About Me

My name is Jens-Ingo Farley. I was born in California U.S.A. in 1967, still live there, and have a bachelor’s degree in computer science. I have an hereditary ataxia, or more specifically spinocerebellar ataxia type 3, also known as SCA3, also known as Machado-Joseph disease (MJD). I share this specific SCA3 diagnosis with between about 660 and 3,330 people in the U.S. but more generally between about 3,000 to 16,000 people in the U.S. with any form of SCA, in 2014.

See here for more on the rarity of the disease.

I casually refer to what I have as ataxia, which is really just shorthand for its full name. I prefer using SCA3 over MJD when identifying the specific disease. I’ll sometimes redundantly refer to SCA3 ataxia, just to be clear in the moment.

See here for more on terminology.

SCA3 is dominantly inherited via a parent’s defective gene, in which case that parent also had the disease if they lived long enough. It is a neurodegenerative disease that involves degeneration of the cerebellum and other parts of the brain, which causes gradual loss of control across the spectrum of brain function: physical, cognitive, and emotional. Cognitive and emotional issues are secondary and are largely ignored from pathology considerations, but since I’m experiencing them, I feel compelled to highlight them.

  • Physically, it degrades coordination (muscle control) in the extremities of the whole body, from the eyes to the toes. My biggest problems so far have been vision degradation, mild speaking impairment due to the excessive need to swallow, clumsiness, and walking impairment.
  • My own cognitive decline at this point is hard to separate from what I call mental exhaustion, which has a large physical component, but includes difficulty concentrating and learning new things, as well as memory issues.
  • All of my irrational fears (e.g., phobias and anxieties) are becoming amplified and harder to control, which is what I refer to as emotional issues.

Again, it’s about loss of control. Any ability that requires effort and/or coordination, even subconsciously, degrades over years of time. This includes abilities typically taken for granted, such as walking and swallowing, as well as abilities such as emotionally “holding it together” when at the dentist’s office.

See here for more on what I call this unholy trinity.

I’m starting this blog in July 2014, just prior to age 47, after being overtly symptomatic for over eleven years. Taking into account my genetic makeup, which I know from 1996 DNA testing at age 29, and my family history, I expect to last into my sixties after about a decade of being unable to care for myself.

Why this blog?

A hundred people with early-stage SCA3 will have a hundred different experiences. At endgame time, finally everyone with SCA3 is viewed more or less the same. The health care system and information out there in general is geared towards sloppily and roughly dealing with late-stage SCA3, not so much the one or two decades of struggle leading up to that. This blog is giving one person’s viewpoint on those early decades.

I have felt little connection to what I’ve read about the disease over the last 20 years. My diagnosis and DNA test results (i.e., CAG repeat count of 73) are unequivocal, yet I often feel like an impostor, because my experiences often don’t seem to match “what they are supposed to.”

Perhaps it’s like the fictional population consisting of an equal split of people who are 5 feet tall and 6 feet tall and nowhere in between. The average height of that population is 5½ feet tall, but not a single person is that height. I suspect the world of SCA3 is like that: data are given in terms of averages that don’t exist, or perhaps too generally, like saying all people are between one and ten feet tall.

Reading about people with similar experiences is satisfying. You could say that I’ve been inspired to write this blog by recently reading an article in The New Yorker, where I hung on every word and knew exactly what the author (Michael Kinsley) was writing about every step of the way, plus there was food for thought that made it even more interesting. The author does not have SCA; he has Parkinson’s disease. The article is “Have You Lost Your Mind?” from The New Yorker, 2014-04-28.

My attitude

I hope I never give the impression that I’m expecting different people to have identical feelings or experiences, especially when it comes to problem remedies. I give no credence whatsoever to people whose mantra is, “It worked for me, therefore it will work for you.” If somebody found something helpful, then it’s by all means worthwhile for others to hear about and consider trying.

Similarly, it’s not fair to say, “It didn’t work for me, therefore it won’t work for you.” Something that works for some won’t work for all. That’s the way all things function.

…within reason. I approach everything skeptically. For example, if someone claims that eating eggs cured their genetic disease, I know that is pure nonsense.

