MD and Me

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.

My Disease

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?

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14 thoughts on “MD and Me

  1. Donna says:

    Well I kinda figured it was MD or similar. Thanks for clearing that up. A few years ago I worked for two nutraceutical companies and learning an awful lot about the immune system. Amazingly enough your immune system control pretty much everything in your body. Anyhow to make a long story longer…one of my mentors’ husband had MS not MD and he was using canes and was sometimes in a wheelchair as well. He started using some of the products to build his immune system … particularly those that built his NK (natural killer) cells and immune builders such as Arabinogalactan and AIE10. Anyhow as just a short time, he was able to kick the chair and canes and was even back to jogging. The change in his condition was slightly a miracle. I no longer work for those two companies but I still do use their products. I couldn’t tell you the last time I was sick. I know that MS and MD are different but one can never know what can help. Dr. Jesse Stoff has a saying “nothing can thrive in a fully functioning immune system” and over the last 5 years, I have become a believer as I’ve seen the results with my own eyes in many cases.

    Anyhow I just wanted to share and to give you something to think about. However, with a word of caution…not all products are created equal and you need to research good quality companies. The ones I use are Pharmanex and BodyWise. Both are pharmaceutical grade products and have extremely high standards.

    Adios…

    • So what the FSH does is stop the creation of a protein that helps to tie muscle tissue together. So I’m not sure that the immune drugs would have a benefit.

      That being said, the is not a lot of research so it isn’t possible to discount anything.

      Personally I don’t have any interest in trying things out. I’d be happy with a cure, however unlikely, but I don’t want to experiment on myself.

      The muscle loss is certainly a hindrance, but it is a known known. Drugs would just introduce an unknown. Plus I think I also inherited a dislike of medications from my father. 🙂

  2. David Silvestri says:

    Having been around for most of the above (missed most of university), I will say that it has always seemed to be in spurts to me… but maybe that’s just the view of it as, like you said, you just stop doing that which becomes hard.

    Why I (was going to say we… but that’s not fair) don’t talk about your MD…
    – you don’t ever talk about it, unless you have something new to help you get around (brace, walker)
    – you only seem to talk about bad things (not that there are a bunch of positives mind you)
    – I think about the time you fell getting out of your car outside of The Keg, and you needed to wait a long time to get someone to help you.
    – You seem uncomfortable when I bring it up
    – You continue to be as self sufficient as possible and somehow bringing it up feels like it ignores that fact (not sure about this one).
    – I’m out of breath after trying to help you out of a chair and I’m having an asthma attack 😉

    None of those are good reasons not to talk about it… if only you were a half decent speaker… you could go on a speaking tour and talk to people about MD or something.

    Hmmmmm….

    • So Dave’s comment brings up a bunch of stuff I didn’t talk about (and the other comments too).

      I said I don’t mind talking about it and that is true, but I am probably not overly approachable. I am unlikely to bring it up myself unless I have a story to tell or I need assistance with something. And the stories are usually things I find amusing like falling (though that can be scary too).

      I may seem uncomfortable when it is brought up because of a few reasons – I might not know the answer (literally – this is almost all I know about the disease), it might be discussing feelings, or it the root problem might be something else. I don’t know I’m not too in tune with my own emotions or self-analytical.

      And it may sound disingenuous, but I don’t think about it much. Or maybe I think about it a lot, but I don’t dwell on it. Does that make sense? I concentrate on not falling when I move around, I worry about access and parking when I need to go someplace new, I worry about falling when I’m someplace slippery or windy or in a crowd. But I don’t think about those things when they are not happening or immanent. I worry bunches about asking people for help or asking strangers for help. I worry about asking to much of friends and co-workers. That stuff I think about sometimes. I get scared when I fall, but normally that passes very quickly once I determine that I’m not hurt and I’ll be able to scootch to a phone or get help somehow.

      The rest of the time I think about work or comics or morality or technology or books. (Or whatever else I am filling this blog with – faith, family, friends.) I certainly don’t do much “what would happen if?” or “wouldn’t it be nice if?”

      Not that that attitude it great. 🙂 I don’t spend anytime thinking about how to make my life easier or what will happen if things get worse and how I’ll deal with that. Or even, how do I prevent something from happening again (other than being more cautious). Certainly an attitude that annoys my Mom.

