“I had the first signs at 7, the diagnosis at 21: for 14 years – spending thousands of euros on psychologists, psychiatrists, neurologists – my condition was mistaken for depression, epilepsy, bipolar disorder, substance abuse, or laziness. In the meantime, school was a disaster and my sense of frustration was enormous, “he says Massimo Zenti, who is now 36 years old and is president of Ain, the Italian Narcoleptic Association. Narcolepsy is a rare disease that affects about 4 people out of 10 thousand, and is very underestimated: in Italy the cases with a certain diagnosis do not exceed 2000.
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Narcoleptics are subject to bouts of uncontrollable sleep and four times out of five suffer from cataplexy: they lose strength until they collapse to the ground after a pleasant emotion, a simple laugh is enough. They have disturbed sleep at night, and upon awakening or just before falling asleep they may have hallucinations, auditory as well as visual.
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“Narcolepsy is a sleep disorder due to damage to the central nervous system. It is almost certainly autoimmune in nature, more than 50% of patients present symptoms as early as 12-14 years, but the average time between the onset of signals and diagnosis exceeds 10 years, “he says Giuseppe Plazzi, neurologist, professor of Child Neuropsychiatrist at the University of Modena and Reggio Emila, director of the Sleep Medicine Center of the Bellaria hospital in Bologna.
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In 2019 Plazzi co-signed an article published in Neurological Science that identified the signs of the disease that should direct the patient towards a targeted diagnostic path. The diagnosis of narcolepsy consists of a couple of tests to be performed in a sleep medicine center: polysomnography and the pre-fall asleep multiple latency test, which assess how easy it is to fall asleep and at what stage of sleep you fall asleep.
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Those suffering from narcolepsy, in fact, fall asleep at a pathological speed and immediately enter the REM phase, that of dreams, without going through deep sleep, as it should be. “In addition to the study of sleep, the diagnosis may require the measurement of orexin in the CSF taken with a medullary puncture”, continues Plazzi. Orexin is a small molecule that has the function of maintaining wakefulness and is synthesized by about 7,000 neurons located in the hypothalamus, “neurons – adds the neurologist – that are not present in narcoleptics”.
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There is no cure for narcolepsy, “but we live with it – says the expert – since we have several drugs that are able to control the symptoms and act by enhancing night sleep, that is, reducing excessive daytime sleepiness, or promoting wakefulness. And then there are behavioral strategies, such as taking short sleep breaks throughout the day, that help patients improve their lives. ”
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Which can be complicated: we are talking about a disorder that has a significant impact on the social, emotional, professional and scholastic level. “For this reason, those suffering from narcolepsy – resumes President Ain – need to be recognized and treated early in sleep medicine centers, possibly by multidisciplinary teams. Very few. And they have the right to drugs wherever they live. But today it is not so”.
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