Swallowing difficulties, but I'm at a diagnostic dead end. What next?
December 4, 2023 8:49 AM Subscribe
You are not my doctor, but I'm at a bit of an impasse and could use some outside advice. 2 years ago I, a mid-50's male, got a covid-negative cold and developed difficulties swallowing solids: food gets to the back of my throat, but there's no swallow reflex. I've been through a passel of tests, and I'm totally fine. Except for the swallowing problems.
I can swallow liquids, and can get down a burger in an hour or so with enough water. The severity gets slowly better and worse with no obvious triggers. I'm negative for common pathogens, had scopes down my throat and up my nose, x-ray swallowing tests with a speech therapist, and a neck/brain MRI, even dental examinations, and it's all normal.
Current theories include pseudodysphagia (the psychosomatic form of swallowing difficulties), unexpected lack of muscle tone, cervicogenic dysphagia (effectively neck-spine issues), weird sleep apnea interaction, or a strange long-term infection involving the nerves.
I'm in sub-1% rarity for a couple other well controlled metabolic/genetic health issues, so now my tolerance for the medical world is low.
If you were me, and you were going to visit one medical professional about this next year, where would you go?
I can swallow liquids, and can get down a burger in an hour or so with enough water. The severity gets slowly better and worse with no obvious triggers. I'm negative for common pathogens, had scopes down my throat and up my nose, x-ray swallowing tests with a speech therapist, and a neck/brain MRI, even dental examinations, and it's all normal.
Current theories include pseudodysphagia (the psychosomatic form of swallowing difficulties), unexpected lack of muscle tone, cervicogenic dysphagia (effectively neck-spine issues), weird sleep apnea interaction, or a strange long-term infection involving the nerves.
I'm in sub-1% rarity for a couple other well controlled metabolic/genetic health issues, so now my tolerance for the medical world is low.
If you were me, and you were going to visit one medical professional about this next year, where would you go?
Any other muscle weakness? Are your other metabolic/genetic conditions mitochondrial perhaps? If you have not already, consider checking in with your metabolic genetics team and/or the larger disease-specific community for your condition. They may have similar experiences.
posted by beaning at 9:20 AM on December 4, 2023
posted by beaning at 9:20 AM on December 4, 2023
Did your dental exams rule out salivary flow problems? it sounds like you have a swallow reflex for liquids, but solid foods need some lubrication, just based on your description.
Do you have dry mouth?
posted by OHenryPacey at 9:20 AM on December 4, 2023
Do you have dry mouth?
posted by OHenryPacey at 9:20 AM on December 4, 2023
Several autoimmune diseases come along with swallowing problems (most prominently Sjogren's), also as first symptom, and don't forget mysethenia gravis. So, rheumatology consult.
posted by Dashy at 9:22 AM on December 4, 2023 [2 favorites]
posted by Dashy at 9:22 AM on December 4, 2023 [2 favorites]
Response by poster: Thanks for the ideas all!
My father died in his 80's from an idiopathic degenerative neurological condition that matches OPMD.. pretty well? Not in the known clusters based on a quick read, but it might be a possibility.
No other muscle weakness, other issues are idiopathic broad-spectrum clinical vitamin deficiencies. So, possibly mitochondrial.
No dry mouth, dental appears normal, if deformed.
When attempting to diagnose my other issues, I've been through a number of rheumatology test cycles, all negative. But, that was 15 years ago, so it might be something to look at.
posted by SunSnork at 9:35 AM on December 4, 2023
My father died in his 80's from an idiopathic degenerative neurological condition that matches OPMD.. pretty well? Not in the known clusters based on a quick read, but it might be a possibility.
No other muscle weakness, other issues are idiopathic broad-spectrum clinical vitamin deficiencies. So, possibly mitochondrial.
No dry mouth, dental appears normal, if deformed.