      Talking publicly about MD might be neat, but it sounds tricky for a number of reasons. First, I don’t know much. Second, I don’t have a message – I’d want to have a message. My own successes or failures seem to me to be independent of the FSH. Third, talking about it would seem to make it take on a more central role in my life. Does that make sense? It is not a thing I ignore or deny, but being a spokesperson would make my life be about it. Or maybe it wouldn’t – I dunno never done it.

      I lost my “Do not give in to fear speech” in the layoff. That was a shame. That is really all I had for inspiration speeches on the subject.

      I also do like to be as self-sufficient as possible. Also without denying that there are certain things I can’t do. But I do like to do whatever i can.

      And I don’t remember falling outside the Keg. Weird. I remember a time falling outside of the comic store and needing to call Mom. That was the worst time I can remember other then the one bathroom fall.

  3. Troy says:

    I liked that Todd.

    I think it should be note that exercise may not help those particular muscles, but it would help keep that weight down which would help with the movement aspect as people wouldn’t have to use broken muscles to push extra weight as they tried to walk and stand up.

  4. Theresa says:

    Todd, I am really glad to hear you are doing well, and that you still have such a positive attitude.

    I was surprised that people with strollers were listed in the people who are not understanding. Intuitively (to me), it seems like we *should* be more understanding because we also have to deal with a bigh bulky and inconvenient cargo. At least, I try to be. I will have to make extra effort to redeem us when walking with my son.

    Best wishes,

    Theresa

    • Ah mostly I was kidding. But it has come up.

      Parents with a stroller and often additional children are preoccupied with that. They get in the habit of just assuming folks will get put of their way. Since I’m not nimble enough for that I get bumped into occasionally.

      It would be wrong to say they are unkind. They just aren’t focused.

  5. Gary George says:

    Weird that others don’t ask? It’s just that we don’t know how or if it’s acceptable. This is not much of a barrier to an extrovert but is rather more of one to shy introverts — of which your chosen field is well supplied. [I admit to being an extreme case, but I’ll claim there’s a general tendency in the profession.]

    And of course you don’t bring it up. Quite reasonable: there are few people harder to converse with than an oldster (usually) whose only topic is the state of his [ill-]health — but your not bringing it up means not giving us an opening. Then there’s your liking for gentle irony and our fear of being on the receiving end …

    G.

    P.S. The first “Ad by Google” I saw at the end of your essay was for Gravol. What was it trying to tell me?

    • 🙂 mostly I like the approach of children. They are very direct and curious. It is nice.
      Hmm my iPhone isn’t showing letters anymore. Weird. I’ll try again

      • But you are right. I probably don’t make it easy to ask. I will rarely bring it up myself. But mostly just because I don’t talk about myself unless I have a story to tell.

        Hmm. Writing is invisible again.

        Anyway I’ll go into more detail in replying to Dave’s note. But it is too long to do on the iPhone. Espescially with invisible text.

    • I should also add here that I agree with Gary. I am surprised that folks don’t ask more often because I can sometimes see the question in their eyes. But I’m also not surprised. I probably wouldn’t ask either.

  6. Dano says:

    I for one have never had trouble bringing it up. Though, to a smaller degree, I experience what you do inthat it is just a part of things now, I don’t really need to talk about it.

    On other hand, it has given me a physcological obsession. I am obsessed with inventing and designing contraptions to aide those with limited mobility. The (semi)failed chair lift was but one of hundreds of things I have floating around in my noodle. From the wall mount track lift, to the full exo-skeleton, I have weird ideas churning.

    You want to know my biggest concern? I worry becasue the MD negatively affects your diet. You just can’t cook a healthy meal. You eat too much take out and other crap. A bad diet leads to all sorts of other problems that you just don’t need. And these unrelated things play off each other. Your limited mobility means you can’t cook much, thus you eat poorly, thus you gain weight, further affecting your mobility . . .

    • I should point out, in my own non-defense, that the MD is less responsible for that than I am. I didn’t cook long, long before it became difficult to move around. And there are options, even now, there are places that prepare meals and all that is left is the assembly and heating.

      Not that the MD makes it easier, but it isn’t the primary cause of a bad diet here.

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