For those of us with myotonia congenita, it affects our lives in a number of ways that someone who had just read a textbook definition of the disease wouldn’t realize. I’ve tried to list a number of smaller ways that the disease impacts our lives. These are things that people who have lived with the disease will generally be able to relate to.
- Hiding Symptoms
Often people with myotonia congenita will consciously or unconsciously try to mask their symptoms from others. When other people notice a person’s symptoms, it’s usually not obvious that they are observing someone affected by a muscle disease. Sometimes the observer will think the person is just acting strange, playing a joke, or is drunk or high. If I were to observe someone in a wheelchair, I immediately have a basic idea of what’s going on – that person is unable to walk due to some kind of medical condition. They probably cannot use stairs and will use the elevator instead. Myotonia congenita is different because when people see someone displaying symptoms, it’s not immediately obvious that it’s the result of a medical condition. Even if someone asks what’s happening, it can be difficult to explain the problem. Many explanations simply prompt more questions or lead to a bit of awkwardness (“Oh, it’s just this disease I have” sounds as though it could be something life-threatening because of the connotations of the word “disease”, “Yeah I’m alright, I just have some condition with my leg” leads to things like “oh, I hope you get better soon” because the person will assume it’s a temporary injury, etc.). So, it can be difficult for a person to balance not giving enough information (and getting follow-up questions) versus sharing too much information (possibly with someone they may not be comfortable sharing that much with). Either way questions can be embarrassing. I usually answer questions with a “Yeah…I’m alright” and just hope there are no followup questions. When standing from a sitting position, people with myotonia congenita will be frozen and have to stand still for a few seconds. It can feel awkward and as if many eyes are upon you, so people will sometimes act as though they’re adjusting their shirt before they start walking.
- Shaking Hands
While job hunting, common advice is to give a strong firm handshake. But, if people with myotonia congenita do that, our hands will stiffen and we won’t be able to release our hand easily from the handshake. And when we do manage to release our hands, often it’s not easy for our hand to return to its natural state – instead it will be trapped in a claw-like state. This can looks strange to the other person, so to avoid attention being drawn to it we’ll often try to hide our hand behind our back, in our pockets or pretend to adjust our shirt. In the end, we either have to give a weak handshake or we have to try and hide our hands after the handshake.
- Shoulder Checks when Driving
When performing a shoulder check to check the blind spot while driving, sometimes my neck will get stiff and it won’t be a smooth transition to moving my head to face forward again.
When someone with myotonia congenita sneezes, their eyes will forcefully close and reopening them will happen slowly over the course of several seconds. This can be scary if it happens while driving.
- Sports and Gym Class
Many people with myotonia congenita are unable to play sports because of how frequently it involves moving quickly from a stationary position. For example, in baseball, a person needs to stand still at home plate and then after hitting the ball, immediately run to first base. Running fast after standing still is very difficult. While standing in the outfield, a person may be standing still for a long period of time and then need to react quickly to run to catch a ball. Again, this is difficult. In particular, gym class in school is often an awful experience for people with myotonia congenita (between gym teachers who don’t understand the disease and being teased and laughed at by other students for being unable to participate in the activities).
When most people are walking and they trip, they catch themselves and move on. When someone with myotonia congenita trips, their reflexes trigger their muscles which then immediately stiffen and the person may or may not catch themselves. Sometimes their muscles stiffen and the person will fall to the ground. Nearly everyone with myotonia congenita has experienced the embarrassment of falling in some public place.
- Difficulty Speaking
Symptoms can get worse during periods of stress and anxiety. So, people will sometimes find that they will have difficulty speaking and will slur their words. This can happen while giving a presentation or at a job interview or when making a speech.
- Difficulty Swallowing
The disease affects muscles throughout a person’s body including a person’s throat. So, when someone swallows a drink or food, their throat may tense and tighten making it difficult to swallow. I experience this when drinking water after some exercise.
- Enlarged Muscles
Folks with myotonia congenita will usually experience hypertrophy which is increase in muscle size. However, the increased muscle size doesn’t come along with the typical increased strength. In fact, often people will experience muscle weakness – increasing the difference between how strong they appear and how strong they actually are. Having larger-than-usual muscles without the expected strength to go along with them sometimes means that other people will question whether you are using steroids. Or they will ask about your workout routine and question if you are lying when you say that you don’t work out. Or, it will otherwise draw attention to a condition that many people try to hide.