When attempting to diagnose my other issues, I've been through a number of rheumatology test cycles, all negative. But, that was 15 years ago, so it might be something to look at.
posted by SunSnork at 9:35 AM on December 4, 2023
Best answer: You mentioned doing swallowing tests with a speech therapist, but have you tried going to a speech therapist for physical therapy? I have a different set of swallowing issues but that's where I ultimately ended up getting the most help/progress.
posted by space snail at 9:42 AM on December 4, 2023 [3 favorites]
posted by space snail at 9:42 AM on December 4, 2023 [3 favorites]
Have you worked with an occupational therapist yet? They are unlikely to help diagnose you but could improve your quality of life while you continue the search. They often work in teams with speech therapists, so maybe reach out to the one you worked with before and ask if they have someone to recommend.
posted by Mizu at 9:49 AM on December 4, 2023
posted by Mizu at 9:49 AM on December 4, 2023
If I had the same symptoms and family history, I'd be camping out in a neurologist's office willing to go down a diagnostic rabbit hole deeper than one MRI.
posted by ImproviseOrDie at 9:58 AM on December 4, 2023 [6 favorites]
posted by ImproviseOrDie at 9:58 AM on December 4, 2023 [6 favorites]
I assume they ruled out GERD? I actually sometimes get some weird swallowing issues when my allergies are bad; does it improve if you take, say, a Claritin?
posted by Countess Sandwich at 10:07 AM on December 4, 2023 [2 favorites]
posted by Countess Sandwich at 10:07 AM on December 4, 2023 [2 favorites]
Like ImproviseOrDie I also thought neurology, although take with some grains of salt in my case because I work on a neurodegenerative disease so that’s what I’m always thinking about anyhow.
An old roommate of mine had a swallowing disorder called achalasia. I think it was similar to this — if memory serves he had to take all his food with significant liquid. No idea if that’s helpful (IANAD).
I hear you when you say you don’t love medicine in general. Are you happy enough with your primary care doctor? If so, where do they want to send you next?
posted by eirias at 10:22 AM on December 4, 2023
An old roommate of mine had a swallowing disorder called achalasia. I think it was similar to this — if memory serves he had to take all his food with significant liquid. No idea if that’s helpful (IANAD).
I hear you when you say you don’t love medicine in general. Are you happy enough with your primary care doctor? If so, where do they want to send you next?
posted by eirias at 10:22 AM on December 4, 2023
Random shot in the dark: are you taking any SSRIs? I knew someone who developed serotonin toxicity and it really fucked with their muscles.
posted by aramaic at 11:50 AM on December 4, 2023
posted by aramaic at 11:50 AM on December 4, 2023
Response by poster: I haven't done the physical/speech therapy yet. The speech therapist that I worked with on the testing mentioned that it *might* be useful, but wasn't terribly hopeful. I think it's the most likely next step.
There are no indications of GERD or esophageal involvement.
My neurologist is, bluntly, indifferent. I need one that is more invested, but lead times are often > 6 months for even an attempt in my region.
My primary care doc, the best doc I've ever worked with, whose nurses called her "Dr. House", apparently burned the bridge with the local hospital system in disgust and is now unavailable. I'm looking for a new GP that can deal with weird stuff, but haven't had much success yet. Maybe I need a younger one that still believes in zebras over horses.
No SSRI's, they don't agree with me. I've recently been taking low dose ADHD meds, but no direct correlation to symptoms for them.
Thanks again all.
posted by SunSnork at 12:26 PM on December 4, 2023
There are no indications of GERD or esophageal involvement.
My neurologist is, bluntly, indifferent. I need one that is more invested, but lead times are often > 6 months for even an attempt in my region.
My primary care doc, the best doc I've ever worked with, whose nurses called her "Dr. House", apparently burned the bridge with the local hospital system in disgust and is now unavailable. I'm looking for a new GP that can deal with weird stuff, but haven't had much success yet. Maybe I need a younger one that still believes in zebras over horses.
No SSRI's, they don't agree with me. I've recently been taking low dose ADHD meds, but no direct correlation to symptoms for them.
Thanks again all.
posted by SunSnork at 12:26 PM on December 4, 2023
Can you see what happened to the "Dr House" PCP? I think lawyers run medicine now, with all the noncompete agreements, but I was able to follow a doctor who performed surgery on one of my thumbs after he abruptly left the practice where I had seen him, and he popped up at a competing health system. It took a month or two and was a drive away (noncompete again), but I pursued him and had successful thumb surgery on my second hand. This seems like a doctor worth pursuing.
posted by citygirl at 4:37 PM on December 4, 2023
posted by citygirl at 4:37 PM on December 4, 2023
re: "I haven't done the physical/speech therapy yet. The speech therapist that I worked with on the testing mentioned that it *might* be useful, but wasn't terribly hopeful. I think it's the most likely next step."
