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.
While, I was passing the time on the journey home, I was catching up on #nnden14 tweets. One of which was this one:
— Kimberly Ratliff (@kimberlyratliff) October 18, 2014
To which I first wrote this as as response….
— Lawrence Chen (@LawrenceChen) October 20, 2014
But, discovered that my second response never left my phone….which was:
@kimberlyratliff Or better yet, I wonder if the people working on the Orexin Antagonist for Insomnia, might lead to it being a treatment for Alzheimer’s dementia patients?
Traveling to this year’s conference seemed to be more challenging that previous years. Not sure if it has been the steady increase of entropy and the proliferation of piles. Or the added joys of my Ataxia.
So, way back in May, when I was trying to decide on what nights to book at hotel….I was looking at what kind of flight itineraries there were available….since it affects whether I would want to fly in the day of the conference (or more likely the day before the conference…to at least start it off with one good night of sleep ) And, whether I would be looking to fly out the day after or stay an extra day of nothing. Had done the latter for the 2012 Conference. It was kind of boring that extra day, though it was nice than when I had exceeded my sleep debt and had slept through my alarm after the 2013 Conference (meaning no hotel breakfast before trip home )
What I found was that flying out Wednesday was substantially cheaper than Thursday….more than enough to justify the extra night at hotel, etc. I should probably have taken Monday off….I should also probably have started packing at least during the weekend before. Instead I left it to Tuesday…and didn’t really start until after 6pm. (with a 2 hour break to whip up supper and sleep, after a little too much time playing “Doctor Who: Legacy"…)
The mistake I made on Monday was starting a new project and feeling compelled to see if it worked Tuesday morning, and spending too much of it figure out why it didn’t. Its actually a small sub-project where the larger project isn’t yet fully working….and has been going on for months already. So progress or not, its still going to be there when I get home. There was also an extra accumulation of trash that I needed to clear out before I could start packing. Like the giant box my new suitcase had come in…back in July, which I was just opening now. Took a while to figure out how to open/close it, etc. Turns out that its not really practical for the kind of packer/traveler that I am. Though probably will just put up with it for a year or so.
Also, I knew that I needed to do one load of laundry for the trip, which didn’t get started until about 5pm. Ended up cramming lots of other items, especially after I discovered that my NNA shirt at the bottom of my hamper pile (I have hamper, but there’s a pile next to it too now.)
Anyways….I had found this great itinerary… Leave home at 10am…. have 3 hours between flights in Dallas, so that I can spend some time at the Centurion Lounge….like grab a quick bite, pop some pills, and maybe even get in a massage. But, then in late august I get a notification that the airline has changed my plans….its down to a 2 hour gap between flights….I had booked Supershuttle way back when I had done Hotel and Airplane…. so debated whether I needed to adjust my reservation.
The plan for returning, would have me leaving the hotel at 10am and getting home while the sun is still shining.
Then a couple weeks later I got another notification of changes to my schedule. They moved up when I needed to leave my #NNFamily…. who I wish I never had too. Much earlier….now I’d have to leave the hotel at 7:30am. Which is bad because for some reason after Labor day…I had stopped only managing to get 5.5-6 hours of sleep each night….so getting 8-9 hours a night. So, I was back to 7:30am being my normalish wake up time. Because of this change, I had contacted Supershuttle to revise my entire reservation which resulted in a 7:30am pickup time. (a bit longer time window than the original, but suspected traffic might be a more of a problem at that time…) It didn’t seem to really affect airport to hotel scheduling….its still when I’m done at baggage claim visit their counter, etc.
In fact, Monday night I had overslept my first dose by 2.5 hours, so opted to not take my second dose and just sleep for about another hour. Perhaps the problem, was that I had been putting off replacing the nasal pillows on my mask ’til after the conference and had finally caved to replacing that night…. Though delaying making a new mouthpiece, since I just had a dental cleaning on Monday, and my bite tends to be off for a few days afterwards….