- Standing in Line
When standing in line (at a store to checkout, at a movie theatre to buy tickets, etc.), if the line is moving slowly, a person may feel their muscles slowly “freezing up” and it can be difficult to move once the line starts moving again. There can also be a feeling that once the person starts moving, they will be off balance and may fall over. It’s a terrifying feeling that you may fall over in front of lots of people. Or a person may feel themselves start getting “off balance” as the line continues to stand still. When I’m in a line that isn’t moving, sometimes I find I need to put my hand on my wife’s shoulder to get my balance. Or I try to step back and forth to keep my muscles from stiffening. At one very embarrassing work event, I was new at my workplace and someone was talking to me for a long time. I began to feel my muscles stiffen and it was all I could focus on as the conversation progressed. I was terrified that I would fall when I started moving and I asked a co-worker if I could put my hand on their shoulder for balance.
School is often a negative experience for a few reasons: a) the popularity of sports and how a person tends to stand out if they don’t place sports (further drawing attention to their condition) and b) constantly fearing the possibility that you may be called on to stand up in front of the class or at a school assembly with little notice. If there was some notice that you were going to have to stand up, usually you could artificially tense and relax your muscles so that it would be easier because of the warm up effect. But, again, this draws attention and you may look odd doing it. This fear exists in other parts of our lives. I remember being in cub scouts when I was young and there would be days where our leaders had us participate in relay races where we’d be sitting down and then have to stand up and run quickly. This was even after the leaders were aware of my condition. It’s something that people with myotonia congenita are usually on constant alert about. Sitting on the floor with nothing to grab onto as you stand up is another terrifying experience for people with myotonia congenita.
- Riding the Bus
Usually waiting for the bus involves staying still for a period of time. Then, when the bus arrives, stepping up for 2 or 3 steps is enough to trigger stiffness and causes people to freeze for a few seconds. It’s often enough that people waiting to board the bus (and sometimes the bus driver too) will start to complain and wonder why you’re standing still. Sometimes people will stand a little distance away from the bus, so when it arrives, they can walk towards where it stops in order to “warm up” their muscles and make it easier to board the bus.
Often doctors will only have a limited familiarity with the disease, if they’ve heard of it at all. My family doctor eventually referred my to a specialist for diagnosis, but his first reaction when I displayed symptoms (stiffness) at age 6 was to tell my parents that they should just “tell me not to do it” and that I would grow out of it. Some doctors don’t believe their is a pain component to the disease, despite most people reporting muscle pain. Other doctors believe that their is a strength component and that the increased muscle mass comes along with increased strength which isn’t the case. Luckily there are also many knowledgeable doctors out there and finding a good doctor can be a sense of relief for someone with the disease.
- Being asked to relax your muscles and being unable to
I visit a massage therapist semi-regularly to help with the muscle pain. For a while, I would visit different massage therapists. Often I would be told to relax my muscles and I’d have to explain that I was doing the best I could, but it really wasn’t possible. Even after explaining, some people seemed to struggle to understand it. When giving blood, usually you have to make a tight fist. Afterwards, the nurse will say you can release it now, and it will be awkward to explain that you’re trying and it will just take a few seconds.
- Climbing Stairs
Climbing stairs is usually a slow experience – people will stiffen after a few steps and climbing the remainder of the stairs will happen slowly. One thing that some people with myotonia congenita do, is use the handrail and sort of grab onto the rail and pull themselves forward while they climb the stairs. It means that the leg muscles aren’t doing as much work and therefore not as prone to stiffening.
Illnesses can affect us differently with increased muscle pain and soreness. When vomiting, we usually vomit with much more force than other people and our muscles tense and stiffen afterwards, making it an especially unpleasant experience. Stomach muscles may hurt afterwards, too.
On a popular myotonia congenita forum, several people mentioned that they had experienced some form of depression and/or anxiety. I suspect that the underlying cause has a lot to do with the above list.