For what it's worth, this was my situation too! The speech therapist who gave me the test all but steered me AWAY from doing physical therapy with a speech therapist (admittedly it was during the height of the pandemic so I can understand why that didn't seem like a great idea at the time) but the 'I guess you can try it if you want??' vibe kept me from trying it for entirely too long.
posted by space snail at 6:13 PM on December 4, 2023 [1 favorite]
For what it's worth, this was my situation too! The speech therapist who gave me the test all but steered me AWAY from doing physical therapy with a speech therapist (admittedly it was during the height of the pandemic so I can understand why that didn't seem like a great idea at the time) but the 'I guess you can try it if you want??' vibe kept me from trying it for entirely too long.
posted by space snail at 6:13 PM on December 4, 2023 [1 favorite]
My neurologist is, bluntly, indifferent. I need one that is more invested, but lead times are often > 6 months for even an attempt in my region.
I still recommend a neurologist to investigate the cause and rule out the big scary stuff. It sucks that yours is indifferent. During the 6-month wait for a new one, you could 1) do speech therapy to try to alleviate the symptoms, and 2) meet with a genetic counselor to rule out what your father had. That would all be data to take to the neurologist.
On the one hand, that you've had this issue for two years means you're able to more or less live with it, and it may not be due to anything dire. On the other hand, dysphagia is a common symptom of some pretty grim neurological diseases, and no matter the cause, it's common for it to cause aspiration pneumonia. I have a sad family experience in this area. And you have a family history. That's why I'm back to suggest a neurologist.
posted by ImproviseOrDie at 8:37 AM on December 5, 2023
I still recommend a neurologist to investigate the cause and rule out the big scary stuff. It sucks that yours is indifferent. During the 6-month wait for a new one, you could 1) do speech therapy to try to alleviate the symptoms, and 2) meet with a genetic counselor to rule out what your father had. That would all be data to take to the neurologist.
On the one hand, that you've had this issue for two years means you're able to more or less live with it, and it may not be due to anything dire. On the other hand, dysphagia is a common symptom of some pretty grim neurological diseases, and no matter the cause, it's common for it to cause aspiration pneumonia. I have a sad family experience in this area. And you have a family history. That's why I'm back to suggest a neurologist.
posted by ImproviseOrDie at 8:37 AM on December 5, 2023
IANYD and I don't have a good solution, but diagnosis-wise? long-shot-sounds-like it could be what Dr. Jamie Koufman, ENT, sort of the godmother of LPR (laryngopharyngeal reflux, aka "silent reflux"), would call a "PVVN" - post viral vagal neuropathy. Her theory for years has been that some percentage of people will get an upper respiratory infection... then when it is gone, they're left with some variety of gut-throat-mouth symptoms that do not immediately go away, or they linger, or seem permanent. Various post-viral "sequelae" as they're called are not uncommon with a number of diseases. (hello, long covid, Post polio syndrome, etc). Dr. Koufman (now retired, I think, though you can pay for a $$$ online consult with her if you were so inclined) typically treats after diagnosis with neuro meds & altered dietary/lifestyle changes. In my case, 1 year of doing her treatments to the letter didn't do much, although 7 years later, now, it seems like i'm mildly improved compared to when I first starting having the problem. Which began after a flu type bug, that only lasted maybe 4 days. Blerg.
Not saying this is you, but as somebody who has fought a variety of lifelong ailments and now have multiple autoimmune diseases, I feel your pain.
Anyway, you can poke around her website at no charge and read up on vagus nerve stuff, may or may not be useful. Again, not saying you even have any kind of reflux per se, but I think her idea that people get these neurologic-type post-viral deficits that affect eating/breathing/speaking, is something.
posted by bitterkitten at 12:46 PM on December 6, 2023 [1 favorite]
Not saying this is you, but as somebody who has fought a variety of lifelong ailments and now have multiple autoimmune diseases, I feel your pain.
Anyway, you can poke around her website at no charge and read up on vagus nerve stuff, may or may not be useful. Again, not saying you even have any kind of reflux per se, but I think her idea that people get these neurologic-type post-viral deficits that affect eating/breathing/speaking, is something.
posted by bitterkitten at 12:46 PM on December 6, 2023 [1 favorite]
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posted by evnstarwen at 9:05 AM on December 4, 2023 [4 favorites]