WTF Diagnoses: Essential Myoclonus
Jul. 29th, 2019 01:00 am![[personal profile]](https://www.dreamwidth.org/img/silk/identity/user.png){kind=small}
justlyssaSo if I'm chronicling my experiences with disability and chronic illness, it would make sense to start out talking about my diagnoses, right? In my experience, receiving diagnoses has not been a straightforward process, and even receiving a diagnosis hasn't translated to actually knowing what's wrong with my body, or being able to do anything about it.
Case in point, my first diagnosis: "Essential Myoclonus." As my doctors have told me repeatedly, this actually isn't a diagnosis. "Essential Myoclonus" is a symptom, not a diagnosis. What's it a symptom of? Five years later, that's still a mystery.
On top of the fact that it's also not a diagnosis, "Essential Myoclonus" isn't the most useful term to have on your medical chart. You'll see why in a minute. But first, what is myoclonus? According to the National Organization of Rare Diseases (NORD):
That underlined bit has been the problem I've experienced when doctors see "essential myoclonus" on my chart—they're picturing something small, something minor, an annoyance but not life-inhibiting. The first time I had a myoclonic episode in my endocrinologist's office, he was like, "And what is this?" (Direct quote. It was kind of hilarious in retrospect.) When I told him that this was the myoclonus, he said that this was much more severe than what he was expecting when he saw it as an ongoing condition on my chart.
Yeah. That. That's how my myoclonus is.
Whether these myoclonic episodes count as seizures has varied based on which doctor I'm talking to. Some consider them a type of non-epileptic seizure, particularly because myoclonic seizures do sometimes occur in people with epilepsy. Others don't consider them to be seizures by virtue of the fact that they are non-epileptic. I've found that colloquially, ordinary people seem to understand them better when explained as a form of seizure than when I try to refer to them as spasms, so I usually just go along with that. So if you see me mentioning a seizure on social media or in another blog post, this is what I'm talking about.
What do myoclonic episodes entail for me?
• If it's a minor episode, it may just appear as a twitch or a tic. My most common "minor episode" symptom is that my head will jerk to one side repeatedly. Sometimes in minor episodes my arm will jerk as well, or it will switch from my head jerking to my arm jerking.
• In the case of major episodes, I have intense, uncontrollable jerking and spasming all over my body. The jerks will tend to localize in one area for a period and then move to different parts of my body throughout the episode. Common localizations are in my legs, which will kick and thrash; my torso, which will basically have me doing involuntary crunches; and my face, which makes my eyes squeeze shut and my mouth either clench closed or open as wide as it will go. (The face localization looks really gross and scares the heck out of anyone who sees it, which could be seen as a plus or a minus, depending on how you look at it...) I will need to lie down in these cases and usually need someone to watch me to make sure I don't roll into a position where I might smother myself.
Did I mention that I'm 100% conscious and alert during all this? I'm awake, but depending on what's going on, I may not be able to respond. If it's localized in my face, I usually can't move my mouth because the muscles are spasming or stuck in a taut position.
As you can imagine, this can be really scary to see. I have had people call the paramedics for me, but they really can't do anything. I still remember lying on the floor of a clinic in 2014 while a bunch of paramedics hovered over me like, "Well, shit. I have never seen anything like this before." Always fun! So if you happen to see me having an episode, don't call 9-1-1; it won't help. Fortunately, at this point I've been having these episodes for so long that my family and my IRL best friend know how to handle it, and the odds of me being out without one of them nearby are very slim these days, so there's no need to worry.
Myoclonus can't be prevented, but episodes can usually be controlled with anti-convulsion medication once they've started. Untreated, episodes can last anywhere from a few minutes to several hours for the major ones. If an episode is severe enough, the anti-convulsion medication may not work, but usually that's not an issue.
"Essential myoclonus" seems to be pretty rare, though I had a hard time finding good data about it. NORD indicates that myoclonus in general affects 3-8 people out of every 100,000, if I'm understanding their statistics correctly. But this seems to include all forms of myoclonus, from epileptic to sleep (where you jerk when you're starting to fall asleep... I do that, too, actually). So I have no clue how many people have myoclonus like mine.
Regardless, I'm hoping that sharing my story might help anyone else out there who may experience symptoms like this and not know what's going on. (I mean, not like I know, either. But having someone out there who's going through the same thing as you might at least make you feel better!) If you or someone you know has been non-diagnosed with essential myoclonus, please feel free to leave a comment!
