Extreme dysphagia, diagnosed with "unspecified autoimmune", would like some input

[kpareed44]

Extreme dysphagia, diagnosed with "unspecified autoimmune", would like some input

I have done the math, and I'm a statistician - getting diagnosed with ALS is extremely rare. For someone like me, younger than 30 (I am 29), it's even more rare. On top of that, "bulbar onset ALS" is an additional degree of "rareness". So I know that the numbers are entirely stacked in my favor, fantastic.

However, in September, I noticed that I was choking on food a lot and could not pronounce the word "still" - it always came out as "steel" unless I really tried. I had no other symptoms but the difficulty swallowing got worse. I was put through a battery of tests to check for brain tumor or stroke, and my neurologist noted that I definitely had a 9th and 12th nerve cranial palsy with unknown etiology. He figured it was autoimmune, similar to Guillain Barre, and put me on very high dose steroids after I came back negative for everything.

My swallowing definitely improved after the steroids (probably also points away from ALS, correct?). However, it's getting slightly worse again and I'm just in absolute terror that they ruled out just about every disease out there and still can't come up with a diagnosis, so much so that I finally asked him about ALS.

The most concerning "additional symptom" to my swallowing problems is fasiculations. I get them everywhere in my body, but primarily in my tongue. This is not a "tiny twitch". This is a constant writhing that I can't even feel at all when I stick my tongue out. I took video and sent it to the doc, but would like some input from some of you as well, because this looks exactly what the ALS patients on youtube have, and I couldn't fake this if I tried:

https://www.youtube.com/watch?v=LJIgUio2Hvo&feature=youtu.be

 

[lgelb]

Re: Extreme dysphagia, diagnosed with "unspecified autoimmune", would like some input

Dear K,

As you are aware, the differential for IX/XII cranial nerve dysfunction is extensive, ranging from tumors to fungi to blood clots.

Was one of the "battery of tests" an EMG?

And yes, improvement with steroids, albeit limited and/or temporary, points away from ALS and toward an autoimmune, infectious or oncologic condition.

If your neuro can't figure it out, find another neuro for a 2nd opinion. You are in an academic hotbed.

 

[kpareed44]

Re: Extreme dysphagia, diagnosed with "unspecified autoimmune", would like some input

Battery of tests is EXTENSIVE.

All blood metabolic pannels, absolutely no pathogens (they tested for Lyme, Cryptococcal, syphillis, lots of other rare ones), spinal tap came back clean with no indications of olidengrical bands, so no Multiple Sclerosis. MRI came back negative for anything physical in the brain. No Guillain Barre antibodies, although this is what the doc is suspecting - some variant of it. I believe all in all I gave 30 vials of blood over time and had a few scans, including a swallowing study, which noted "slow swallowing".

EMG has not been done yet, ALS has not even come up in our discussions. He's treating without a diagnosis basically. Like I said, the steroids worked, at least I was able to eat much better afterwards, but I'm wondering if it was true improvement or if it was just me learning to cope with my new swallowing problems.

I've lost 40 lbs and could not even tolerate liquids well, but I can tolerate them well enough with compensatory strategies now and can eat a lot more things. But I don't quite feel like I'm recovering, I really do feel like I'm just dealing with it and slowing my eating speed, as my SLP helped me with.

I don't know if I need to pursue ALS or not, but at this point, starting to regress again is really making me think I need to explore ALS.

 

[KarenNWendyn]

Re: Extreme dysphagia, diagnosed with "unspecified autoimmune", would like some input

I agree with Laurie that the response to corticosteroids goes against ALS. On this forum, we can only really state whether or not someone’s symptoms suggest ALS. However, you have piqued my curiosity, so I’m going to raise some other questions. I really have no idea what you have, but there are other questions and things to consider.

First, palsies of the 9th and 12th cranial nerves are extremely rare but would cause dysphagia. Nerve 9 controls the soft palate and nerve 12 controls the tongue. Was there evidence of nerve dysfunction in any other areas? Eg any numbness or tingling anywhere? Sharp pains? Weakness anywhere else in the body? Is there any other evidence of a multi-system disease? Eg fevers, night sweats, rashes, elevated liver enzymes, high blood pressure? Abnormal kidney function? Diarrhea? Swollen glands?

Any of the above in combination with the dysphagia might hint more towards vasculitis, connective tissue diseases, infections, or malignancy. I think an EMG would be helpful, and I definitely agree with getting another opinion. If not already tested, I would also suggest blood tests for HIV and hepatitis B as these can actually be associated with weird neuromuscular problems. Also SPEP and IEP (your doctor will know what these are). CRP and ESR would suggest systemic inflammation if elevated , and should be normal in ALS. An ANA and ANA panel should also be checked as systemic lupus, Sjogrens Syndrome, and scleroderma can all be associated with cranial nerve palsies. Finally, was the response to the steroids complete reversal of the dysphagia or just a feeling of improved well-being? I ask because a lot of people get a non-specific euphoria from Prednisone which sometimes can be confused with true reversal of symptoms.

