So it may have escaped you notice, but I have a form of muscular dystrophy called facioscapulohumeral MD (FSH).
FSH – what I know
So this should be short. I know very little. There is actually very little to know.
It is a progressive genetic neuromuscular disorder that targets various voluntary muscles. Basically it makes them weaker. When I tell kids what happens I say that it makes my muscles like an old persons while I’m still young. (Less helpful now that I’m an old person myself.)
As a genetic disorder it is on a dominant gene so it isn’t contagious except to offspring. 🙂 FSH is just one disease under the muscular dystrophy (MD) banner. The most known disease is Duchenne’s which impact children and some others like myotonic which weaken the heart. FSH does neither, but is probably the most common of the MDs. Still it targets only 1 in about 20,000 people and since it runs in families running into it randomly in the populace is pretty unlikely. In all there are about 9 or 10 MDs and many more similar neuromuscular disorders.
FSH is so named either because it makes it difficult to pronounce and spell or because those are the earliest muscles targeted by the disease. So first some muscles in the face, then the shoulders and then the upper arms. After that it moves to the extremities of the limbs (ankles and wrists) and then up the limbs back towards the core. There is no ‘typical’ progression for the disease. Some folks don’t progress very far down the chain and it is only an inconvenience. Family history isn’t an indicator on how it will progress in relatives. It is typical that it general becomes noticeable in the teenage years.
They have identified the genetic anomaly that causes it, but they only have SWAGs as to why. There is no know treatment or cure and relatively little research being done (compared to the big, common, more fatal diseases). Most effort is made on helping to live with the disease – occupational therapy, orthotics, etc.
Exercise does not seem to conclusively slow or speed up the disease. So the common recommendation is that moderate exercise is good to maintain health and perhaps prolong the range of motion.
Well if any progression could be called typical it is mine. Right? Earliest symptom was an inability to smile fully (don’t show my teeth) or whistle. Then as a teen my shoulders started winging and it became hard to do pushups. In college I started to fall because of weak ankles. After university, I needed first an ankle brace, then a cane, and then two ankles braces and a walker to aid walking. I had difficulty standing from prone, then climbing stairs and lately getting out of chairs.
It is non-typical in the following three ways. There is no bilateral symmetry. Some muscles on the left are stronger than on the right and vice versa. That is weird. My wrists are still fairly strong – so it skipped them. And third there is a difference in strength between my flexors and extensors. For instance my ankles are strong enough that I can stand on tip-toe lifting my entire weight. But I can’t lift the balls of my feet off the ground.
It causes no other medical impacts so far. In general I’m pretty healthy. My biggest risk from the FSH is falling. FSH has never been responsible for my missing work – although I have had kidney stones in the last couple years that are completely unrelated.
In theory the disease progresses in spurts, but I haven’t noticed that. Instead what happens is that it gradually becomes difficult to do something. So eventually I stop doing that. Once I stop doing something it quickly changes to being unable to do that at all.
Impacts it does have on me
Well I guess I am disabled enough these days to rate a parking placard and a taxable deduction for disability. Those are pretty nifty side effects. And both the walker and ankle braces are pretty neat gear.
I worry about the following things (but not obsessively):
- falling on ice and getting very cold before I can call for help
- falling in the washroom/shower and being unable to get to the phone
- falling and breaking something (see a trend?)
- having my job options limited due to a general difficulty/inability to travel
- and, most embarrassingly, being unable to make it home to my toilet (which is raised) – but which has never happened.
I don’t mind offers to help. In fact, they are appreciated. But I do like to do what I can for myself. So I might ask to do it myself anyway. I also don’t mind talking about FSH. Very few people ever seem to ask which I always think it weird. When walking I am pretty concerned with my balance so I often flinch when someone comes to close. I don’t mind human contact at all, I’m just worried about falling. I think that gets misread sometimes.
In general my experience is that people are very understanding. The exceptions being the folks that steal the good parking spots and people with strollers.
My perspective is that there are many worse things. I’m able to do all the stuff I love – I was never a jock anyway. It is likely not a disease which will ever kill me. So no pity or feeling sorry or worry is needed. I am very thankful though for all the folks who have helped me either when I asked or when they offered. My friends and co-workers especially have always been extra nifty.
I think that about covers it. Any questions?