Spinocerebellar Ataxia

Well, I guess its time I continue with these posts.

 

I had originally intended a big coming out by putting blog posts and such in various places back on September 25th (International Ataxia Awareness Day), but Shellshock ate up my free time….

 

So, I had made a new year's resolution this year to finally get serious and push to get a diagnosis on the problem that's been troubling me for years (now suspect that it goes back to first time I saw a Neurologist in 2000….he had dx'd me with Essential Tremor [aka Familial] .  But, in some recent reading, my symptoms back then were closer to that of a Cerebellar Tremor [aka Intention].)

 

As resolutions go…it wasn't until near the end of February that I took the first step to start seeing lots of doctors, and take lots of tests (lots of time in MRIs and lots of blood drawn…)

 

Also around this time, I decided to drop out as a LOPSA Mentor Program Coordinator.  Where I had gotten a message from Amy suggesting that a 'test' entry I had made was me saying that I had been diagnosed with ALS.

 

Reading that struck me as odd…. I had stuck to symptoms and the frustration of not have a label to request accommodations for, etc.  I don't think at any time did any of my doctors mention ALS.  And, it certainly had never crossed my mind.  Occasionally, MS would get tossed about….(have a friend with that…) other times they seem stunned that my grandmother had Parkinson's.  Of course, the first Neurologist I had seen in 2000 ruled that my grandmother, who had passed in 1995, was probably misdiagnosed … in making his case for a dx of familial tremor.

 

Though it only became a problem with the departure of a former $boss last year.  He had suffered for years with an unknown problem trying to get diagnosed, etc.  So, he was understanding with making accommodations, in most areas I would exceed expectations in my performance evaluations….of course, there hasn't been a state (funded) raise since 2008 when the state stopped paying their part of our health insurance and wasn't sure it would be able to pay out tax refunds, etc.  Some of my $co-workers would turn in self-evals that only had 5 words on them (and two of them is their name.)  I found it impossible to keep it under the 2 page limit…and be in a readable font size 🙂  Its an area I need improvement with….  (there have been raises though, some due to advancement to senior, others being University funded raises…some across the board adjustments, others merit based.)

A few years ago, they figured out what was wrong and eventually found a treatment that has pretty much restored him….  He never imagined that he'd ever leave….


Anyways….on July 21st, I got a diagnosis (of exclusion):

 

Spinocerebellar Ataxia – http://www.ninds.nih.gov/disorders/ataxia/ataxia.htm

 

ALS is a neurodegenerative disorder with various causes, and is the most common of the five types of motor neuron diseases.

SCA is a progressive, degenerative genetic disease with multiple types, about 60 are currently known, which can result in motor neuron degeneration

 

The distinction appears that ALS/MND is a problem imparing the message passing between upper motor neuron (brain), lower motor neuron (brainstem/spinal cord) and voluntary/coordinated muscles.  While, SCA is degeneration of the motor neurons….in particular the cerebellum and brain stem.

 

Apparently, between two brain MRIs taken 3 years apart, there is sign of some thining of my cerebellum.

 

There's an Ataxia Evaluation Panel, that can test for 21 types of Ataxia, which I'm currently waiting for the results of.  Said to take about 6 weeks to run, so was expecting results on October 2nd.  But, so far no news.

A negative result would likely mean that its not something that can be tested by means other than autopsy or its a new type….

 

Hopefully, there'll be a positive result that will tell me what direction I'm heading in and what I might have to look forward to.  Or whether there are clinical trials to explore (from what I've skimmed they all require that I know from this test if I have the specific type, and then as trial protocol perform the evaluation to verify that I have it…)

 

Its a $21,000 test from out-of-network provider that insurance likely won't pay for (they haven't paid for two 'experiemental or investigational' tests from an in-network provider, so far.)  At least there was a patient assistance program so my $1000 deposit to get the test, is also my max out of pocket for it. 

Though this test plus all the travel, and two tests….plus in-network deductible/out-of-pocket max….is nearly the total of this year's HSA contribution. (could be worse….I met my deductible/out-of-pocket max on January 2nd, but because of a patient assistance program …. I only got hit with a bill for $35 [vs $2500].)

 

Meanwhile, before Shellshock was the announcement that our current $boss had turned in his resignation….  Though it'll be a while before he get's a start date for his new job…so he'll be around for a few more weeks (he had moved some time ago to Tulsa, OK…and at first was only on-site 4 days, then 3 days, and now 1 or 2 days….)   Though it wasn't a huge surprise…considering that he used to work for the WSE/devop group, had jumped to our group to be a 'real' system administrator….only to suddenly end up being manager of the unix systems group and datacenter, and pretty much meetings all the time.

 

Apparently its to go work for the same company that his former $boss of the WSE/devop group had left for….but has stayed in Manhattan, KS and only goes into New York office once a month.

 

Which is making me wonder just how much longer I'm going to put up with … shrinking head counts and competencies… and maintaining (my) standards and ethics.  Or whether there's an exit to a new job?

 

Pretty much its just me and an admin that's been here from the beginning (well, he was here here already and has the same name as the land-grant colleges & universities act…)  Along with a guy that had retired from IBM, mainframe testing…where near the end of his career he ran some Linux on those mainframes.  But, a few months into retirement, while looking for something to occupy his days…had the fortune to somehow run into our Interim director, who brought him in as a 90-day contractor to bypass the normal hiring process, etc.  (got a regular appointment the day after his 90-days expired.) And, with current $boss's announcement has asked what other 90-day contractor can he find for us.  Hmm, something that won't require a year to figure out our systems and our processes…..

Last time, $management had just purchased a shiny new Enterprise Chef system… for someone setup and manage….

 

Well, someday soon we'll have the converged infrastructure solution that's to replace everything in our datacenter, except for the parts of it that they couldn't afford (and hadn't pursued getting somebody to take care of it after getting the $admin that had spent last 10 years building it from nothing was encouraged to leave.)