Stranger in a Strange Land

The world would be a strange place if everyone in it grokked the ataxia family of diseases. What does the average person have to gain by educating themselves on one rare disease, if it doesn’t affect them, and there are thousands of rare diseases? Nothing.

I don’t know if this is a real quote, but someone might have once said of ALS something like, “I hope you don’t know what ALS is.” That matches my sensibilities.

Would a cure come out of realistic levels of increased awareness? I have no reason to think so. Though I think this is just common sense, here’s another example of this: “everyone” has heard of muscular dystrophy for 45 years, yet there is no cure.

I think the best we should hope for is name recognition, i.e., awareness of the magnitude similar to what Jerry Lewis did for muscular dystrophy. But MD is three or four times as prevalent as SCA; do bystanders know any details of the disease, either biological or the practical aspects of how it affects one’s life over time? No. Can bystanders visually identify people with the disease, in various stages? No. Has the disease been cured? No. But “everyone” knows the general name of the disease, they know it’s terrible, it puts kids in wheelchairs, and maybe they know there is no cure. It’s been this way for 45 years. Jerry Lewis helped raise almost USD 2.5 billion along the way.

Side note: As I was writing this, the first FDA-approved treatment for MD made an appearance. It’s controversial, expensive, and by no means a slam dunk:

https://www.nytimes.com/2016/09/20/business/fda-approves-muscular-dystrophy-drug-that-patients-lobbied-for.html

Muscular dystrophy is a family of dozens of variations, similar to how many varieties of ataxia there are. One goal for the general public I think should be to popularize the name ataxia and for us to not push other names and variants like Machado-Joseph disease.

It’s also worth noting that the Ice Bucket Challenge helped increase ALS awareness in 2014. Certainly there’s no harm in more visibility, but I don’t see the assumed, unquestioned benefit that so many do.

Come in Houston

There’s a bit of a problem with the name ataxia. Because the general disease was named after one of its symptoms, its name is perpetually confusing, even among people who have it. The lone word ataxia is almost always used to refer to the diseases for which we want a treatment, even though the lone word ataxia more rightly describes a symptom.

There will be further ambiguity if certain forms of the disease become treatable and not others. But for now, I prefer sticking with the word ataxia because it’s short and sounds suitably like a disease.

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