What is a Rare Disease?
In the U.S., any disease affecting fewer than 200,000 people is considered rare. This definition comes from the Orphan Drug Act of 1983 and is slightly different from the definition used in Europe. There are nearly 7,000 rare diseases affecting nearly 30 million Americans. In other words, almost one in ten Americans are suffering from rare diseases.
Besides dealing with their specific medical problems, people with rare diseases struggle to get a proper diagnosis, find information, and get treatment. The rarity of their conditions makes medical research more difficult.
Oh yeah…this is every year on the last day of February…not just Leap Year’s! Perhaps I should shift my advocacy focus to something along these lines, since I have been diagnosed with two rare disease, since I blogged about “RARE Disease Day 2012″.
First is Narcolepsy, which I’ve had symptoms that could be argued trace back to late Elementary/Early High School (which got missed, since teachers were on strike for most of that year.) Though didn’t really become a significant problem to me, personally, until sometime during Freshman year at University (where, I had come across a clipping that there were pockets of H1N1 cases reported for the ‘86/’87 flu season.)
I received my second/current diagnosis of Narcolepsy in July 2012.
The first one in 2011 was based on Neurologist re-review of MSLT, but then he reversed his diagnosis for Narcolepsy on the basis that my Cataplexy wasn’t of the severe kind, and by spinal tap.
DSM-5 says narcolepsy is periods of an irresistible desire to sleep, or to fall asleep or nap with the same day, regardless of appropriateness of time or place. occuring at least 3 times per week over the past 3 months, accompanied by at least one of the following: Adult Cataplexy, Childhood Cataplexy, CSF Hypocretin <= 110 pg/mL, 4. PSG/MSLT finding.
ICSD-3 defines narcolepy type 1 as daily periods of irrepressible need to sleep or daytime lapses into sleep occurring for at least 3 months. With the presence of one or both of: Cataplexy and MSLT finding, or CSF hypocretin-1, of either up to 110 pg/mL or <1/3 of mean values obtained in normal subjects.
And narcolepsy type 2 as daily periods of irrepressible need to sleep or daytime lapses into sleep occurring for at least 3 months. And, requires 4 other tests, which are MSLT finding, no Cataplexy, no CSF Hypocretin-1 test or that the test result was > 110 pg/mL, and that the the first two can not be explained away by other causes.
Guess its a snap to never diagnose people with type 2, once you dismiss their reports of Cataplexy.
ICSD-3 also has a subtype of type 2 narcolepsy – due to a medical condition, such as PD, MS, head trauma.
Cataplexy is estimated to be present in ~70% of Narcolepsy cases, but I had heard that the severe form affects less than 10-15%. It is said that Narcolepsy with Cataplexy, “affects about one in every 3,000 Americans. More cases without Cataplexy are likely to exist.”
In the research for this post, I came across “Predictors of Hypocretin (Orexin) Deficiency in Narcolepsy with Cataplexy", where the thresholds are revealed to be from statistical analysis, using R. Where the optimal cutoff for CSF Hypocretin-1, the ROC curve analysis defines a gold standard of approximately 200 pg/mL as the cutoff for the diagnosis of Narcolepsy without Cataplexy vs those with, and is convenient with previously defined cut offs of low (<=110), intermediate (<=200), or normal (>200), where Narcolepsy with Cataplexy are those with 110 pg/ml or less. Intermediate….do we really exist? From what I recall reading (while I was required to lay as still as possible on back follow the spinal tap), those values were again through statistical analysis…putting the mean for Hypocretin levels for normals at ~399 pg/mL, and that 110 pg/mL was two standard deviations below the mean.
Also interesting, was “Survival curve analysis…no patient developed Cataplexy more than 26 years after onset of sleepiness, and that half (48%) with Hypocretin deficiency would eventually develop Cataplexy. When did my onset of sleepiness occur, and how does that correlate to where I had a Cataplexy episode in May 2012 that landed me in the ER (the outcome of that experience was a Dx of Cataplexy.)
And, then, I found “Complex movement disorders at disease onset in childhood narcolepsy with cataplexy", where ” The reported movements are not commonly described in adulthood Cataplexy that is typically characterized by jaw dropping, facial flickering or head dropping […], as well as by twitches of the face and of the limbs occurring during a Cataplectic spell and generally assessed by means of questionnaires” Hmmm…..
See: Narcolepsy Fact Sheet - NIH: NIINDS for more information.
Insomnia Awareness Week is sponsored by the American Sleep Association. From April 1 - 7, the ASA and its affiliates will be increasing awareness about Insomnia.
The primary objective of this campaign is to improve the nation's knowledge about the signs, symptoms, complications, diagnosis, and treatment options of Insomnia.
SYMPTOMS of INSOMNIA
- Difficulty initiation sleep
- Difficulty maitaining sleep
- Mind racing and 'clock watching' during the middle of the night.
- Anxiety about not getting enough sleep
COMPLICATIONS of INSONIA
- Anxiety about sleep
- Feeling unrefreshed after sleep
In late December 2010, the U.S. House of Representatives officially designated the month of March as National Essential Tremor Awareness Month. We invite you to get involved in helping us raise awareness in communities throughout the U.S. and abroad. With 10 million Americans alone affected by this life-altering condition and a general lack of public understanding, we need your help to spread the word.
What is Essential Tremor?
Also known as familial tremor, benign essential tremor or hereditary tremor, essential tremor (ET) is a progressive neurological condition that causes a rhythmic trembling of the hands, head, voice, legs or trunk. It is often confused with Parkinson’s disease and dystonia. Because of stereotypes and a lack of awareness, many people with ET never seek medical care though most would benefit from treatment. Learn more about ET.
Narcolepsy Awareness Week is sponsored by the American Sleep Association. From December 1 - 7, the ASA and its affiliates will be increasing awareness about narcolepsy.
The primary objective of this campaign is to improve the nation's knowledge about the signs, symptoms, complications, diagnosis, and treatment options of narcolepsy.
SYMPTOMS of NARCOLEPSY
- Excessive daytime sleepiness
- Hallucinations when going to sleep or waking up
- Feeling paralyzed when going to sleep or waking up
- Muscle weakness associated with intense emotions
COMPLICATIONS of NARCOLEPSY
- Increased Risk of Motor Vehicle Accidents
- Difficulty achieving life goals secondary to daytime sleepiness
- Decreased Mental Performance Find Out More About Narcolepsy
Sleep Apnea Awareness Week is sponsored by the American Sleep Association. From October 1 - October 7, the ASA and its affiliates will be increasing awareness about the dangers of untreated sleep apnea.
The primary objective of this campaign is to improve the nation's knowledge about the symptoms, complications, diagnosis, and treatments of sleep apnea.
SYMPTOMS of SLEEP APNEA
- Daytime Sleepiness
- Nighttime Gasping, Choking Sensation
- Morning Headaches
- Morning Sore throat
- Behavioral Problems in Children
COMPLICATIONS of SLEEP APNEA
- Increased Risk of Motor Vehicle Accidents
- Increased Risk of Heart Attack
- Increased Risk of Stroke
- Decreased Physical Performance
- Decreased Mental Performance
- Increased Risk of Deadly Heart Rhythms
- Increased Difficulty Managing Diabetes
- Increased Difficulty Managing Blood Pressure