During #nchat, I mentioned how annoying it was of the airline to have done this to me. Which led to chatting with the airline via Twitter, and they offered (and I accepted) a change to my return flight. Now I don’t have to leave on Monday until 12:30pm…..while I get home at night, its not the last flight of the day (so less worry that the building closes and they kick me out of the building before a taxi materializes…happened to me coming home from Galifrey last February.) It would have me coming back via Chicago….and give me about 35 minutes to make my connection.
I guess I can live with that. Though probably won’t try to see if I can schedule my next Xyrem shipment for the next morning (Oct 21st…last shipment was on Sep 24th.) Speaking of Xyrem…for some reason they been starting to call me around the 14th to try to schedule it…wonder if they’re going to try calling me during my conference window to schedule it.
I was able to get a reservation this year for Black Car to transport me to and from airport. So much nicer coming come from a trip, especially last at night when you have argue the taxi driver that really do want him to come out the airport to pick you up. And, that he’s not coming out there for nothing. Well, if an hour goes by and you still don’t show up and its below freezing and they’ve closed the airport and kicked out into the cold 45 minutes ago….then its because I called a different cab company who eventually came and got me about 30 minutes after that. Instead, Black Car is waiting for you at the airport (sometimes even with a sign.)
Eventually, at about 11pm, I decided I’ve had enough with packing….either I have it or I don’t. And, there’s still a little bit more that I’ll need to do the next morning anyways, when I pack up my CPAP bag. Though as I get ready for bed, I check out Facebook quickly, and end up printing off boarding passes, etc, and retrieve other items from my printer that I had printed for the trip. And, later on as I’m getting ready for bed, I dig out some newsletters/magazines that I had set aside to have something to read should I find some free time during travel or before conference… Stack those on suitcase as I’m not sure if there’s any room left.
Not sure if there’s a raffle this year, but most of what I had set aside for that this year…ended up not making it.
Wednesday, October 15th….9:58am….I’m moving bags out the door, so I can make a quick escape after arming my security system….when the phone rings, though it was just one of my daily telemarketing/charity calls (not sure which, but Google voice has flagged them as spam so they get shunted to voicemail…and no message is ever left….except an occasional one of some background typing….) Though later when I’m in Dallas, I see that among my missed calls was SDS. But, first I have to get to Dallas.
IIRC, there had been a slight tweak to the flight from MHK to DFW….But, Black Car has been so wonderful that there’s no worries about getting there by the cutoff for check-ins. Have had cab reservations, where the driver has to stop and get gas along the way…. (though partly because they lost my reservation…and I had called them, forcing them to find rush somebody over who wasn’t told that I wanted to go to the airport….or something.)
So, I’m sitting at the waiting area waiting for security to open…flight was scheduled for 11:30, and boarding time was to be 11am. There was guy across from me that was already sleeping when I sat down. He wakes around 11am, wondering why security hasn’t opened yet. I’m it a bit of a fog, but I’m pretty sure I hadn’t dozed off….but how can I really tell…. Occurs to me that I get flight notifications to my other phone (since I had switched it after forgetting my usual phone one trip.) Find there are 3 unread texts. The first is the flight is on time and details. Second its been delayed about 20 minutes. Third its been delayed another 20 minutes.
Security opens shortly afterwards…probably sensing that we’re getting restless now, though the guy across from me had just laid back down for more sleep. I rush, because I have feeling like they’re going to be a hassle to clear, even though I’m TSApref. At this airport it just means that I can keep my belt and shoes on, and optionally a light jacket….if I hadn’t crammed the pockets full for all the stuff from my pockets.
No belt this trip…had opted to go casual.
They’re running my bag through xray…hear that they want to run it again the other way. Overhear person at xray machine saying I think that looks like a camera…. the other guy (after getting permission) starts going through my bag….pulls out my Tamrac 5682 camera bag….guess that wasn’t enough of a give away….opens that and takes out camera….yup, its a camera. Then gives it to me to put everything back in its place….restore the spot where I stuff the Ziploc with my Xyrem bottle.