Case in point, my first diagnosis: "Essential Myoclonus." As my doctors have told me repeatedly, this actually isn't a diagnosis. "Essential Myoclonus" is a symptom, not a diagnosis. What's it a symptom of? Five years later, that's still a mystery.
On top of the fact that it's also not a diagnosis, "Essential Myoclonus" isn't the most useful term to have on your medical chart. You'll see why in a minute. But first, what is myoclonus? According to the National Organization of Rare Diseases (NORD):
Myoclonus is the term used to describe the sudden, involuntary jerking of a muscle or group of muscles caused by muscle contractions. The twitching or jerking of muscles cannot be controlled by the person experiencing it. Myoclonic jerks may occur infrequently or many times a minute. They sometimes occur in response to an external event or when a person attempts to make a movement. By itself, myoclonus may be seen as a symptom rather than a disease. To some degree, it may occur occasionally to otherwise healthy people. (For instance, hiccups may be considered a type of myoclonus.)
That underlined bit has been the problem I've experienced when doctors see "essential myoclonus" on my chart—they're picturing something small, something minor, an annoyance but not life-inhibiting. The first time I had a myoclonic episode in my endocrinologist's office, he was like, "And what is this?" (Direct quote. It was kind of hilarious in retrospect.) When I told him that this was the myoclonus, he said that this was much more severe than what he was expecting when he saw it as an ongoing condition on my chart.
In severe cases, it can interfere with movement control and balance, and limit various everyday activities such as eating or talking.
Yeah. That. That's how my myoclonus is.
Whether these myoclonic episodes count as seizures has varied based on which doctor I'm talking to. Some consider them a type of non-epileptic seizure, particularly because myoclonic seizures do sometimes occur in people with epilepsy. Others don't consider them to be seizures by virtue of the fact that they are non-epileptic. I've found that colloquially, ordinary people seem to understand them better when explained as a form of seizure than when I try to refer to them as spasms, so I usually just go along with that. So if you see me mentioning a seizure on social media or in another blog post, this is what I'm talking about.
What do myoclonic episodes entail for me?
• If it's a minor episode, it may just appear as a twitch or a tic. My most common "minor episode" symptom is that my head will jerk to one side repeatedly. Sometimes in minor episodes my arm will jerk as well, or it will switch from my head jerking to my arm jerking.
• In the case of major episodes, I have intense, uncontrollable jerking and spasming all over my body. The jerks will tend to localize in one area for a period and then move to different parts of my body throughout the episode. Common localizations are in my legs, which will kick and thrash; my torso, which will basically have me doing involuntary crunches; and my face, which makes my eyes squeeze shut and my mouth either clench closed or open as wide as it will go. (The face localization looks really gross and scares the heck out of anyone who sees it, which could be seen as a plus or a minus, depending on how you look at it...) I will need to lie down in these cases and usually need someone to watch me to make sure I don't roll into a position where I might smother myself.
Did I mention that I'm 100% conscious and alert during all this? I'm awake, but depending on what's going on, I may not be able to respond. If it's localized in my face, I usually can't move my mouth because the muscles are spasming or stuck in a taut position.
As you can imagine, this can be really scary to see. I have had people call the paramedics for me, but they really can't do anything. I still remember lying on the floor of a clinic in 2014 while a bunch of paramedics hovered over me like, "Well, shit. I have never seen anything like this before." Always fun! So if you happen to see me having an episode, don't call 9-1-1; it won't help. Fortunately, at this point I've been having these episodes for so long that my family and my IRL best friend know how to handle it, and the odds of me being out without one of them nearby are very slim these days, so there's no need to worry.
Myoclonus can't be prevented, but episodes can usually be controlled with anti-convulsion medication once they've started. Untreated, episodes can last anywhere from a few minutes to several hours for the major ones. If an episode is severe enough, the anti-convulsion medication may not work, but usually that's not an issue.
"Essential myoclonus" seems to be pretty rare, though I had a hard time finding good data about it. NORD indicates that myoclonus in general affects 3-8 people out of every 100,000, if I'm understanding their statistics correctly. But this seems to include all forms of myoclonus, from epileptic to sleep (where you jerk when you're starting to fall asleep... I do that, too, actually). So I have no clue how many people have myoclonus like mine.
Regardless, I'm hoping that sharing my story might help anyone else out there who may experience symptoms like this and not know what's going on. (I mean, not like I know, either. But having someone out there who's going through the same thing as you might at least make you feel better!) If you or someone you know has been non-diagnosed with essential myoclonus, please feel free to leave a comment!
