Category: "Spinocerebellar Ataxia"

You can continue to support NAF when shopping at Schwan's


Recently, there had been a fundraising campaign where Schwan’s was donating 20% of purchases made from January 30th, 2015 to March 16th, 2015 to NAF (National Ataxia Foundation) for research, education and support for Ataxia.

I had intended for years and years, about sometime after I had moved away from where one of my friends drove for them. But, I just never worked up to doing it. But, now that I’m less mobile, it seems my freeze has become somewhat bare and there are other things I wish I had on hand, but never seem to get. Though I had done frozen food by UPS from other online places in the past, but those places have come and gone.

So, I had every intention of placing an order before the NAF conference, but as time past….I ran out of time. Wasn’t sure how long it ran after the conference, but intended to do it first thing….though when I saw that I had until March 16th, I didn’t feel as rushed. Except life continued to happen, and suddenly found myself forcing myself to finally do it on March 15th.

Just moments ago, I was curious to see how the campaign ended….since the goal was to raise $5000, and before my order it was only $270…guess it came to a bit under $300. But also found this note:

You can continue support NAF when shop with Schwan’s

Thank you for your support of this campaign! NAF’s fundraising campaign period for the “Research, Education, and Support for Ataxia” has ended but NAF will continue to earn 5% until January 30, 2016. You can continue support NAF when shop with Schwan’s through this campaign page. Your continued support is very appreciated!

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It's World RARE Disease Day! 2015 #RareDiseaseDay2015

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.

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NN Conference 2014 ... part 0 #nnden14

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 &#58;&#122;&#122;&#122;&#58; ) 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 &#58;&#46;&#46;&#40; )

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.

12:10pm maybe.

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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Spinal? Cere? Ataxia? #IAAD

Oh, Spinocerebellar Ataxia (SCA). And, today is International Ataxia Awareness Day, which is significant because…

After many years….since ~2000, and constantly being bounced to ENT’s by various doctors, including several neurologists. Where one neurologist would just send me to a different one every time when they determined the gait imbalance wasn’t due to inner ear (and suggested neurological involvement.) Because he once shouted, “that’s just what ENT’s say when they don’t know what their doing.” Wonder what that says about him. Eventually told me to not bother making any more appointments with him.

Had to convince primary to refer me to another neurologist, even though he said my condition getting worse should be reason enough to get seen again. Made a formal complaint about him, which resulted in nothing. Though second neurologist pretty much did everything the first one did….and after a couple more years, I managed to get a shotgun referral to KUMC (appointments with both Otolaryngology and Neurology)… Otolaryngologist indicated that neurologist seemed to be onto something, and I never heard of follow up again….though the possibility of a neuro-otologist was mentioned.

In last few months, I did get pushed into other directions (Rheumatologist, Hematologist) and lots and lots of blood tests (lab tech commented that it was getting harder and harder to get blood from me…) Including a couple that insurance wouldn’t pay for. During a visit with Neurlogist, the word Ataxia did come up. Its hard to describe what I’m experiencing, and even harder when you don’t want them to immediately summarize everything as “balance problem – go see an ENT".

Which is probably the real reason I’m on the fence about my recent diagnosis….and the recent test….

So, on July 21st, I was given the diagnosis of Spinocerebellar Ataxia. And, genetic testing (from Athena Diagnostics) was suggested. It would very specific and more expensive than 23andme. Think I did 23andme about 5-6 years ago, which at the time, I was kind of hoping it would jump out and tell me what all ails me…though I guess these discoveries take time (or they get correlated from people after they’ve been diagnosed.)

Though in preparation for this appointment, since genetic testing had been mentioned in a previous appointment. I had downloaded my raw data from 23andme, and then later discovered Promethease. It can work using v3 or v4 data from 23andme. When I originally signed up for 23andme, they were on the v2 platform….later when v3 came out, I waited a year or so before taking the plunge on upgrading. Wonder about v4, it came out after the FDA slapdown…. still no news on when that side of 23andme will return. Wonder if there’s an upgrade to v4 available….hard to tell if there would be value though…

23andMe v4 differences

After getting the Promethease report (on July 2nd, 2014), it made for an interesting read on what it had to say about various key items, like:

CYP2C19 Intermediate Metabololizer: Your body breaks down some medicines at a slightly slower rate than normal rate, such as anti-epileptics, anti-depressants, anti-platelet, anti-ulcer, and hormones.

various SNPs for increased risk for prostate cancer, poorer metabolizer of serveral popular medicines, such as plavix patients get less benefit and have higher risk for adverse cardiovascular events. 2.5x increased risk of Male Pattern Baldness, various snps about increased risk for breast cancer.

lack of empathy? You have a SNP in the oxytocin receptor which may make you less empathetic than most people. When under stress you may have more difficulty recognizing the emotional state of others.