That said, I might sometimes overgeneralize. There are dozens of types of ataxia, and I have only one. In most cases, I am probably talking about my type of ataxia, and my own experience with it, unless it’s obvious that I’m trying to address a different type.

Date published vs. date of last update

In 2018, I added a last updated date to articles. This does not mean that I update all the information to be current; in fact, I generally don’t. I rarely change more than broken URLs, spelling, grammar, and wording for clarity, but I often do so, as needed. I often reread my own blog in an editor.

Comments

43 responses to “About Me”

  1. richard franklin Avatar
    richard franklin

    A real treat to read such an honest and useful description of ataxia and its effects on a fit person. I am being brave tomorow and trying out an electric bike to see if i can keep up with m y wife. Good luck.

    1. Jens Farley Avatar
      Jens Farley

      Coasting in a straight line was the hardest thing for me to do, and pedaling was necessary to actively keep myself balanced. Good luck to you as well.

  2. Brian Law Avatar
    Brian Law

    You might be interested in how I use you (your log). My gene profile to ataxia not established. This forum lays out current drug trials and ataxia gene targets. No sense more gene identification unless more effective drugs available. Once more through the breech dear friends!

    1. Jens-Ingo Farley Avatar
      Jens-Ingo Farley

      Word of warning: since I have SCA3, I sometimes only address that variation (without intending to). I was lucky enough to be tested in 1996, after the test patent was filed but before the patent was granted. Testing was dirt cheap during that time.

  3. Brian Law Avatar
    Brian Law

    To Richard Franklin- hope to hear how the bike worked out. Each stage in life is something new. My inherited ataxia is like that. It is snowing again in the mountains of Canada today so no biking but the dog sled calls. Keep in touch .Brian Law.

  4. Brian Law Avatar
    Brian Law

    Jens, Any comment on the use of medical marijuana for the relief of symptoms associated with our baring stages of ataxia. Personally I find stoicism and distraction keeps me “real” but on a sceptical level on not against it. Again, there are many sides to an argument and I would like to hear your thoughts. Brian Law

    1. Jens-Ingo Farley Avatar
      Jens-Ingo Farley

      I don’t think marijuana will improve cerebellar function or help with early stage ataxia, but if it helps relieve the later stage symptoms that are the result of years of cerebellar degeneration and the compounding health issues, I have no quarrel with it. If it offers relief without the side effects of pharmaceuticals (or harder, illicit, feel-good-until-they-ruin-your-life drugs), it’s already coming out ahead. I don’t doubt that it’s the “high” that helps, but if it helps, it helps.

      I have no personal experience with it, but I think that smoking it is considered the most effective method of administration. That’s a barrier for me. I take turmeric every day in capsule form for peripheral neuropathy, and it works wonders. If I had to smoke it, I simply wouldn’t have ever considered it.

      1. Jens-Ingo Farley Avatar
        Jens-Ingo Farley

        I’m from Santa Cruz, California, one of the pot capitals of the world, and yet I have never smoked it, and it turns out I was massively uninformed (though my previous response was amazingly still correct-ish). It only took about ten minutes to educate myself, via the web. Anybody who doesn’t instantly know what the major differences are between marijuana (pot) and hemp; hemp (seed) oil, full-spectrum CBD extract from hemp vs. full-spectrum CBD extract from marijuana, and THC; and so on needs to do this; I didn’t until yesterday.

  5. Brian Law Avatar
    Brian Law

    Jens-Sara Riggare-Parkinson’s since 13 yrs old. Doctoral student/health informatics at. Karolinska Institude-Stockholm, speaker at. Nuffield Trust health policy summit. Feb 26\27. Article on topic Guardian News Paper website today. Check it out. Brian Law

    1. Jens-Ingo Farley Avatar
      Jens-Ingo Farley

      Today? I think you mean three years ago:

      https://www.theguardian.com/healthcare-network/2015/feb/19/being-diagnosed-with-parkinsons-at-13-has-made-me-an-expert-in-selfcare

      I like the 1-in-8,765 idea for selfcare. It’s a nice mathematical idea I will remember. I’m currently at 0, because I don’t require/want/need/have-available prescription medication that I need prescriptions for, and I have long viewed my future desire for prescription medicine to be the only future reason to go from 0 to 1.

