20.10.2015
She had symptoms that were textbook for narcolepsy but she was not being treated.  There are excellent treatments that allow people to live very normal lives, although I’m not sure brain surgeons or air traffic controller would be great job choices for them. In the past, many people with narcolepsy had symptoms for years before they got an accurate diagnosis.  Often, they were told that they were lazy and unmotivated.
The good news is that narcolepsy is better recognized now by general practitioners.  Certainly a sleep doctor would be suspicious usually at the first interview if a person had some key symptoms.
In dogs, narcolepsy was found to be caused by a genetic mutation, but after years of searching the human genome, researchers could not find a similar genetic cause in humans. I have seen so many narcoleptic patients come to me as complete wrecks because the symptoms can cause such havoc on their personal and professional lives, which in turns leads to depression and despair. Sleep disorders are usually an exceptionally widespread complication associated with distressing human brain harm (TBI). Described as a sleep disorder, a medical disorder, a neurological disorder, and, most recently, an autoimmune disorder, all and none of those labels precisely convey what it means to have poor control over your sleep-wake cycles. One thing that is heartening about narcolepsy is those who suffer from this disorder have established a thriving online community, apparently international in scope, where one and all can share not only their personal experiences but also medical information. Interestingly, narcoleptics generally experience the REM stage of sleep within five minutes, while most people do not experience REM sleep until an hour or so into the sleep cycle. Researchers have found good evidence that the troubling sleep disorder narcolepsy is an autoimmune disease, in which the body’s own immune system attacks healthy brain cells. Researchers have known for years that narcoleptics are more likely to have a particular version of genes called HLA that make key immune system proteins.


Undiagnosed narcolepsy can have devastating effects on academics and work.  Sometimes it was misdiagnosed as depression, drug abuse or, when hallucinations were reported, schizophrenia. Narcolepsy symptoms usually appear in teens and young adults, although there are many reports of people developing this disorder later in life. There is a blood test called HLA-DQB1*0602, which is usually positive in patients with clear-cut narcolepsy with cataplexy but this only shows that the disorder is probably an autoimmune disorder.
People with narcolepsy experience “sleep attacks,” or sudden, irresistible temptations to sleep that can strike at any time and may last a few seconds or several minutes.
Because people with severe cases of narcolepsy may fall asleep anywhere, anytime, they live a life of great danger. A new study published in Nature Genetics links narcolepsy to mutations of two genes involved in critical roles in protecting the body from disease. And many people are positive for this test who never develop narcolepsy.  It is not a test that is clinically very useful and is generally used only in research. At the same time, they often cannot sleep at night, while feeling extremely sleepy throughout the day. Symptoms also include sleep paralysis, hallucinations, and cataplexy, which affect about 70 percent of all people with narcolepsy.
Sadly, the average time between the date symptoms first appear and a medical diagnosis is 10 years and in that time, people who suffer narcolepsy are often seen by others as unusual, lazy, or simply crazy. The frequency of narcolepsy varies from country to country, with it being most common in Japan, and most rare in Israel, suggesting it may be linked to a genetic cause. To gain a greater understanding of narcolepsy, this video from National Geographic follows Dee Daud, allowing you to see for yourself what it really means to have narcolepsy.


These two variations, they say, are likely conspirators against [cells that produce] hypocretin, a hormone that promotes wakefulness, and that narcoleptics have been found to lack [HealthDay News].
There is currently no cure for narcolepsy, although the symptoms can be largely controlled with a mix of stimulants and sleep-suppressing medications. Cataplexy is unique to narcolepsy — no other disease causes this sudden weakness of the muscles, especially in the legs but also in the face and neck, that is usually brought on by strong emotion, laughter in particular.
A possible cause or link to the cause of narcolepsy is lack of a chemical called hypocretin, which is normally produced in the hypothalamus. In autoimmune disease, T cells may run amok, mistakenly attacking the body’s own, healthy cells [Science News]. It also sheds no light on what triggers the attack in the first place, a mystery for most autoimmune diseases. Although the diagnosis helped explain her sleep attacks and other symptoms, she did not immediately find relief in medication — she says she “spent a decade trying different medicines and therapies” — and little could be done about her employment prospects. Some researchers believe the body's immune system attacks the cells that produce hypocretin. The new study added to this knowledge by analyzing DNA from nearly 4,000 participants, all of whom had the HLA variant, but only half of whom had narcolepsy.



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