What IS Congenital Myasthenic Syndrome, Anyway?

I thought this might be a good time to explain what CMS is, so you have an idea of why this is a big challenge for me.

CMS is a form of muscular dystrophy, and while I don't have a severe form, it can be life-threatening for some people. It is also genetic, so there is some form of it passed down through generations. My parents don't have the symptoms, but they do both have the defective gene, causing it to manifest itself in me and my brother, Corey.

The symptoms of CMS manifest themselves in the form of muscle weakness. This includes all muscles, including legs, arms, hands, feet, eyes, mouth, throat, etc., but the most disruptive (at least for me) is the leg weakness and the mouth weakness. That might sound weird, the mouth part, but have you ever had to smile so much your face hurt? Well, that's what happens to me, only my face gets to the point where it's almost paralyzed, and that does NOT make for pretty pictures. Believe me.

CMS is caused by a genetic flaw at the neuromuscular junction, where the nerves and muscle cells communicate. So, basically, my muscles just don't get the message that they need to continue working. My symptoms are helped by periods of rest, and to tell you the truth, I actually don't know why the resting helps. CMS is a very rare disorder, affecting only 1 in one million people. Not a lot is known about it, as you will find if you ever decide to Google it, and by the fact that even though I've lived with it my whole life, I know very little about it.

Now that you know what it is, I feel I must say something about what it's like living with CMS. As an adult, it really isn't a big inconvenience for me. I have gotten used to it, and so have my friends and family, so I have been able to arrange my life around it. But when I was younger, it was really difficult. I walk really strangely when I get tired, so my legs looked funny, and the kids didn't understand what was wrong with me when I couldn't keep up. So, I got teased a lot for not being able to run. Plus, gym teachers never really understood it, so I just ended up looking lazy because I'd have to sit out a lot. That actually continued through college, so I found myself feeling sorry for myself at times.

That changed completely when I was an intern for the Muscular Dystrophy Association the summer after I graduated from Linfield. I got the chance to stay the night at the MDA Summer Camp, and WOW. Spending a day with kids who have such severe forms of MD was eye-opening and I really realized how fortunate I was. Many of the kids were wheelchair bound, and will never lead independent lives. Many of them will die before they are 20 years old. So, from that day on, I have never felt sorry for myself. It really put my struggles into perspective and made me realize that I am blessed to be able to walk, talk, speak and live on my own. I am an independent adult, and I am grateful for it all.

So, that's a little about me. I really think we all have some physical challenge we have to deal with, whether it's asthma, a bad knee, tendonitis, or something like what I have. CMS is just the challenge I have, and I have accepted it. But that doesn't mean I can't try to overcome it!