Good luck and please give us followup once your situation gets further clarified.

 

[kpareed44]

Re: Extreme dysphagia, diagnosed with "unspecified autoimmune", would like some input

I agree with Laurie that the response to corticosteroids goes against ALS. On this forum, we can only really state whether or not someone’s symptoms suggest ALS. However, you have piqued my curiosity, so I’m going to raise some other questions. I really have no idea what you have, but there are other questions and things to consider.

First, palsies of the 9th and 12th cranial nerves are extremely rare but would cause dysphagia. Nerve 9 controls the soft palate and nerve 12 controls the tongue. Was there evidence of nerve dysfunction in any other areas? Eg any numbness or tingling anywhere? Sharp pains? Weakness anywhere else in the body? Is there any other evidence of a multi-system disease? Eg fevers, night sweats, rashes, elevated liver enzymes, high blood pressure? Abnormal kidney function? Diarrhea? Swollen glands?

Any of the above in combination with the dysphagia might hint more towards vasculitis, connective tissue diseases, infections, or malignancy. I think an EMG would be helpful, and I definitely agree with getting another opinion. If not already tested, I would also suggest blood tests for HIV and hepatitis B as these can actually be associated with weird neuromuscular problems. Also SPEP and IEP (your doctor will know what these are). CRP and ESR would suggest systemic inflammation if elevated , and should be normal in ALS. An ANA and ANA panel should also be checked as systemic lupus, Sjogrens Syndrome, and scleroderma can all be associated with cranial nerve palsies. Finally, was the response to the steroids complete reversal of the dysphagia or just a feeling of improved well-being? I ask because a lot of people get a non-specific euphoria from Prednisone which sometimes can be confused with true reversal of symptoms.

Good luck and please give us followup once your situation gets further clarified.

Thanks for your thoughtful reply. There were a few incidents but it's hard to connect anything, you know? I first noticed choking on food way back in April, but it was occasional and I just thought it was my body being weird. I also noticed difficulty breathing from time to time, especially after eating. I wasn't too alarmed, as I've had medical problems in the past and figured I could just get through it, and these things were extremely rare.

Some of the "random stuff" that seemed to happen to me were feelings of extreme heat and heart pounding out of my chest and nearly passing out(which my doctor at the time marked as Vasovagal syncope), finger and toe numbness, etc. These are all things that I don't know if they are connected though because the REAL problems started in September, when I absolutely had no ability to swallow. I was choking on every 10th sip of liquid and solid foods were impossible to get down.

To answer your other questions on my medical history, I've always had high blood pressure but everything else was great, no evidence of any multi system disease.

When things got so bad that I was limited to two ensure shakes a day is when I demanded answers, and they put me through the battery. I saw a SLP during this time and so it makes another of your questions really hard for me to answer - did the steroids work, or was I just experiencing euphoria? I don't think my dysphagia ever completely reversed, and I've practiced the SLP methods (eating much more slowly, holding liquids in my mouth before swallowing). That has never returned to normal. Objectively from the outside, I saw improvement after steroids - my weight loss stopped and I was able to double my calories. Internally though, I do wonder if this is all because I am eating slower.

I want to say that they helped though - I don't see any way on earth during the peak of this I would be able to eat, say chicken wings. Now I can. But I still have trouble with rice and other things that can't be chewed into very mushy globs, and I've ABSOLUTELY lost the ability to swallow pills.

I do get tired when reading books to my two year old, to the point that I'll skip whole sentences to make it go faster, I just get out of breath a little easier.

I wouldn't be too concerned if it weren't for the fact that it seems to be declining again, albeit slowly. My doctor is considering putting me on long term steroids but I'm kind of just burnt out, like they are treating me for something they absolutely don't know I have. He's stumped because, as you said, IX-XII palsies are very rare and mine seems to have none of the "typical" causes.

I have not taken a SPEP test but I have taken an ESR, and I believe I took an IEP to test for Guillain Barre. Both came back fine. I have not taken an ANA panel but I have taken some individual tests it tests for - I do not have Scleroderma or Lupus, as far as they can tell.

About the only blood test that came back bad was that my vitamin D is low.

I DO have an extremely exaggerated gag reflex (more than anyone I've ever met and it's thrown doctors off) but I've had that for as long as I can remember.

I'll make sure to keep you all up to date. I sent the video to my doc just to get his opinion on it.

