rose
Extremely helpful member
- Joined
- Mar 29, 2008
- Messages
- 2,925
- Reason
- DX MND
- Diagnosis
- 7/2008
- Country
- US
- State
- Maryland
- City
- Anytown
I don't even know what to think! But after trying to organize my thoughts well enough to respond to a couple of private messages, I feel I'm coherent enough to throw it out here into the forum.
A quick history:
Although I had bulbar (mostly voice, followed by swallowing) weakness, and some breathing issues in the beginning of my diagnostic voyage, at first I spent a good while stuck in the rheumatology category of diagnostics, because, along with the above mentioned problems, I also had dry eye and dry mouth. Additionally, somewhere along the way I noticed I had lost a good part of my sense of taste. After many months of immunosuppressants (plaquenil and methotrexate, restasis for the dry eye) plus prednisone,, I finally made it to a vocal cord specialist who found atrophy, paresis, and a lack of gag reflex, so she got me in for an EMG of my vocal cords which turned out to be diagnostic for MND.
About the same time, the rheumatologists in my life decided that Sjögren's Syndrome (the prime autoimmune suspect) was not the cause. Not only because I had normal antibody blood test results (run and re-run probably more than 6 times!) and a salivary gland biopsy that was not diagnostic for it either; the primary reason I did not have Sjögren's, was that if it were so extreme a case for it to have infiltrated my nervous system, then the typical problems created by Sjögren's would have been more severe first. What I did not have is dry nose, nor elsewhere that a female would be affected. All I really had that would point to this condition was dry eye and mouth, (and cranial nerve #7 happens to be responsible for these,however, its not the motor function of this nerve), Plus, of course, a biggie, I didn't respond at all to medication.
Therefore I "got" to quit bouncing back and forth between rheumatology and neurology, and neurology claimed me for their own.
A follow up EMG also was positive for PBP, although my limbs were normal. I was given a diagnosis of PBP. At the time I did not have any real limb involvement.
In the months following this diagnosis I developed areas of weakness in my limbs, some fasciculations, mostly in the legs, not big ones, but they never completely stop either, We assumed that my PBP was actually the onset of ALS and I went over a year with no more EMGs.
For a few months starting around this time last year, I had bouts of gastro-paresis, which is not typical of MND.
This summer my neuro told me that the manner in which I continued to progress was just not what she normally sees in her patients who have ALS,and she would probably want to re-run a few tests after she'd conferred with her colleagues. So a month or so ago she decided to re-run labs (for MG), They came back normal again.
Re checked CK; still elevated.
I had a LP last week (had never had one as I didn't have symptoms earlier in the diagnostic process where this would have been considered necessary) It came back normal.
I also had a repeat EMG of my limbs, and IT was normal! The neurologist who does the single fiber emgs was present at the time, and, after the limb regular EMG was complete, he did another SFEMG, and it was still abnormal, but he said it could not distinguish between ALS and MG. My NCV results were normal, as was the repetitive NCV. They were exactly the same as they had been when I had them done the previous year.
Yesterday I saw my neurologist. Her exam found my reflexes have not particularly changed. They are hyper in my arms, and I believe its just one part of one leg, but other parts of the legs are normal. I have jaw jerk, and crossed adductor reflex (whatever that is ) at the knees.
I told her about how I'd discovered I could not smell (detect odor of) chlorine. That, taken with the still atypical progression in each "zone" makes her feel that she is not comfortable with a definite ALS diagnosis. She said I definitely have progressive bulbar palsy in that I have progressive weakness in that area, and I have evidence of motor neuron damage. I meet the clinical exam as well as testing criteria for PBP. BUT the fact that my EMG of my leg and arm was still normal, yet I have clinical weakness does just not add up. Especially when including all of my other non-motor problems. She said to be clear, she is not saying its not ALS, but due to the unusual progression she questioned it.
She is concerned because my respiratory function continues to worsen.
The only thing we have not tried for treatment is the Mestinon, and she wants me to take it 3X day to see what happens. She does not think it is MG, and said if I do, it is the most unusual case shes ever seen or heard of. (so far, after two doses of it, all it has done is make the fasciculations in my tongue more intense, and makes me slur worse. at least I think its the meds!)
She said there is nothing left to rule out, (and after the Mestinon) no more treatment attempts or tests. She said we could repeat more brain MRI's, but the brain scan would not explain the leg and arm involvement. She is bringing my case back up in the next staff meeting for further input from her peers.
...so WTF (sorry, but really!) instead of ALS I maybe have a nameless disease, for which there are no more tests to discover it, that is not demyelinating, is not inflammatory, and is destroying both my motor nerve function and other nerve functions, and causing skeletal along with smooth muscle weakness.
Don't get me wrong, its not like I have a fast progression, I think that is part puzzle that does not fit, its almost like a shotgun effect instead of a couple of well aimed bullets.