  6. Brian Law Avatar
    Brian Law

    Jens-just an aside on fatigue associated with sca. A blog comment on the role of neurotransmitters and fatigue in the guardian .com . Just a reference to neurons, hypocretin, and Orexin. Henry Nicholls-Marscolonist, Feb 25, 2018. Brian-guardian. March 4, 2018

  7. zeming Avatar
    zeming

    I am also a SCA3 patient. Recently I wrote a letter to professor McLoughlin, Hayley(U Michigan) , who is working on a very promising lead using ASO therapy in cooperation with IONIS Pharmaceuticals. She replies to me that it is very much in line with the recent approved ASO therapy to treat Huntington’s disease by IONIS. It is a very hopeful way to treat out disease.
    BTW, why don’t you update your blog now? It is very encouraged to fight with SCA3, for all of us.

    1. Jens-Ingo Farley Avatar
      Jens-Ingo Farley

      I have covered ASOs and Ionis on this blog, and I especially keep the Ionis section updated. In my ASO article, I’ve had a link to ASO research that Professor McLoughlin participated in, for over one year.

      1. Brian Law Avatar
        Brian Law

        Jens, vagus nerve stimulation, as featured in article in guardian news,psychology today extract, research study, Ohio State, todays date. For people in earlier stage ataxia there might be some usefull information. No magic pill approach.Will try to get researcher’s name.Brian

        1. Jens-Ingo Farley Avatar
          Jens-Ingo Farley

          Interesting:
          https://www.psychologytoday.com/us/blog/the-athletes-way/201805/vagus-nerve-stimulation-enhances-brain-plasticity

          Perhaps VNS paired with (future) stopping cerebellar degeneration could aid in some sort of recovery.

      2. Brian Law Avatar
        Brian Law

        Jens, vagus nerve stimulation, as featured in article in guardian news,psychology today extract, research study, Ohio State, todays date. For people in earlier stage ataxia there might be some usefull information. No magic pill approach.Will try to get researcher’s name.Brian, Eric C Meyers, Michael Kilgard Texas Biomedical Device Centre UT Dallas, Marcie Bockbrader Wexner Medical Center Ohio S U

  8. Brian Law Avatar
    Brian Law

    Jens, where are we on DNA repair and immune therapy re. Article Manchester Guardian, new drug and approach to prostate cancer, defective genes and treatment.Todays date. thanks Brian.

  9. Brian Law Avatar
    Brian Law

    Jens,further complications for ataxia with compromised vagus nerve. Gastroparesis(delayed gastric emptying,) and thus low/high blood sugar. See Canadian Society of Intestinal Reseach, badgut.org
    Hope this helps others with connecting seemingly unconnected health issues with ataxia.

  10. Brian Law Avatar
    Brian Law

    Jens, Article on gene therapy and blindness via The Guardian. I do not know the relationship or dynamics between ataxia and it’s consequential symptoms but who knows. The link is todays date in the Guardian, rpfightingblindness.org.uk. Hope music is still in your life, a wonderfull other sensorary experience. Brian

    1. Jens-Ingo Farley Avatar
      Jens-Ingo Farley

      I think you mean this article from 2016-04-28.
      https://www.theguardian.com/society/2016/apr/28/blindness-gene-therapy-treatment-oxford-university

      A lot has happened in two years. For example, the U.S. FDA approved in 2017 a treatment for a genetic eye disease (Luxturna).

      I have not spent much time understanding eye diseases. I think it’s safe to say that most gene-based therapeutics that have existed are for eye diseases. It seems intuitive to me that the eyes are more repairable than the brain.

  11. Brian Law Avatar
    Brian Law

    Jens, once again the methodology of ‘defining the problem or in this case the solution’. Role of the vagus nerve in SAC. Article from Berkeley with the science of SAC buried in musings. ‘Blissed Out’-The Guardian, todays date , news, Brian.

