• Kenneth Raymond

When Words Escape

Updated: Jan 18

Do you or a loved one have CMT? Are you or they experiencing voice or throat issues? If so, are the physicians scratching their heads because they can’t figure it out, or are they saying that nothing is wrong? Have the physicians said that there is no way that CMT can be causing any throat or voice issues?

Whether you are experiencing these things, or a loved one is, but nobody can explain the why or the how, this story is for you. If a loved one is experiencing these things, and you’re trying to get a handle on what they are experiencing, this story is also for you. If you’re having voice and throat issues but can’t figure out how to explain them so that your physicians will pay attention to you, this story is for you. If you’re a CMTer who is just trying to learn more about this disease, this story is for you. Really though, this story is for everybody. But, what is this story, you ask?

This is my personal story of the road trip to figuring out the root cause of my voice, vocals, and speech issues. It’s a journey spanning more than twenty years. Like most things with CMT, I was told along the way all kinds of crazy crap about what was actually causing my issues, including the prolific, “it’s all in your head, you are fine.” There is a real answer, it just took a long time to find it.

I was diagnosed in 2002 at 27, and I was genetically confirmed with 1A a year later. Now, 18 years post diagnosis, I finally have a definitive explanation and understanding of what’s going on with my voice/vocals/speech. As with all things CMT, there can be only a complex answer.

The short answer is that my issues are caused by my CMT. Root cause analysis, however, reveals a much more complex process at play. And, it’s one I hadn’t considered. You may be experiencing the same, but not have an explanation. If you’re not, this may help you if you do develop these issues down the road.

So, What’s Happening?

My voice gets weak quickly. I lose overall volume, my articulation can disappear, and I can have difficulty having the muscle strength to form and speak words. These issues worsen with use. My vocal cords and throat muscles essentially collapse, and this leaves my voice hoarse and it leaves my throat painfully sore. My voice/vocals/speech issues are such that they also affect my breathing.

The larynx and throat muscles comprise the upper airway. Well, ok, the larynx technically sits atop the lower airway, but I’m including it here as an upper airway structure for argument’s sake, and because of its proximity to and inclusion in the biomechanics of what I have going on. When this musculature is affected by a neuromuscular disease process, such is that with CMT, breathing can be negatively impacted. Alright then, how is my breathing affected by my voice/vocals/speech issues? I’m glad you asked. Let me explain.

Basically, it seems that earlier in life, relatively healthy people with CMT can overlook signs of compromised respiratory function which will start to cause more and more problems for them later. Better to recognize the symptoms and treat them early.

My breathing is such that I run out of air easily in mid-sentence, and mid-word if I keep on pushing. I struggle to get a full breath, and I especially struggle to fully expel because of a weakened diaphragm. When my throat muscles and vocal cords collapse, air flow gets impeded, and I have to work harder to breathe. The most remedial of tasks destroys my breathing. The same destroys my voice, even if I haven’t been talking. It can take hours to recover, and sometimes days.

What I described are all classic symptoms of bulbar muscle weakness and vocal cord paralysis. The bulbar muscles are the muscles of the throat and the mouth that are responsible for speech and swallowing. I also have transient swallowing issues, transient choking on air issues, and transient nasal regurgitation of liquids issues. These, too, are symptoms of bulbar muscle weakness. Bulbar muscle weakness and vocal cord paralysis are not unheard of in CMT. It can happen. How common it is in CMT is a topic of debate, but it can occur.

Root Cause at Its Best

Root cause analysis, especially in CMT, is vitally important. We already know that treating CMT is literally nothing more than putting a Band-Aid on something, and walking away. Change the Band-Aid as needed; and lather, rinse, repeat. However, if we don’t take the time to perform the investigative medicine to understand what the root cause of something is, then we’re basically just throwing mom’s spaghetti at the wall, waiting for something to stick, and then arbitrarily throwing a Band-Aid on it. If we don’t understand what’s going on at its core, how can we choose the right Band-Aid? We can’t. We shouldn’t.

I am a patient at the CMTA Center of Excellence CMT Clinic at the University of Michigan (Umich). Because of my CMT related respiratory issues, I am also a patient at the Umich Adult Assisted Ventilation Clinic, and I will transition to the forthcoming Umich Neuromuscular Pulmonology Clinic that will be ran in conjunction with Dr. Nowacek, who is the CMT clinic director. As of this past week, I’m a patient at the Umich Otolaryngology Clinic, because of my bulbar musculature issues. The ENT physician I saw, Dr. Kupfer, is a neuromuscular otolaryngologist, and, she’s a good one. This is where things get interesting.

I have bulbar muscle weakness and vocal cord paralysis symptoms. There’s no disputing that. Bulbar muscle weakness and especially vocal cord paralysis can occur with CMT. It would make sense that I therefore have bulbar muscle weakness with vocal cord paralysis, and it would make further sense that, because I have CMT, my bulbar muscle weakness with vocal cord paralysis is caused by my CMT. I mean, it does make sense, right?

