Hi there,
First off: thanks to all the great people who take the time to reply to posters on this forum. I really appreciate what you do and am grateful for the time you give. I'm posting because I'm a young man who is being investigated for suspected motor neurone disease (bulbar onset) and would be grateful for some advice on navigating neurologists, and the best way to rule in or out MND as efficiently as possible.
Despite MND being put on the table (more details to follow), I have what I have been told is a slightly unusual medical history, which for a long while didn't fit clearly into MND nor any other known condition.
My problems began in August 2018 when after a run I spontaneously lost the ability to burp. It was very abnormal, as though the back of my throat/top of the back of my neck had suddenly gone slack. I was no longer able to control the muscles there to initiate a burp. Unfortunately, this, like all of my other symptoms did not improve with time. Muscles simply disappeared and never returned. At the same time I began having hundreds (between 100-200) microburps, hiccups and yawns every day, as well as random aches and pains throughout my body, and just generally feeling ill.
I saw a few GPs and specialists who didn't really take my problem seriously and I put it to the back of my mind. However, this became increasingly difficulty as my inability to burp led to increasingly severe bouts of trapped air and progressive bloating. From August onwards my core muscles began progressively weakening, a process which has now - three years on - advanced to a point where I can no longer do sit ups or rise normally out of bed. In February/March 2019 I suddenly began suffering from facial muscle twitches. These began under my eyes, and I thought little of it, but quickly advanced to include my cheeks, lips, chin and jaw.
Then, in June 2019, the same thing that had happened with my throat happened with the muscles under my tongue/chin. I spontaneously lost the ability to swallow. I could not for the life of me activate a swallow and when I could the muscles were spasmy and uncoordinated. Again, several muscles seemed to have vanished and were not working. Others were cramping painfully or contracting way too hard or too fast. There was a little tingling and clicking sensations around my Adam's Apple but no real pain or sensory symptoms. I was unable to swallow anything satisfactorily for a few weeks but then I managed to retrain myself and trigger a swallow by puffing out my cheeks and using different muscles. Over time my swallowing improved a little to the point where I could swallow though badly, although the muscles that had disappeared did not recover. From that point on my swallowing has slowly worsened and although I can now still swallow, it is becoming very precarious.
During this swallowing episode, the twitches migrated from my face to my neck and abdomen where there remained for the next few months as I began experiencing slowly worsening neck and core weakness, often with aching and cramping. Shortly after this the twitches moved to my shoulders and arms which slowly weakened in turn, and my legs. Now, three years on from the burping episode, and two and a half years on from the sudden swallowing issues I can no longer do any sports - because my muscles buckle - work out nor exercise with any intensity. Day to day tasks are becoming increasingly difficult. I can no longer chop hard vegetables one-handed, due to poor arm strength, and am beginning to have profound difficulty with things like bottle caps, particularly using my left hand. All of the progressive weakness has gone hand in glove with prominent wasting, spanning my neck, shoulders, chest, abs, arms and legs.
Because my weakness began so insidiously and because of my age (26) I had a hard time getting physicians to take my symptoms seriously to start and it is only recently that a doctor has explicitly said to me that they think I might have MND (having studied my history and noted brisk reflexes, clinical weakness and wasting in an exam). They have referred me to a local neurologist, however I have been told to expect a waiting time of about a year, so have opted to go private and am awaiting an appointment. Unfortunately, the only neurologist I can see in my area (Scotland) is a generalist with expertise in headaches - he doesn't specialise in neuromuscular disorders. Is this person going to be able to rule in or rule out MND effectively, or is it worth pushing to be seen by an MND specialist? I would be very grateful for some advice on this front.
The other thing I would love some advice on is if there is anywhere that I can find reliable information on about my outlook, if this is, as it is increasingly seeming, indeed MND? I understand bulbar is associated with a worse prognosis but that young age and a long delay until diagnosis augurs well. Is there a realistic chance that I could keep going with some decent quality of life for say, another five years? And if I can is there a realistic hope that some new treatments that could stop MND progressing might arrive in that time? (This is a particularly important question for me as it will inform my life decisions)
Thank you,
Flex
EDIT: I should add that at this point the main mimics of MND have been ruled out. My creatine kinase levels are normal, ruling out polymyositis and other autoimmune diseases as well as muscular dystrophies, and I also have a normal autoimmune profile - I tested negative for myaesthia gravis antibodies. I've had MRIs which offer no structural explanations for my problems. If anyone knows anything else which could be causing my symptoms which has not yet been ruled out, I would be keen to know.
