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…

43 replies »

  1. 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 don’t really have it in me to ask anybody for anything. In the end, donating my brain will be worth a lot more than the blood test.

      • I got a death sentence I have cerebellar Ataxia I am 45 and have had this for years, I want nothing from anyone I just wanna share this story and live the rest of my life as best I can I had a CT Scan and a MRI as requested by a Neurologist both came back as showing no cause so it cannot be cured, I am on meds for poor balance and another for the headaches it causes I still need my walker to walk even though my legs get tired fast and I need to sit and rest I need black shades as my left eye turned and went from seeing double to extremely sensitive to light. my environment still spins and some times watching TV get blurry I need a PCA for things I now need help with I used to do on my own, my motor skills are going I cannot write or put sugar in my coffee without spilling it
        I also had to get a apparatus to shower and get on/off the toilet. Not to be disgusting I cannot hold my water in the mornings, the rest of the day I can control it but in the mornings I start urinating in my underwear and end up with a wet crotch if I do not get to the bathroom on time which is usually as soon as I stand up getting there is a chore with a walker trying to just get in the bathroom

        • The eye issues you describe sound like they may be Nystagmus related. If so, there is medication that helps – ask your doc.

          I know how much it sucks. Best of luck to you.

      • I have read and seen the crying this disease does to people.
        It takes away for the lack of a better word, most of the things we used to do that brought joy to us, I grew carnivorous plantbut did not have what it took to grow them right. I then bought a post,bird feeder and seeds, again I had to give it uo because just walking ti it was a chore so I gave that up too.
        I was diagnosed in 2011 after I was gone to the next town and crossing a overpass even though I was upright I felt like I was going to fall in traffic
        I decided then to go to the hospital and see what was wrong with me
        the nurse did numerous tests and booked me to see the Neurologist who did tests and booked me for a CT Scan which came back with no cause, He wanted to be sure he did not miss anything so he scheduled a MRI that too came back clean, He said I had Cerebellar Ataxia and normally this was caused by drinking,damaging the Cerebellum,Bacteria,or a Virus, and in rare occasions there is no cause showing which was my case(lucky me huh?)because there is no causethere was no way to trat it and it was uncurable. So I will take this to the grave, I asked if meds for another form of it can be taken, he gave me meds to assist with balance, these gave me headaches so I was prescribed meds for the headaches.
        Right now I can be compared to a drunk, I went to the MayoClinic site to read up on this it was weird I had every symptom they listed!
        Here are my daily symptoms
        My entire environment spins
        I need a shower bench
        I need a aperatus to get on/off the toilet
        I need a walker to stand or walk even though my legs get tired fast and I need to sit and rest.
        My left eye seen double now my right eye is extremly senstive to light and I need black shades most times to go outside. and turning in towards my nose a Optomitrist said he could not do anything but when he shined the light in my eye it turned away from the light!
        I cannot trim my own toenails and someone comes in and does it(mail/female nurse or they break off.
        I can no longer write but can type, and am losing my depth peception and usualy spill sugar trying to get it in my coffee or if I reach for something I sometimes miss, Change in speech,Difficulty swallowing
        on top of all that I have a pacemaker with 2 leads in my heart, I needed a pacemaker because I wanna say C.Ataxia stopped my heart and I flatlined at the hospital and was revived, Like my C.Ataxia there is nothing to show why it happened.
        I am only 45 years old. A lot of people cannot deal with this and comit suicide I even considered it but nothing is going to push me to to that!

        • That first physician was off on the causes. SCA is generally genetic, although other things can make symptoms worse. Granted, there is a LOT we don’t know yet, but the MAIN cause is genetics.

          I feel terrible hearing about your case, but I can’t say it’s unusual. Some have it worse, if you can imagine that. I’m lucky, comparatively speaking. I’m definitely impaired in some ways (movement, speech, swallowing, Nystagmus) but I can get around without assistance so far. I don’t expect that to last, but I’ll take what I can get.

        • Well I had this since 2011 I am realistic I probably will not see 80 if I do great but I cannot see it considering what it did to me in a few years, I just hope I am in a PCH so no one in my family finds my body I wanna be cremated there is nowhere here to donate my brain when I die but if its needed for research my brain wont be that far down the list, hopefully they are able to find a cure so no one else suffers from this I have a friend with MS its so close we both suffered some of the same symptoms there are days he cannot stand,,,I can stand just not for long

        • There actually are places to donate your brain – one is a researcher at U of Florida and the other is at UCLA. If you want to know more, trying contacting Dr. Lauren Seeburger’s office at U of Colorado Health. Her staff can help.

    • Hi there.
      you are spot on. Here in Minnesota the cost was about 5,000. back on June 1 2018. We do not have children so we won’t be passing on the marker…..seems the test should be paid for by the research team not the patient.
      Love the humor you bring to such a “in your face” disease. Don’t forget it is all in your head. haha.
      I think all the Ataxia doctors had the professor. MN and CO are pretty much of the same opinion.