A past physician, without investigation, relegated my bulbar musculature issues to my CMT diagnosis. It’s easy to decide that I have bulbar muscle involvement and vocal cord paralysis with my CMT. It’s simple. I have a CMT diagnosis already. No work involved. Move on. Next. Nothing is simple with CMT though, and this is why root cause analysis is so vitally important.

It is true that my bulbar muscles are involved. Videokymography (the camera scope that goes in through the nose for live viewing of the throat and vocal cords) shows clear evidence of vocal cord and throat musculature fatiguability and fatigable weakness. Visualization evidence supports my complaints. Things are not as they seem though. We have to dig deeper, literally, to understand what’s actually causing my issues.

My vocal cords are not paralyzed. My vocal cords, larynx muscles, and throat muscles, including the epiglottis, exhibit fatiguability and fatigable weakness that could be described as resulting in paresis (partial paralysis). They are so doing not necessarily because of CMT involvement in Cranial Nerves VII – XII (the nerves that control the bulbar muscles), but because of a biomechanical process referred to as Compensatory Activation. What is Compensatory Activation? I’m glad you asked.

May I Offer Some Assistance?

Compensatory Activation, in an oversimplified nutshell, is a process by which a muscle or a group of muscles become activated to perform a job that they normally would not do. They become activated to do this job because the muscle or muscles that normally do the job no longer function well, and these activated muscles are compensating for the loss of function in the correct muscle. Hence, Compensatory Activation. This isn’t reserved for only muscles though.

A prime example of Compensatory Activation is how senses become heightened when we lose one of our senses. Somebody who is visually impaired tends to have heightened hearing, smell, and touch, and can feel and hear the movement of air from somebody waving at them. Somebody who is hearing impaired tends to have heightened peripheral sight and the ability to feel the air pressure of noises, like a baby’s cry in another room or a knock on a door. The other senses activate in order to compensate for the loss of function of another sense. Compensatory Activation.

My bulbar muscle Compensatory Activation is occurring because my diaphragm is weakened by my CMT. Phrenic nerve involvement, ergo diaphragm weakness and paralysis, occurs significantly more frequently than physicians and clinicians are willing to admit. Published papers and tens of thousands of CMTer conflict with the narrative that respiratory involvement is exceedingly rare in CMT, or that it’s reserved for just a few ultra-rare subtypes. I am one of those who conflict with this conventional wisdom, and you might be, too.

There’s A Thing About the Diaphragm

The diaphragm is the principle muscle for breathing. It’s also the principle muscle for speech volume. Our vocal cords control pitch, our diaphragm controls volume. Phonation (the physical act of the vocal cords making sounds) occurs in part, in a nutshell, by air moving through and out of the larynx. The diaphragm is the principle muscle for moving this air. Because the larynx (the vocal cords) sits atop the trachea (the wind pipe) at the base of the throat, air passes through the vocal cords during inhalation and expiration.

In a very complex coordination of bulbar musculature movements, we create articulation. In normal speech phonation, we use our diaphragm to push air through our vocal cords as we make our vocal cords vibrate against each other. The vocal cords make the sound, the air pushing through them determine how loud the sound is. A good visual representation of this volume control is a box fan with a bunch of streamers tied to the front of it.

Metaphorically Speaking

Grab any ole box fan. You can use an oscillating fan, too. Grab some paper or plastic party streamers and tie them to the front grill of the fan. The fan represents the diaphragm, and the streamers represent the vocal cords. Turn the fan on low. The air moving through the streamers creates a certain loudness (volume) within the streamers. Now, turn the fan speed up a notch. You’ll notice a change in the loudness of the streamers. Next, crank the fan speed to its highest setting, and notice the change in the loudness of the streamers.

In this basic fan-and-streamers representation, the change in loudness is proportional to the change in how much air is being forced through the streamers. This is how we control our speech volume. The louder our voice, the more air we are forcing through our vocal cords. The more air we force through, the louder our voice. This is also how singers control their vocal volume, and how singers project their voice. Remember I said that we had to dig deeper to understand my bulbar musculature issues? Well, let’s dig deeper.

Bulbars, Activate!

The Compensatory Activation I am experiencing is occurring because my diaphragm is weakened. My bulbar muscles, including those of my larynx, are activating to compensate for my weakened diaphragm. They are activating to assist with the volume control of my voice, and this includes my vocal cords assisting with volume. Because these muscles aren’t normally responsible for these tasks, they get easily worn out. They exhibit fatiguability and fatigable weakness because they are performing tasks they aren’t supposed to, and are so doing additional to their normal function.

The fatiguability and fatigable weakness exhibited by my bulbar musculature leads to a degree of paresis. As each component becomes affected by paresis, the remaining components work that much harder. As everything is working overtime in ways they normally don’t function, everything becomes inflamed. This inflammation causes painful hoarseness and painful soreness. These things are not occurring because my CMT has weakened my bulbar musculature as conventional wisdom would suggest. Rather, it’s happening because my CMT has weakened my diaphragm. Cool, right? But, wait, there’s more.

