Category: "Rare Diseases"
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.
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…
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: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2739122/
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. 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 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….
Running the Boston Marathon is probably still not going to be part of it
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 KUMC.
Somehow slipped my mind that this year would be a leap year.
Guess that makes it appropriate that Rare Disease Day will be on February 29th this year.
About Rare Disease Day
Rare Disease Day is an international advocacy day to bring widespread recognition of rare diseases as a global health challenge. The day is celebrated on the last day of February every year and this year will be observed February 29, 2012. Learn more about the History of Rare Disease Day, Past Successes or the Goals and Plans for this year.
Anyone can be involved in Rare Disease Day and there are many suggested activities. The day has been established as a grassroots advocacy day and we encourage everyone to participate in some way.
This website focuses on Rare Disease Day activities in the U.S. To learn what’s happening around the world, go to the global Rare Disease Day website at rarediseaseday.org.
What is a Rare Disease?
In the U.S., a rare disease is one that affects fewer than 200,000 people. 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, as many as one in ten Americans are suffering from a rare disease.
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. For 2012, our focus is solidarity.