Cerebellar ataxia and me: trying to live while the brain is dying

Spinocerebellar ataxia sucks the joy out of another day…

As I have mentioned before, I have a degenerative brain condition. It’s called spinocerebellar ataxia, and is essentially an atrophying of the portion of the brain that coordinates and regulates muscular activity. If you read the details at NIH you’ll probably understand pretty quickly just how nasty it really is. It has taken away a lot of what I love in life and is, for now, uncurable. For the most part, there is also no treatment for the symptoms.

My doctors at the University of Colorado Health Center are some of the best in the business, and we have had frank conversations about what this disease means for me. They have encouraged me to join some online support networks and to have a DNA test, which will hopefully confirm the diagnosis and tell us for sure which variant of the condition I have (there are several). They believe I have Type 6, but can’t be certain without the test.

The reason they want me to have the DNA test is … well, it’s a bit cold, but also obvious. While there’s no hope for me, probably, whatever data can be gleaned from my case might help researchers improve their understanding of ataxia and perhaps even help effect a cure someday. (I should note that one of the specialists in question is more hopeful about a cure or treatment in my lifetime than the others. I hope she’s right, but I suspect she isn’t.)

I’m perfectly fine with their motivations. I don’t expect to survive this damned thing, but if I can do anything to help others I’m all-in. This is true generally, and it’s especially important considering that ataxia is genetic. It may be stalking my sisters. My cousins. My nieces and nephews. This is, in all likelihood, the disease that killed my grandmother and her sister, and maybe her brother, as well. If I thought my death would save those near me, I’d pull the plug today.

There’s a problem, though. The doctor’s office got back to me yesterday on what goes into the testing process. I had expected that the test would probably require some out-of-pocket expense on my end, and I was thinking the hit could be a few hundred dollars. As it transpires, the testing lab is out-of-network. My insurance will cover 60% of the cost. Which means that my investment would be – brace yourself – $7,000.

That’s a lot of money. Specifically, it’s more than I can possibly pay.

Visits to the doctor to discuss my progress – okay, my digress – are always hard. I have accepted my lot and vowed to wring every last drop of joy from whatever time I have left. And in truth I have probably been happier over the past year and a half, if you can believe it, than at any point in my life. Normally I can plow through the day dealing with work, reveling in my photography, enjoying time with friends and loving every second of my time with my new girlfriend and her psychotic Blue Heeler. My reality is my reality and every time I stumble or fall, every time I see someone playing basketball or soccer and know that I can’t anymore, every time I have one drink and it hits me like I’ve had five, I’m reminded of how different my future will be from my past. But I don’t dwell and I don’t let it depress me. To paraphrase Zen master Bodhidharma, it is what it is.

The doctor visits, though … For an hour or so every few months the whole world boils down to what I can expect. Yesterday, for instance, there was a moment where the doc and I were talking about the normal advance of ataxia. I haven’t noticed any worsening lately, which is great, but the way it usually works is that you hit a tipping point where it begins going downhill rapidly.

I remember how my grandmother’s illness took her out. She went from being perfectly functional to being a vegetable, unable to move, unable to communicate, unable to even let us know if she was still there, in a matter of two or three months.

There’s a moment of awkward silence at this point of the conversation. How can there not be?

I don’t know how long I have. Maybe 20 years. Maybe five. Maybe a bus hits me tomorrow and it doesn’t matter. But in my mind I begin planning for that moment where I feel myself falling off the cliff. Planning. Thinking thoughts nobody in their right mind ever thinks.

My sense of humor has always embodied a dark streak, and the past few years have honed it to a positively vorpal edge. I sit there and crack jokes about wasting, about dying, about having my brain sawn out of my head before I’m cremated. It’s inappropriate in the extreme and those who hear it have to feel horrid when they catch themselves laughing.

I think you get to a certain point where you use whatever you have at hand to deflect talk away from what you’re really thinking about.

It kills me that I can’t afford this test. The doctors understand, and we talked about keeping tabs on research trials that sometimes, because they’re having trouble rounding up enough subjects, will offer to pay for the testing. I plan on doing that. We also talked about what I need to do to assure that my brain is donated to the right places when I die, and soon I need to get serious about writing up a will. I don’t have much to leave anyone in the way of material things, but if you know me, you understand that nothing I could ever dream of owning would be of more value to me than my brain.

I never feel quite so helpless as I do on days like yesterday. And I don’t deal well with helplessness. Please bear with me…


  • Back nerve?

  • Frank Balsinger

    There are no words. But I’d be remiss if I didn’t ask…have you considered a site like gofundme? It wouldn’t be like you’re asking for a handout. You’re asking for a relatively small amount for testing that could contribute to the furtherance of the research.

  • I’m so, so sorry Sam. I’m here for whatever you need. (Although I don’t have a spare $7000, I can pitch in with others.)

  • I know we don’t get along….haven’t really since the 7th grade…but no one should have to go through this and you are one of my husband’s oldest friends. Please believe me when I say I am truly sorry for what you are having to deal with physically, emotionally, and psychologically. I will make a suggestion that the doctors may or may not have made. You mention support groups but, in times of grief and resultant depression, nothing has been more helpful to me than one-on-one counseling. There’s a wonderful group that I’ve worked with and recommended to others with great success. (Don’t let the spiritual nature of the organization turn you off – they are open to all belief systems.) While friends and family can be a great source of comfort and support, a professional with specific training, no agenda, and no prejudices can often provide a level of support that others cannot. They are affiliated with Wake Forest Baptist Health but are accredited through an organization based in Denver. Just a suggestion but might be worth checking out. http://www.carenetcounseling.org/aboutourpractice.html
    This is the organization in Denver http://www.samaritaninstitute.org and this is the center in Denver.