First off: thanks to all the great people who take the time to reply to posters on this forum. I really appreciate what you do and am grateful for the time you give. I'm posting because I'm a young man who is being investigated for suspected motor neurone disease (bulbar onset) and would be grateful for some advice on navigating neurologists, and the best way to rule in or out MND as efficiently as possible.
Despite MND being put on the table (more details to follow), I have what I have been told is a slightly unusual medical history, which for a long while didn't fit clearly into MND nor any other known condition.
My problems began in August 2018 when after a run I spontaneously lost the ability to burp. It was very abnormal, as though the back of my throat/top of the back of my neck had suddenly gone slack. I was no longer able to control the muscles there to initiate a burp. Unfortunately, this, like all of my other symptoms did not improve with time. Muscles simply disappeared and never returned. At the same time I began having hundreds (between 100-200) microburps, hiccups and yawns every day, as well as random aches and pains throughout my body, and just generally feeling ill.
I saw a few GPs and specialists who didn't really take my problem seriously and I put it to the back of my mind. However, this became increasingly difficulty as my inability to burp led to increasingly severe bouts of trapped air and progressive bloating. From August onwards my core muscles began progressively weakening, a process which has now - three years on - advanced to a point where I can no longer do sit ups or rise normally out of bed. In February/March 2019 I suddenly began suffering from facial muscle twitches. These began under my eyes, and I thought little of it, but quickly advanced to include my cheeks, lips, chin and jaw.
Then, in June 2019, the same thing that had happened with my throat happened with the muscles under my tongue/chin. I spontaneously lost the ability to swallow. I could not for the life of me activate a swallow and when I could the muscles were spasmy and uncoordinated. Again, several muscles seemed to have vanished and were not working. Others were cramping painfully or contracting way too hard or too fast. There was a little tingling and clicking sensations around my Adam's Apple but no real pain or sensory symptoms. I was unable to swallow anything satisfactorily for a few weeks but then I managed to retrain myself and trigger a swallow by puffing out my cheeks and using different muscles. Over time my swallowing improved a little to the point where I could swallow though badly, although the muscles that had disappeared did not recover. From that point on my swallowing has slowly worsened and although I can now still swallow, it is becoming very precarious.
During this swallowing episode, the twitches migrated from my face to my neck and abdomen where there remained for the next few months as I began experiencing slowly worsening neck and core weakness, often with aching and cramping. Shortly after this the twitches moved to my shoulders and arms which slowly weakened in turn, and my legs. Now, three years on from the burping episode, and two and a half years on from the sudden swallowing issues I can no longer do any sports - because my muscles buckle - work out nor exercise with any intensity. Day to day tasks are becoming increasingly difficult. I can no longer chop hard vegetables one-handed, due to poor arm strength, and am beginning to have profound difficulty with things like bottle caps, particularly using my left hand. All of the progressive weakness has gone hand in glove with prominent wasting, spanning my neck, shoulders, chest, abs, arms and legs.
Because my weakness began so insidiously and because of my age (26) I had a hard time getting physicians to take my symptoms seriously to start and it is only recently that a doctor has explicitly said to me that they think I might have MND (having studied my history and noted brisk reflexes, clinical weakness and wasting in an exam). They have referred me to a local neurologist, however I have been told to expect a waiting time of about a year, so have opted to go private and am awaiting an appointment. Unfortunately, the only neurologist I can see in my area (Scotland) is a generalist with expertise in headaches - he doesn't specialise in neuromuscular disorders. Is this person going to be able to rule in or rule out MND effectively, or is it worth pushing to be seen by an MND specialist? I would be very grateful for some advice on this front.
The other thing I would love some advice on is if there is anywhere that I can find reliable information on about my outlook, if this is, as it is increasingly seeming, indeed MND? I understand bulbar is associated with a worse prognosis but that young age and a long delay until diagnosis augurs well. Is there a realistic chance that I could keep going with some decent quality of life for say, another five years? And if I can is there a realistic hope that some new treatments that could stop MND progressing might arrive in that time? (This is a particularly important question for me as it will inform my life decisions)
Thank you,
Flex
EDIT: I should add that at this point the main mimics of MND have been ruled out. My creatine kinase levels are normal, ruling out polymyositis and other autoimmune diseases as well as muscular dystrophies, and I also have a normal autoimmune profile - I tested negative for myaesthia gravis antibodies. I've had MRIs which offer no structural explanations for my problems. If anyone knows anything else which could be causing my symptoms which has not yet been ruled out, I would be keen to know.
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