PS, CT scans of chest showed no thymoma, but I have nodules in my lungs (3? I think) which are small enough to where even though the doctors always bring them up, they say they're nothing to worry about, too small to warrant a biopsy.
A quick history:
Although I had bulbar (mostly voice, followed by swallowing) weakness, and some breathing issues in the beginning of my diagnostic voyage, at first I spent a good while stuck in the rheumatology category of diagnostics, because, along with the above mentioned problems, I also had dry eye and dry mouth. Additionally, somewhere along the way I noticed I had lost a good part of my sense of taste. After many months of immunosuppressants (plaquenil and methotrexate, restasis for the dry eye) plus prednisone,, I finally made it to a vocal cord specialist who found atrophy, paresis, and a lack of gag reflex, so she got me in for an EMG of my vocal cords which turned out to be diagnostic for MND.
About the same time, the rheumatologists in my life decided that Sjögren's Syndrome (the prime autoimmune suspect) was not the cause. Not only because I had normal antibody blood test results (run and re-run probably more than 6 times!) and a salivary gland biopsy that was not diagnostic for it either; the primary reason I did not have Sjögren's, was that if it were so extreme a case for it to have infiltrated my nervous system, then the typical problems created by Sjögren's would have been more severe first. What I did not have is dry nose, nor elsewhere that a female would be affected. All I really had that would point to this condition was dry eye and mouth, (and cranial nerve #7 happens to be responsible for these,however, its not the motor function of this nerve), Plus, of course, a biggie, I didn't respond at all to medication.
Therefore I "got" to quit bouncing back and forth between rheumatology and neurology, and neurology claimed me for their own.
A follow up EMG also was positive for PBP, although my limbs were normal. I was given a diagnosis of PBP. At the time I did not have any real limb involvement.
In the months following this diagnosis I developed areas of weakness in my limbs, some fasciculations, mostly in the legs, not big ones, but they never completely stop either, We assumed that my PBP was actually the onset of ALS and I went over a year with no more EMGs.
For a few months starting around this time last year, I had bouts of gastro-paresis, which is not typical of MND.
This summer my neuro told me that the manner in which I continued to progress was just not what she normally sees in her patients who have ALS,and she would probably want to re-run a few tests after she'd conferred with her colleagues. So a month or so ago she decided to re-run labs (for MG), They came back normal again.
Re checked CK; still elevated.
I had a LP last week (had never had one as I didn't have symptoms earlier in the diagnostic process where this would have been considered necessary) It came back normal.
I also had a repeat EMG of my limbs, and IT was normal! The neurologist who does the single fiber emgs was present at the time, and, after the limb regular EMG was complete, he did another SFEMG, and it was still abnormal, but he said it could not distinguish between ALS and MG. My NCV results were normal, as was the repetitive NCV. They were exactly the same as they had been when I had them done the previous year.
Yesterday I saw my neurologist. Her exam found my reflexes have not particularly changed. They are hyper in my arms, and I believe its just one part of one leg, but other parts of the legs are normal. I have jaw jerk, and crossed adductor reflex (whatever that is ) at the knees.
I told her about how I'd discovered I could not smell (detect odor of) chlorine. That, taken with the still atypical progression in each "zone" makes her feel that she is not comfortable with a definite ALS diagnosis. She said I definitely have progressive bulbar palsy in that I have progressive weakness in that area, and I have evidence of motor neuron damage. I meet the clinical exam as well as testing criteria for PBP. BUT the fact that my EMG of my leg and arm was still normal, yet I have clinical weakness does just not add up. Especially when including all of my other non-motor problems. She said to be clear, she is not saying its not ALS, but due to the unusual progression she questioned it.
She is concerned because my respiratory function continues to worsen.
The only thing we have not tried for treatment is the Mestinon, and she wants me to take it 3X day to see what happens. She does not think it is MG, and said if I do, it is the most unusual case shes ever seen or heard of. (so far, after two doses of it, all it has done is make the fasciculations in my tongue more intense, and makes me slur worse. at least I think its the meds!)
She said there is nothing left to rule out, (and after the Mestinon) no more treatment attempts or tests. She said we could repeat more brain MRI's, but the brain scan would not explain the leg and arm involvement. She is bringing my case back up in the next staff meeting for further input from her peers.
...so WTF (sorry, but really!) instead of ALS I maybe have a nameless disease, for which there are no more tests to discover it, that is not demyelinating, is not inflammatory, and is destroying both my motor nerve function and other nerve functions, and causing skeletal along with smooth muscle weakness.
Don't get me wrong, its not like I have a fast progression, I think that is part puzzle that does not fit, its almost like a shotgun effect instead of a couple of well aimed bullets.
PS, CT scans of chest showed no thymoma, but I have nodules in my lungs (3? I think) which are small enough to where even though the doctors always bring them up, they say they're nothing to worry about, too small to warrant a biopsy.
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