And, then we wait for the our plane to arrive, and for boarding to start. At least they still did some groups….they start with the usual diamond, platinum, priority access, people with children, uniformed military, but then include group one to board first. That’s me.
I always get group 1, because its an Embraer…and I need to find a spot in the limited overhead space for my CPAP bag.
And, then apparently some delay in take off….while I manage to stay awake for it, and go through the American Way magazine…then start into the Skymall catalog, but after a couple of pages, sleep wins and I wake a bit before plane begins descent.
Hmmm, boarding time to my next flight is about 30 minutes away….we’re to be at B2 and I need to get to C10….will I make it? But, we arrive and the pilot announces we’re going to be at B1, except there’s a plane in it and we’re waiting for it. Though neighboring gates are empty??? Eventually we get there….I down to just 10 minutes to get to next flight. Somebody behind me is grumbling that she only has 5 minutes.
I start in hunt of escalator to skytrain, when I pass walkway to terminal C. Decided that the time to go up and down and wait, etc. Might be faster to walk it….well, it might have been if all the moving sidewalks were working. Only the first 2 of 5(?) were… End, up arriving at gate just a little after the start….still doing priority lane, so not much longer before Group 1 is called and I can see about finding my seat.
That flight goes pretty smoothly…I stay awake to finish off the Skymall catalog, and then dig out something to read…a “Generations” newsletter (my first issue since joining NAF, following my recent new diagnosis…) And, its a special one…. Learn that the latest new problem that has been bugging me, might be part of my Ataxia progression…and is mentioned as something that leads to increased risk of falls later on, as it impairs our ability to compensate as well as we have been.
Also came across a research summary of “Modifying Machado-Joseph Disease Progression by Caffeine Blockage of Adenosine A2A Receptors". It starts with “MJD was originally described in people of Portuguese descent and it presently considered the most common dominantly-inherited cerebellar ataxia world-wide. Where apparently “chronic consumption of caffeine…alleviated neuropathological modifications and motor behaviour impairments.”
Hmm, wonder if that’s why my symptoms got worse….following the constant consumption of caffeine. Had at one point largely been completely caffeine free, except for chocolate. I had eventually gone back to enjoying a cup of coffee in the morning, or having a Dr. Pepper or Mountain Dew with Lunch….though still way less than I was before I had decided to try eliminating it.
Being Caffeine free did seem to help when I was on Ritalin as my daytime stimulant….but as I built tolerance the doc only wanted to increase the same dose times, not change timing to try to smooth things out….I switched to Nuvigil (was on Provigil before Ritalin, and had wanted Nuvigil then because paying 65% of its cost is about half of paying 35% for Provigil….this was before Provigil went generic, and Nuvigil got reclassified as a specialty drug…capped to $75/month.)
Not sure if I can train myself to drink more coffee though….sometimes I don’t finish the one cup I make in the morning….or notice until the next day.
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In 2011, I pledged $0.50 per birdie, resulting in $45 to Narcolepsy Network. I was surprised it added to me standing out at the conference that year. Though I heard some people say that I’m becoming someone that is an easily recognized regular associated with the conference…. So, I might wonder if I’m in the right place when I’m looking for the conference area, but others will think they are if they spot me?
During the conference Nicole, had said she’s planning to break 100 next year.
I decided to take that dare, and pledge $1 per birdie in 2012.
That resulted in $121 to Wake Up Narcolepsy.
For whatever reason, I decided to stick with $1 per birdie pledge in 2013.
So, today…as I was coming home from work, I felt really thirsty…so first thing at home is to down a bottle of water.
One of the problems with having fewer co-workers now, is there’s no reminder to take a break around 3pm. And, by the time I realize its passed, I don’t feel like doing anything about it so close to quiting time, plus I’m usually in the zone to get that one last thing done before I call it a day.
