My name is Jens-Ingo Farley. I was born (in 1967) and live in California, U.S.A. I have 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 700 and 3,400 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.
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. Sometimes I’ll 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 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 very 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.
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.