    Centus Counseling, Consulting & Education
    2696 S. Colorado Blvd., Suite 380,
    Denver, CO 80222
    (303) 639-5240 | sgeissler@centus.org
    Website: http://www.centus.org

  • Also, from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3138714/

    “Athena offers a “Patient Protection Program” that caps out-of-pocket payments at 20% of the price for cases where Athena directly bills the patient’s insurer. However, this likely covers only a small minority (10–15%) of patients tested by Athena. Some patients who availed themselves of Athena’s Patient Protection Program appreciated the out-of-pocket payment caps. Under this program, Athena takes responsibility for seeking reimbursement from payers and insurers for the other 80%. Athena also has an “Athena Access” program for those who cannot afford the 20% copay, which entails case-by-case review by Athena; analysis of SEC filings suggests that this covers relatively few patients. The 20% copay cap for patient outlays under the Patient Protection Program is a standard option, although many patients appear not to know about it, and those in certain health programs are not eligible for it. Athena did not provide statistics on the percentage of patients covered by these two programs, so we are unable to estimate their actual impact. Since the program is discretionary and operated by Athena, independent data about how many people use it, which insurers and health programs are covered, and other details are not available. SACGHS might consider requesting details about both the Patient Protection Program and Athena Access from the company, since these details were not shared with us.”

    There may also be financial assistance through a group such as this one….just an idea.

  • Just know that while I’m not in touch with any predictability or consistency, you are always on my mind. I wish I could offer more than to simply admire your grace, fortitude, and yes, even your dark humor, Sam. I’m holding out hope that it’s the bus that takes you out–but that you don’t meet that bus for another 30 years or so. That should give you enough time to change a few more lives and make a few more waves. Keep fighting the good fight, Sam.

  • Geez, Sam…..I am shocked and saddened to learn of your condition . I have no words to offer solace and I am sure you have had just about every emotion possible in reaction to the diagnosis. I admire your fortitude and applaud your willingness to help others for the greater good. My wife’s cousin has a stepson with Friedrick ‘s Ataxia and has responded better than they though he would. This is certainly a shitty luck of the DNA draw and I hope you will be able to get the test as well as overcome the symptoms as best you can. Take care , friend and perhaps I will be able to make a trip to CO for a visit soon.

  • “I have probably been happier over the past year and a half … than at any point in my life.” I believe you, I’ve seen it for myself. It’s mighty armor…

  • Words fail me. More than happy to pitch in–let me know.

  • I really appreciate the thoughts. As I keep saying, my greatest skill in life is making friends with the best people in the world.

    A few people have suggested pitching in, starting some kind of fundraising effort and the like. As gratifying as it is to hear that, I’m not going down that path. In the end, that bit of data won’t matter nearly as much as donating my brain, so I will strike a blow for research when all is said and done. But the idea that people would be willing to do that is humbling in the extreme. Every day at work reminds me how little I’m valued, it seems. But every interaction with my friends convinces me that I’m not only valued, I’m valued in the best way possible.

    Many thanks. And now I’m to set about living as though my destiny is 20 years instead of 5 (or the bus). That’s the best way, the only way.

  • Sara Robinson

    Love. Just love. Always.

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  • In 2004, I was also ‘diagnosed’ with this SAME ‘type’ of Ataxia, (Spinal Cerebellar Degeneration.) My strong Christian friend talked me into writing/blogging about this sad disease and sharing my ‘personal progress DIAGNOSIS: ATAXIA ~ story , the response I received in writing this, prompted me to write my follow-up: DIAGNOSIS: ATAXIA ~ CHAPTER 1.

    My, (prejudice) Dad is encouraging me to “write a book.” The last several months, (as he has read my writings and become my Biggest-Fan in my compositions). Dad keeps telling me, “your writing is “heads-and-tails” better than a LOT of the stuff that somehow gets published!” (that being said, I realize he IS my Dad and he enjoys knowing that I have developed a ‘unique’ style). (I HAVE had several short-stories published).

    The reason, I want YOU, (specifically) to read my story, is because I believe you might benefit from knowing someone else who has this and also to know how I ‘cope’ every day with the same issues of embarrassing “falls’, breaking bones from those falls, walking like I’m drunk, even having FAMILY And ,so-called Friends, ignore me and leave me out of numerous activities because they KNOW I can’t do much anymore! (and that one, is VERY, VERY hard for me to ‘accept’, because I was Ultra active in sports in High-school and used to teach High Impact Aerobics and practiced weight-lifting.

    My avenue in order to ‘cope’ is simple: Like you mentioned, IF I can help another person that is also facing this disease , or similar; then God help me have the strength and give me your ‘wisdom’ so I my life can be ‘productive fruit’ for somebody else! (after all, it’s what we ‘give back’ that will be of value in the end of our time on this Earth). The only thing we will take with us … is our Integrity.

    Sam, I don’t know you, but I CAN honestly say, “I Love You” and I hope you feel that coming through your computer screen!

    Have a Wonderful, Peace-filled Day! (by the way – You are Lucky to have a girlfriend. God has given you her and you even get to enjoy her doggie).

    Most Respectfully,

    Growing In Christ,

    Jennifer Lewis


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