  12. Brian Law Avatar
    Brian Law

    Jens, article on MS, brain atrophy , and drug ibudilast might be relevant. Todays date,healthline .com

  13. Brian Law Avatar
    Brian Law

    Jens, article under ‘Drug may slow brain atrophy in people with progressive MS-Caroline Craven sept 8, 2018’ link is GirlwithMS.com found on twitter

  14. Brian Law Avatar
    Brian Law

    Jens, Is it misguided treatment wise to give more attention to advances in MS research than SCA? I do not know the relationship between ones genetic makeup and drugs used for other illnesses. Are there connections discovered that bear interest and point to new directions in research? I guess the same goes with Parkinson’s. Premises/Conclusions-Brian

    1. Jens-Ingo Farley Avatar
      Jens-Ingo Farley

      Do you mean for us with SCA, is it worthwhile to take medications developed for MS and Parkinson’s? I wouldn’t write that off completely, from the standpoint of symptomatic relief of some kind, but I don’t see myself going that route.

      Some with SCA have taken carbidopa/levodopa (for Parkinson’s) for years, some for decades. There are MS and ALS drugs, too. Sometimes studies have been done, usually on many other diseases, too, in an effort to formally repurpose the drugs.

      I have little to no positive expectations that any of those will help me. Genetically, no, they won’t. Symptomatically, I haven’t looked much into it. I did take citalopram for 387 days, because of positive test results on worms and mice with SCA3. Did nothing for me.

    2. Jens-Ingo Farley Avatar
      Jens-Ingo Farley

      Let me add something. I think it’s worthwhile to follow the technologies used for other genetic neurodegenerative diseases, especially other polyQ diseases such as Huntington’s disease. It’s also good to realize that actual gene-silencing drugs for other genetic diseases such as HD will have 0% effect on SCA1,2,3,6,7,17, and that HD is always given higher priority than SCA (justifiably so, as I’ve written about on this blog).

  15. Brian Law Avatar
    Brian Law

    Jens, This cause and effect ,cause and symptom relationship. Why cannot this determinant relationship be more valid when repurposing for symptomatic relief with MS , Parkinson’s etc drugs? Is there a dynamic that defeats generally repurposing drugs? Brian

    1. Jens-Ingo Farley Avatar
      Jens-Ingo Farley

      Symptom treatment is surface treatment, not affecting the underlying disease or its trajectory. Many supplements have a marked positive effect (on me), and I take them. Drugs often have side effects, and for me, the side effects are often either insurmountable or not outweighed by the benefits.

      Drug repurposing focuses only on results, not the “how” or “why.” The process puts blinders on just looks for short-term symptomatic improvements for reasons not cared about, involving substances deemed harmless by the FDA (let’s face it: FDA approval means that even a healthy person can take it without negative consequences beyond a set of acceptable side effects).

      I think repurposing drugs revolves around the magical 50% number. If greater than 50% of the participants experiences benefits, it can be touted as a success. In this era of Trump, now there’s pressure to reduce that number to “greater than 0%,” maybe not for FDA approval but at least to be considered successful. But who wants to take a drug when there’s such a slim chance of any success, and only a short-term chance of affecting symptoms but not the disease itself? Especially if we’re talking about a potentially hardcore drug with potentially nasty side effects, which is super-expensive.

      Another reason repurposing is kind of pre-doomed is the starting point: there are no resoundingly positive treatments for (e.g.) ALS, so one cannot have high expectations if the same drug is taken for SCA.

  16. Brian Law Avatar
    Brian Law

    Jens, Thanks for your response on the on the “repurpose” methodology of the FDA. Rebranding versus the need for more “pure” research would be a good start. I personally don’t use hope as a starting point in my response to my SCA. As one author said in his book When the Balls Drop-How I Learned to Get Real and Embrace Life’s Second Half. Brian

  17. Brian Law Avatar
    Brian Law

    Jens, Articale from web site friedreichsataxianews.com on the protein frataxin. I think it is a gene therapy protocol. Again its relationship to SCA is “who knows”. Brian

    1. Jens-Ingo Farley Avatar
      Jens-Ingo Farley

      For a few comparisons between FA and polyglutamine SCA, you can see http://ataxia.hemiola.com/2017/11/10/therapeutics-development/#b2.