I started to pay close attention to my voice in the summer of 2018. I learned during that summer that I can gauge how much I’ve over-done-it by how weakened my voice gets. I don’t have to have been talking a lot. Hell, I don’t have to have said a word. Any amount of physical activity, no matter how basic, can and does affect my voice. The more I do, the worse my voice gets. This has been going on for many years. I’m not sure when it started, but it predates my diagnoses and it’s been progressive. Why does this happen though?

Why, Carly Beth, Why?

My voice is weakened by physical activity, even when not having talked at all. This happens because of the Compensatory Activation occurring in my bulbar musculature that is compensating for my weakened diaphragm during breathing. The same muscles that are activating to assist with speech volume control are activating to also assist with breathing. They’re doing these two things while also working to perform their normal job.

When all of these aggregate parts of the puzzle are pieced together, it’s easy to see why my throat muscles and my vocal cords get weak quickly, get worn out quickly, and get painfully sore quickly. It’s no wonder that with continued use and with continued exertion, I lose speech articulation, and can lose it to the point of not being able to physically form words. All of this was witnessed in real time via videokymography.

The Big Reveal

Root cause analysis revealed that yes, my throat and voice issues are related to my CMT. Root cause analysis further revealed that my bulbar muscle involvement is not a direct result of my CMT insofar as evidence does not at this time support that my issues are caused by any Cranial Nerves VII – XII involvement that might be present. Rather, my bulbar muscle involvement is indirect insofar as root cause analysis revealed that Compensatory Activation of my bulbar muscles is occurring. And, this Compensatory Activation is occurring because my CMT has weakened my diaphragm. Questions answered.

My bulbar musculature is not directly weakened by my CMT. This is a plus. My bulbar musculature is not directly exhibiting CMT caused paresis or paralysis. This, too, is a plus. While my CMT does involve the bulbar muscles, they are involved indirectly at the behest of my diaphragm being directly weakened by my CMT. Knowing the intrinsic root cause of my bulbar musculature issues allows us to design a mitigation therapy that is properly tailored to the deficits I have rather than approaching the problem with conventional wisdom and applying techniques that could very well do more harm than good.

The plan we arrived at via informed decision making upon identifying the root cause is to work with a neuromuscular speech pathologist, whom is also at Umich, to develop a speech therapy program that will help to maximize the efficient use of the muscle function I do have, while minimizing the abuse suffered by my Compensatory Activation. Remember Dr. Kupfer? She’s the neuromuscular ENT physician I mentioned earlier. Well, Dr. Kupfer knows what’s up.

Dr. Kupfer suggested that, had she turfed me out to speech therapy without first investigating the true cause of my symptoms and complaints, her instructions to the speech pathologist would have been profoundly different. She feels that so doing without having first performed root cause investigatory medicine would have ended up causing more harm by making things worse than they already are.

In Closing

I’m not a physician or a clinician. I never try to diagnose myself, and I am certainly not qualified to diagnose anybody else, nor would I try. A few years ago, my CMT physician at the time, who I trust to this day even though they are no longer my physician, said that my bulbar musculature complaints and symptoms were consistent with bulbar muscle weakness and vocal cord paralysis, and that both are consistent with being caused by my CMT. They felt they didn’t need to pursue needless investigatory work, I was comfortable with how everything was explained, and it made sense to me. However, things have only gotten worse.

With everything I have learned regarding CMT since then, the explanation for my bulbar muscle issues stopped making sense, and I started pushing for answers. I am very fortunate to have the physicians I have, and I am very fortunate to be plugged into the medical system that I am. Even being as fortunate as I am, none of these latest findings would be possible if it wasn’t for my tenacious self-advocacy, and that of my wife’s. Never be afraid to advocate for yourself. No matter the physician or clinician, push for answers when nothing makes sense. There is always an explanation. There is always an answer. Never accept otherwise. Ever.

Nothing is easy or simple with CMT. There is only complexity. This disease affects everybody vastly differently, and even within the same family. If you’re having some of the same issues that I talk about in this story, but your physician is scratching their head because they can’t explain it, or they think you’re making it up, or it just doesn’t make sense, show them this story. The root cause of what I’m experiencing might be the inexplicable root cause of what you’re experiencing. If it’s not, don’t stop advocating, don’t stop pushing until you have your definitive answer. The answers are there, if somebody knows how to look, and if somebody understands what they are looking at.

#cmt #cmtrespiratoryissues #cmt1a #cmta #respiratoryfailure #neuromuscularrespiratoryfailure

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My name is Kenneth Raymond. I am a CMTer who was diagnosed in 2002 at 29 years old, and then genetically confirmed to have 1A a year later. Since diagnosis, I have made it my mission to learn and absorb everything I can about CMT as a whole.


I am passionate about sharing everything I have learned, and to share it through engaging narratives and easy to follow explanations. Charcot Marie Tooth disease is inherently confusing. I do everything I can to remove that confusion, and to do so from a CMTer perspective, for a CMTer. The Cryptid Sloth Blog is the vehicle that allows me to share everything I’ve learned and continue to learn.

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