cataplexy may only experience one or two attacks in their lifetime or can experience ten in a single day. People with cataplexy tend to remain fully conscious and do not fall faint. And in the most severe attacks, a total body collapse happens where individuals are unable to move, speak, or keep their eyes open. Cataplexy is not dangerous if the individual can find a safe place to collapse, otherwise, the loss of muscle control can lead to injury.

Sleep paralysis is the temporary inability to move or speak when falling asleep or waking up. Lasting only seconds or minutes, it can resemble cataplexy but only occurs at the edges of sleep. Just as with cataplexy individuals are fully conscious, and even with severe cataplexy or sleep paralysis, this does mean permanent dysfunction. When the episode is over, individuals rapidly recover the ability to move and speak.

Hallucinations are common among individuals and can become worse or better depending on the medication used to treat Narcolepsy. They tend to be very vivid and sometimes frightening and just like sleep paralysis they occur when they are falling asleep or waking up. Tending to only be visual they can occasionally involve other symptoms.

Fragmented sleep and insomnia are also possible in individuals with Narcolepsy. This may seem odd, but moving through REM cycles rapidly can cause sleep that is broken up. Also resulting in sleep that isn't as restorative as other's sleep.

Automatic behaviors are commonly misunderstood and hard to isolate, usually lasting only a few seconds at a time. This symptom is when a person with Narcolepsy falls asleep during an activity, like eating or talking, and automatically continues the activity for a few seconds or minutes without conscious awareness of what they are doing. This can happen most often when people are engaged in habitual activities such as driving or typing. During these episodes, they cannot recall their actions, and their performance is almost always impaired. Handwriting may change into an illegible scrawl or if it occurs while driving the individual may get lost or have an accident. After these episodes, the individual might awaken feeling refreshed.

How is Narcolepsy Diagnosed? 

A clinical examination and detailed medical history are essential for diagnosis and treatment of narcolepsy.  Individuals may be asked by their doctor to keep a sleep journal noting the times of sleep and symptoms over a one- to two-week period.  Although none of the major symptoms are exclusive to narcolepsy, cataplexy is the most specific symptom and occurs in almost no other diseases.

A physical exam can rule out or identify other neurological conditions that may be causing the symptoms.  Two specialized tests, which can be performed in a sleep disorders clinic, are required to establish a diagnosis of narcolepsy:

Polysomnogram (PSG or sleep study).  The PSG is an overnight recording of brain and muscle activity, breathing, and eye movements.  A PSG can help reveal whether REM sleep occurs early in the sleep cycle and if an individual's symptoms result from another condition such as sleep apnea.

Multiple sleep latency test (MSLT).  The MSLT assesses daytime sleepiness by measuring how quickly a person falls asleep and whether they enter REM sleep.  On the day after the PSG, an individual is asked to take five short naps separated by two hours over the course of a day.  If an individual falls asleep in less than 8 minutes on average over the five naps, this indicates excessive daytime sleepiness.  However, individuals with narcolepsy also have REM sleep start abnormally quickly.  If REM sleep happens within 15 minutes at least two times out of the five naps and the sleep study the night before, this is likely an abnormality caused by narcolepsy.

Occasionally, it may be helpful to measure the level of hypocretin in the fluid that surrounds the brain and spinal cord.  To perform this test, a doctor will withdraw a sample of the cerebrospinal fluid using a lumbar puncture (also called a spinal tap) and measure the level of hypocretin-1.  In the absence of other serious medical conditions, low hypocretin-1 levels almost certainly indicate type 1 narcolepsy.

Treatment for Narcolepsy

The approach to Narcolepsy, will, of course, vary from person to person. 

Medication, a variety of medications can be prescribed including stimulants to maintain daytime awakeness, sleeping medications to help with fragmented sleep at night, antidepressants and other medications to help with cataplexy. 

Frequent naps, hard for individuals who must work, which is why Narcolepsy is on the disabled list for Social Security, frequent naps tend to help those with narcolepsy deal with EDS

Maintaining a regular sleep and wake cycle.