  18. Dora Avatar
    Dora

    Hi Jens,

    I found your blog when my fiancé’s father was diagnosed as SCA 3 at the beginning of this year in China. And my fiancé has 50% to have SCA 3.

    We still decide to have our wedding next January.

    I am just writing to thank you for bringing us all these true and rational blogs. It is very encouraging and helps us a lot to prepare for what might coming. Good luck and stay hopeful!

    1. Jens-Ingo Farley Avatar
      Jens-Ingo Farley

      Thank you. I don’t mean to sound bad-tempered, but it’s not my intention to sound encouraging or hopeful. I’m expressing a skeptical view, sometimes purely informational, which I think is honest and reality-based, but I readily admit it’s to counteract the hype out there that I find wildly dishonest and not reality-based.

  19. Brian Law Avatar
    Brian Law

    Jens,”on the nature of the disorder”. There are many sides to any “problem”. Say ataxia , perceived as a biological problem. Maybe so. Just to expand the debate I look at reframing some of the symptoms of ataxia just as a challenge. Chinese neurasthenic comes to mind. Best descibed at en.m.wikipedia.org. Just playing around. Brian

    1. Jens-Ingo Farley Avatar
      Jens-Ingo Farley

      I have SCA3. There aren’t many sides to my problem—just one. I know what is happening and why; there is no debate. The industry of false hope depends on people denying the biological reality of the genetics of the situation. Hence, this blog.

  20. Madeline Modrak Avatar
    Madeline Modrak

    Hi Jens! Just found your blog. I have SCA6. And you’re right! The cognitive and emotional components are ignored. Cognitively I have naming issues when I try to speak. Emotionally I have inappropriate affect at times and I’m impulsive hence my social skills are poor. Keep up the good work!

  21. Brian Law Avatar
    Brian Law

    Jens, pod cast on guardian science pod casts,topic is Huntington’s disease,cga gene repeats,proteins,gene silencing,historical evolution of,drug trials. Brian

  22. Brian Law Avatar
    Brian Law

    Jens do you have any feedback on dopamine and SCA. Specifically Baclofen and SCA 16. I am SCA ,genetically tested but no number. Have been tested for standard six or seven . Father had classic sca symptoms so I am labelled sca inherited, genetic. Thanks Brian

    1. Jens-Ingo Farley Avatar
      Jens-Ingo Farley

      The info about your SCA background is interesting.

      My impression is that baclofen and gabapentin are the two most commonly used drugs for SCA symptoms. Some people use baclofen so regularly they have an intrathecal pump installed (i.e., inside the body).

      I would recommend going here:
      https://www.ataxia.org.uk/news/symptomatic-treatments
      Open the first section on spasticity, and then Ctrl+F on baclofen.

      There is no one-size-fits-all treatment for anything, and so far, I’ve been able to avoid pharmaceuticals, so I have no personal experience.

  23. Joe Peck Avatar
    Joe Peck

    Great blog. I love your treatment synopsis especially your thoughts on ASO. I agree once damage has begun the chances of slowing or stopping progression become slimmer, but I just thought I would share my own alternative therapy routine. I would note that several individuals around the world with SCA3 have reported trying my routine with some success. They, however, all have lower CAG counts than you. I have SCA1 with a CAG count of 42. The threshold for mutation is lower in SCA1 at 39 counts. Anyways, thanks again for a great resource. Joe in NY

    https://healthunlocked.com/ataxia-uk/posts/137505041/my-sca1-progression-has-stopped.-my-alternative-therapy-for-sca1

    https://healthunlocked.com/user/sunvox

  24. Huseyin Sevay Avatar
    Huseyin Sevay

    Dear Jens,

    Whenever I think I write something of value to me (and when people respond or get into a discussion with me), I have the need to archive that conversation on Facebook. And the go-to tool is your ExpandAll, no doubt!

    I wanted to thank you for all your work on ExpandAll especially.

    I wish you the best with your health condition.

Leave a Reply

Your email address will not be published. Required fields are marked *

This site uses Akismet to reduce spam. Learn how your comment data is processed.