Guess it was right to find the
dreaded letter from Nicole Jeray…. this year its for me to donate $129 to Narcolepsy Network.
Earlier this month, I took a little staycation (during which I did my "Narcolepsy: Not Alone" photo)...didn't get all the things that I wanted done, and watched even less TV than I do normally. During this time, I didn't check my 'work' email accounts (including the gmail account that I had associated with my work smartphone, which I haven't had one for a long time since I opted to downgrade to a basic prepaid phone on my own dime.)
When I returned to work on August 12 and started catching up on my email, I found a bunch of emails from my cousin June. My grandfather likely passed away due to sudden cardiac arrest Friday night (August 9th, 2013). He wasn't discovered until Saturday morning, slumped over in his walker, when my grandparent's helper showed up. He was 93 (June 12).
Guess there were other emails to my other gmail account (from my parents), but that account has become overrun by emails from places I've shopped and many discussion groups. Need to make more filters to clean things up.
Anyways, I was in shock. I was quite close to him, he's in many of my early childhood memories. Perhaps because he was the other tall person, we shared some common interests (namely photography and home stereo) growing up and he facilitated my growing interests and lead me in how passionate I am in those areas. Which has led me to being equally so in many of the other areas that I've gotten into both personally and professionally. I'll probably never have the a home stereo system like the system that drew my attention in Taiwan, Photography continues to be a part of my life despite it becoming harder and harder to do. It was how my tremor was making it difficult to enjoy my Photography hobby that had led to the diagnosis of Essential Tremor, not that it was making it hard to do precise mouse clicks at work. I've never really been a big GUI person....and as my Tremor progresses, its not likely to change....
While I hadn't seen him since 2010 when I visited him for his 90th birthday, which as it happened was also during an email move at work. In my mind there was that there ought to be a family reunion in 2015 for my grandparents 75th wedding anniversary (and 95th birthday), where we haven't had much of a family reunion since my aunt Clara had passed (in 2004). There was also the thought of a reunion in 2020 for his 100th birthday.
That makes 2000 our last family reunion (and my first cruise), which was for my grandparents' 60th wedding anniversary and my grandfather's 80th. We did try to have a reunion in 2005 (my third, and final , cruise)...but no Leo, Cathy or Charissa...and my grandparents eventually backed out. They haven't been into air travel for some time, and we weren't able to find a cruise around Los Angeles. We settled on one started/ended in San Diego with arranged car service to transport them to and from the port. Still it was a good cruise, even though I was flying back to so that I could be laid off from my previous job on Christmas Eve.
Then some guilt crept in as I then became angry that I didn't know about his death sooner. Along with trying to figure out bereavement leave policies and whether I could get an airplane ticket, etc. to attend his funeral on August 20th. I managed to mostly keep it together and push through the rest of the day at work. When I finally got home, I was starving and much sadness came in bursts.
Eventually, I call my parents to find out what travel plans they had to give me an idea of what plans I should make for my trip. And, then it was to see about finding an airplane ticket....I had been combing sites earlier looking for tickets for other upcoming trips, like NN Conference in October and Chicago Tardis in November. Which I probably should pull the trigger on purchasing soon, but there's a staging of when I purchase such things to manage the hit on my credit cards....
After some playing around, I find a combination of flying in the morning of August 20th and flying back on the 21st for $440...with ATL being around $470 and ORD being around $415. But, its only for a specific flight out of MHK and a specific flight back to MHK. Moving to either side, practically doubles it.
Also, I had to leave the booking with no seats selected, because the only seats it says are available are preferred or extra room seats, so two levels of extra charges. So, I left it to see what it would do when it tickets, which isn't until the next morning. It has seat assignments for MHK to DFW and DFW to MHK, but neither of the LAX flights have seats.
Should probably get to buying ATL ticket soon (now), though was considering buying ORD first given the notes of only a few seats left at the lowest price.