Today is the International Rare Disease Day, so here you are a video about a girl who suffers from one of these rare diseases.
This 17-year-old teenager from North Fayette, Pa., has a rare condition called Kleine-Levin Syndrome — or “Sleeping Beauty Syndrome” — that makes her sleep 18 to 19 hours a day.
And when she does wake up, she is often so tuckered out that she is in a sleepwalking state and doesn’t remember doing basic things like eating, according to KDKA-TV.
Nicole’s somnambulant state has been so severe that she once slept through the holidays, awaking one day in January when she finally opened Christmas gifts alongside her family, according to ChartiersValley.Patch.com.
“She’s never really adjusted to it,” her mother, Vicki Delien told the website. “She’s 17 now and it really upsets her. She’s missed out on a lot.”
Delien told talks show host Jeff Probst (see video above) that the teen has at times slept 32 to 64 days in a row, waking only in sleepwalking mode to eat.
Kleine-Levin Syndrome is incredibly rare, only affecting about 1,000 people worldwide, and very hard to diagnose.
In Nicole’s case, it took 25 months for doctors to diagnose her, according to ChartiersValley.Patch.com, and everything from a virus, to epilepsy to West Nile was bandied about, including, unfortunately, the possibility she was faking it for attention.
When a typical episode of Sleeping Beauty Syndrome begins, the patient becomes progressively drowsy and sleeps for most of the day and night, waking only to eat or go to the bathroom, according to the Klein-Levin Syndrome Foundation website. “When awake, the patient’s whole demeanor is changed, often appearing “spacey” or childlike. When awake he experiences confusion, disorientation, complete lack of energy (lethargy), and lack of emotions (apathy).”
Patients also report that everything seems out of focus, and that they are hypersensitive to noise and light. Some patients also have intense food cravings and/or uninhibited hypersexuality.
The Delians did not say whether Nicole has experienced these symptoms.
There is no known cure, but Nicole’s family is using a combination of epilepsy and narcolepsy medication to minimize the incidents to just two a year.
And this is a link to the Official Webpage for Rare Disease Day