 

[KimT]

Re: Extreme dysphagia, diagnosed with "unspecified autoimmune", would like some input

I see no harm in a nerve conduction study and EMG. If they are treating you for a non-specific autoimmune disease I would want to pursue that further with more specific tests. Not sure why they didn't do ANA. Did they do MRIs on brain and full spine?

Your post sounds very rational and I would push for more testing to figure out what is going on.

 

[kpareed44]

Re: Extreme dysphagia, diagnosed with "unspecified autoimmune", would like some input

I see no harm in a nerve conduction study and EMG. If they are treating you for a non-specific autoimmune disease I would want to pursue that further with more specific tests. Not sure why they didn't do ANA. Did they do MRIs on brain and full spine?

Your post sounds very rational and I would push for more testing to figure out what is going on.

Only MRI on brain, no full spine - made sense though, I don’t have much if any complaints lower than my cranial nerves. Not sure about the ANA, I’ll maybe ask him about I soon. They tested for so many autoimmune markers in just not sure they saw any benefit in it. He thinks that it’s a variant of GBS that didn’t show up on tests and that’s about it.

Unfortunately I don’t have much room for a second opinion either - it’s a managed care facility where insurance is connected to the Kaiser Permanente system of medical centers.

I really appreciate you telling me I’m being rational. I am afraid of ALS but more afraid of not knowing what’s going on in my body and treating it without any course of action.

 

[gooseberry]

Re: Extreme dysphagia, diagnosed with "unspecified autoimmune", would like some input

Check on iga nephritis. It can cause eating issues, high blood pressure, massive body inflammation, and shortness of breath. Steroids are the first line of treatment.

 

[kpareed44]

Re: Extreme dysphagia, diagnosed with "unspecified autoimmune", would like some input

I'll ask him about it, I'm compiling a list. Unfortunately I think all of my medical stuff is on hold for a week or so while we're all on Thanksgiving holiday. I'm just going to try not to think about it all and take my eating slowly as always.

The wait and uncertainty is hard as hell.

 

[KimT]

Re: Extreme dysphagia, diagnosed with "unspecified autoimmune", would like some input

You can always try appealing for a second opinion. I went to Mayo not even knowing if my insurance would pay for repeat tests. Turns out they did but I had a PPO at the time and Mayo was actually in network. But the other facility was out of network and my insurance made a partial payment. I never received a bill for the rest. I think they wrote it down to the partial payment.

 

[Kristina1]

Re: Extreme dysphagia, diagnosed with "unspecified autoimmune", would like some input

The new year is approaching-- how would you feel about switching to a PPO insurance plan that would allow you broader access to specialists and an appropriate 2nd opinion? Even absent ALS, if you are looking at a rare and serious condition of any kind it may be a better financial plan to acquire more expensive insurance that will offer you better coverage and access.

 

[kpareed44]

Re: Extreme dysphagia, diagnosed with "unspecified autoimmune", would like some input

Well... this holiday has been difficult. I get tired when I speak too long and swallowing starts out ok but difficulty swallowing has just turned into tired swallowing. Like literally I have to take a nap after eating because it feels like I’ve had a workout. I sent the video to my doctor who did not feel like it looked like fasics of the tongue but who was concerned about my continuing symptoms - his recommendation was a long term immunosuppressant.

I don’t know what to do. I may take him up on it but this feels like they are throwing nuclear bomb drugs at a disease they have no idea about.

 

[KarenNWendyn]

Re: Extreme dysphagia, diagnosed with "unspecified autoimmune", would like some input

I definitely recommend seeking a second opinion. While you could certainly have an autoimmune condition, it would be a pity to take immunosuppressive drugs without knowing what it is you are treating.

 

[affected]

Re: Extreme dysphagia, diagnosed with "unspecified autoimmune", would like some input

Your tongue looks perfectly normal in the video - mine moves the same if I stick it out and try to hold it still.

My husband had bulbar onset and his tongue looked nothing like yours.

Please trust your doctors to work on this, but nothing you describe sounds like bulbar onset ALS.

I truly wish you all the best.

 

[kpareed44]

Re: Extreme dysphagia, diagnosed with "unspecified autoimmune", would like some input

The doctor would like to explore CIDP. Apparently one of the symptoms I'm having, which I didn't even talk about, a "burning sensation" under the soles of my feet and in my toes, are characteristic of the disease and other neuropathies, and very non-suggestive of ALS. I'm scheduling an appointment to go back in sometime soon. Life right now kind of sucks for me. I wake up every day to see what new nerve sensation I'm going to experience... inability to swallow? Difficulty pronouncing words? Burning sensations? Feeling of a hand around my neck? Gagging on absolutely nothing completely out of nowhere? All a roll of the dice every morning I wake up.