Lactose intolerance risk; probably darker-skinned, Asian ancestry; Dry earwax, no body odor, likely Asian ancestry; introversion; depression resistent; coumadin resistance; lower OCD risk, higher ADHD risk, more alcohol dependence; lower risk of postoperative nausea; increased obesity; 3.23x risk for Alzheimer’s; increased risk for type-2 diabetes; increased risk of developing rheumatoid arthritis; 3x higher risk for age-related macular degeneration; higher risk for glaucoma; reduced risk for bipolar disorder;

rs1154155(G,G) – 2.5x increased risk for narcolepsy – however, the previous auto-immunity causes Narcolepsy finding was retracted after I had run this report, and this SNP was apparently associated with the T-Cell receptor that had been discovered leading to the original report of Narcolepsy being auto-immune. Associated with the SNP, it does note that including this newly discovered T cell receptor gene, a person has only a 1.5 percent chance of developing Narcolepsy…

rs3758391(T,T) – Increased longevity. Less mental decline with age. rs17070145(T;T) – greatly increased memory performance. 4.5x increased myopathy risk for statin users. rs738409(C;C) – less common, better at detoxing alcohol. gs104 – Restless Legs Syndrome risk. rs10464059(A;A) – increased risk of developing Parkinson’s Disease rs1042522(C;G) – Slightly increased lifespan. rs3819331(C;T) increased risk of autism.

gs132 - A blood group; gs159 - CYP1A2 fast metabolizer, means that you are less stimulated by caffeine.

And, along the way, there were also various SNPs that contradict the above sampling of SNPs….

Wasn’t sure what I should look for though related to my current problems though…

Later at the July 21st, appointment and having the diagnosis…along with its spelling, and having saved the Promothease interactive report locally on my Chromebook. I searched it to see what it would find on Spinocerebellar Ataxia.

There were two hits. rs72554634(-;T) Mutation of a putative mitochrondrial iron transporter gene (ABC7) in X – linked sideroblastic anemia and ataxia. And, rs29001665(C;C) - apparently associated with Spinocerebellar Ataxia autosomal recessive 1, whatever that is. Meanwhile, there were too many to count (>50 hits) for Thalassemia….

So, after some time had passed, and still not sure who all I should pass the news to or whether I fully accepted it. And, how much value would I get from knowing my specific type of SCA. During the initial research phase, I had come across this link:

It was an interesting read/skim, though it has me more confused than I was before…

Well, I basically can still walk, which is pretty much all I can do to get around other than paying for car service (like once $540 for a roundtrip to KUMC…instead of a more typical ~$240 (40/hr), while the usual is ~$240, along with ~$120 roundtrips to see doctors in Topeka.) Or the occasional taxi, and when it works regular transit, though I should probably find out about the special transit someday. Only had a few bad bumps….not really sure how to describe how I banged head on a door jamb on one side of the hallway (last Dec.) Except that it was dark, so I couldn’t tell what vertical was….

Though a couple weeks ago, I did veer left into wall while walking down a long hallway. And, last night as I was leaving working, I almost fell while going up stairs to leave.

I had mentioned once to a neurologist, that I was having trouble with buttons, so often when I wear polos/henleys…I don’t have any of the buttons done up. It was paralleled what was troubling me back in 2000, where I was having more and more trouble making precise mouse clicks. could not achieve convergence. And, more and more, I seem to have trouble getting letter to appear in the correct order when typing. Though I think its these mushy keyboards that are to blame. &#59;&#68; Been meaning to try out a keyboard with Green Cherry Mx keyswitches. Not sure why I haven’t gotten a Blue Cherry Mx keyboard yet, which I’ve been longing for forever….though I’m currently using a Brown Cherry Mx keyboard, which seems to have helped a bit…at least in the beginning.

Being able to type is kind of important, since I work with computers. Don’t know if/how to ask for help, assuming there is help…

Though back in 2000, the primary reason for wanting to have something done was that it was interfering with my photography hobby. Though the following year, it was largely forced from film to digital where image stabilization has become an essential feature in my cameras.

Also wondering if my recent (last year and half) problems with vision is related or not.

Along side all this, I also have a variety of other dx’s….like sleep apnea, narcolepsy with cataplexy, wed (rls), peripheral neuropathy (with pain, especially in my right leg), essential tremor (though other docs have said they don’t see specific evidence of it….and how that original diagnosis was made, never really sat well with me…)

That Neurologist started by saying that he thinks my grandmother has been misdiagnosed and doesn’t have Parkinson’s. What I/we have is a familial tremor…. At the time, my grandmother had been dead for >5 years…

Years later, doctors always seem surprised I bring up my grandmother’s Parkinson’s as part of my family history….it never seems to be part of their records. And, eventually they just seem to dismiss it.