      Our Dr told us to go home and find a good support group.

      Good luck with your journey.

      • I’m sympathetic with the researchers. Ataxia is rare and as such there isn’t really a huge pot of money out there for them. Finding money just to keep the lab open is probably challenging enough. From where I sit this is a basic government health issue and we know how that is, right.

        Take care of yourself.

  2. 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.)

    • @ Doc
      That maybe fine if there are meds for it and it may correct the wandering eye thing but it might not correct my left eye from being so sensitive to light I need shades
      I went to a optometrist to see if he could do something and he said there is nothing he could do for me so no offense to you and thanks for your comment but if my optometrist cannot do anything or make a suggestion to me I do not think anyone at this stage can do anything to help me plus I failed to mention I have astigmatism in that eye so does my mother and my 2 brothers, I dunno if that makes a difference and I do not have thousands to throw away on a test for sorry nor do I want help I had this since 2011 and it still bugs me but I learned to adapt to certain things

    • What is the average age a person with Cerebellar lives to?, I had this 3 years now and am 45 years old now I just wanna know cause there are things I wanna do before I go for a dirt nap.

  3. 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.
    This is the organization in Denver and this is the center in Denver.

    Centus Counseling, Consulting & Education
    2696 S. Colorado Blvd., Suite 380,
    Denver, CO 80222
    (303) 639-5240 |

  4. Also, from

    “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.

  5. 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.

  6. 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.

  7. “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…

  8. 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.

  9. 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

  10. Hello Sam, I don’t know you but you have just described the condition that my Partner suffers from. We have been together since 1992 and have been through quite a bit. He had a major fall about five years ago and was taken to the hospital where they told him he would never be the same. Just to be clear, the fall was caused by the onset of this condition suddenly and not the other way around. You described your condition as if you were talking about him. I honestly no known what to do myself. I try to just be there and treat him the same as I have always treated him. He was very depressed and I convinced him to take medication to help his mood. it has helped a lot. He is usually in good spirits. I wish there was something I could do but all I can do is be there. Thank you so much for sharing this story. I have shared it with my family and our friends so they have a better understanding. I think he mentioned something about donating his brain when he passes. We haven’t heard of this test but I will tell him about it. Good luck to you and I hope you are able to continue with your openness which has really help me.

    • Hi Rick. It sounds like he’s damned lucky to have a supportive partner. Not everyone does, and this can be a difficult thing to deal with. I have to do more research on donating my brain, but I think my specialist says the best place to send it is to a center at UCLA. There’s another good one at Florida, she says. If you find out more please feel free to drop back by and let me know. Meanwhile, stay strong.

  11. would cbd oil help…? many types but there has been good reports with epilepsy ms parkinsons cancer….sclerosis and atrophy occur w epilepsy. nystagmus is an epileptic son has it.hes 21. but he was taking medication that caused it by way of atrophy. he had a lot of seizures.
    epilepsies can be progressive as a disease too-some. it could be beneficial as it promotes regeneration in the brain. charlottes web worked for dravetts epilepsy so well . good luck. stumbled on this researching wandering the web lost .

  12. Anti-voltage gated potassium antibodies were found, unexpe tedly during the same diagnosis of Rheumatoid arthritis, Sjogren’s, antiphospholipid, etc. The internist gave me a hug and said she was sorry. The only doctor that had the motivation and know how to give me the gift of those answers. I was under tje care of a neuroligist, cardiologist and electrophysiologist at UCH Anschutz before changing courses. The staff at UCH was less than helpful but I sm relieved you were diagnosed without wasting the rest of your previous time not having this gift of a new, purer perspective! I am learning to come to terms with auto-immune/inflammatory triggered genetic brain disease as well. I wouldn’t wish this on anyone. Knowing I’m not alone brings bittersweet comfort (as none of the family, friends, community surrounding me understand but thank goodness for the ability to connect online). You are in my prayers.

  13. My husband has this disease. I am a nurse and I feel bad all the time because I can’t help him. No one in his family has this disease. He is a man that will give anyone the shirt off his back. He would help people and they didn’t even ask for it.

    • I can’t speak for anyone else but ataxia has changed how I see the world. I think I’m a better human being for it, although the cost is obscenely high.

      It isn’t clear where the gene came from for me. Probably my grandmother. She had something that behaved kind of like ataxia, but we’ll never know. It does leave you feeling pretty upset, though, when you look around and realize you’re the only victim in sight. You don’t want anyone else to have it, but at times you can’t help wondering “why me?”

  14. It’s considerably cheaper to have genetic testing in Europe, any number of labs in the UK, Netherlands, Germany would be happy to do this testing for you. You would need your doctor to referrer you (fill in a form with your clinical features and agree to give you the results) and a send a blood sample. You can have gene panels specific for these conditions (around £800-£1000) or have full exome sequencing (~£1900). Hope this helps.