Of course, that was one of the problems I had doctors….they would seem for the first time, and sound like they’re listening…and then the next time I see them…they’re repeating the conclusions that previous doctors have repeated.

Recently during my research, I came across a comparison of Essential Tremor vs Intention Tremor (aka Cerebellar Tremor)….the description seems to fit more what I had original described back in 2000. Though later there doesn’t seem to really be anything in the way of treatments for it. Basically, the same drugs for Essential Tremor can be somewhat helpful for Intention Tremors. While I get some benefit from my current medication (things are so much worse without it), I am wondering if there’s something better as things seem to be worsening.

The gait imbalance…which was a lot like having just gotten off of a cruise ship (which I had experienced in November of 2000), came to haunt me in September of 2002 (it has crossed my mind that it was connected to being around the 1 year anniversary….) and comes and goes quite regularly until October 2012 where its now a constant in my life….

Then, the Neurologist at KUMC changes things. She had told me once that when my referral had come in, she saw that I had already been through the usual many times and still no answer… so she had taken the case knowing that it would be a challenge to go beyond… And, her name being Dr. Haas, which Google Voice kept transcribing as Dr. House….. I did have a dream once along those lines, where they finally came out with the answer. Which was that time I paid more than double the usual to make an appointment with Dr. Haas. Though its probably because along the way, an auto-immune disorder was suggested (and later explored) which tends to match some of the themes that come up often on “House".

So, no answer, but some additional testing, which had suggested a change in direction to look for cause, along with a referral to a Rheumatologist.

Earlier this year, I was asked what my ultimate goal was….to get back to being able to do everything (which I didn’t think was all that much….still not planning to run the Boston Marathon &#59;&#41; before things go this bad (where the big turn was around October 2012.) Doc then asked what my backup goal would be….with the addition that they might never come up with a diagnosis.

But, that was my backup goal. To at least have a name to explain my problem. Especially, if it gets to where I need to ask for more (or official) accommodations at work. Though now it has me wondering if I need to reassess my future…. am I still planning to work until the end of time (Jan 19, 2038.) and enjoy all the things I’m hoping to do when I retire….and will I be able to afford the alternative.

Unfortunately, I got my backup goal…. not sure how I feel yet.

While there’s a recent petition to get Narcolepsy into the SSA Blue Book for Disability…. I had discovered during my Internet research on Spinocerebellar Ataxia, that its not only in the Blue Book, but its on the Compassionate Allowances List. Not sure when I that would be for me…..I’d rather still live out my dream…. &#41;&#45;&#111;

Running the Boston Marathon is probably still not going to be part of it &#59;&#68;

Meanwhile…back on August 20th, I had my blood drawn for the testing with Athena Diagnostics. And, after a few weeks, I found that the lab processing takes 6 weeks so they should have results on October 2nd…which will be mailed to my new doctor at KUMC (Dr. Bittel). I first met her briefly during the appointment I had on June 2nd, since it was costing me over $500 to be there, having me do another EMG to see if that was the right direction to be looking (it being negative evidently meant the problem was upward…as in spinocerebellar….) Where I was then slammed with a pile of blood tests on the 4th, which because the lab had submitted an incomplete claim to my insurance, they had tried to charge me the whole amount ($1534.26)….I asked my insurance why I should be responsible for the lab failing to submit a proper claim. Insurance company had said I should get a response from them within a week. A couple weeks later I got a response. They had gotten the lab to provide the missing information so that the claim could be processed. In the end…only $83 (lab got $286.43, wrote off $1164.83). $83 was for a test that insurance determined to be experimental or investigational. Back in March I paid $119 for a blood test that got this same code. Hmm, don’t seem to have a digital record of that….hopefully its in one of my ‘to scan’ piles.

Wonder what the claim for the Athena Diagnostics testing is going to look like, since they’re out of network.

I hear there’s an Ataxia Conference….wonder how it compares to Narcolepsy one? Hmmm, its in March…and its in Denver, CO….though not the same hotel as the Narcolepsy Conference. Hmmm, $159+tax for conference rate rooms….while for the Narcolepsy conference room rate is $99+tax. Probably have different requirements for the venue/hotel…. in accommodations…. For the Narcolepsy Conference….its held on a weekend in October that is not a Jewish holiday where they can get the lowest room rate at a hotel in the target city (plus be big enough to hold us…) Been involved in other conferences that use similar measures to select when their conference is. Guess I’ll plan to go…as a first timer….

Apparently, this year’s date was advanced a week and was due to being offered better meeting space. Also, attendance is often over 500. Guess its a good thing I missed out on getting a registration from Gallifrey One, when they rescheduled registration opening to during my first encounter with Neurologist at KU