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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.
 
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Wow, Rose, that is certainly a complicated and confusing picture. At first it reads like a good news/bad news joke: the good news is that maybe you don't have ALS. The bad news is whatever you have is just as bad. But actually, I think it could be really good news. If it's not ALS, then maybe the progression does not have to continue. Maybe it will plateau and stop.

The most puzzling part to me is how you can have a normal EMG with an abnormal SFEMG. I don't know the difference between those tests. With the normal EMG and LP then I think that would suggest your lower motor neurons are doing OK. That would be a very good sign. If your LMNs hold up then your prognosis is much better.

Here's hoping that this is good news and your progression plateaus! You are such a bright spot here that I hope this means you will be around for a long time to come.
 
Thanks Hal,

I don't understand the difference between the EMG and SFEMG either, only that the single fiber is more sensitive. It would be great if it could distinguish between the MG and ALS. (and it can't). But, does that mean I have to either have one or the other? I just don't get it, but I guess not. My breathing was down to 62%, which isn't awful in the big scope of things, but certainly makes me wish you are be correct that maybe things could just halt where they are somehow.

It truly makes me feel so alone, the doctor and I were both practically in tears yesterday, Well, actually I was crying, and she had them welling up in her eyes repeatedly. Don is away on a trip working, the neuro appt had been changed at the last minute so he couldn't be there. Last night he said we'd just have to take a couple of days to adjust to the latest and greatest, and then we'd go on like we have been until we learn more.

Oh, and I asked her about my positive (regular) EMG of vocal cords and tongue, and she said that both of those regions could be unreliable, that the test was only as good as the person performing it. Obviously someone with PBP would need to rely on those results, but that didn't change the risk in using only them for diagnosis. ... My lack of gag reflex indicates LMN too, but maybe that's the only area?
 
Oh My Gawd Rose.

Thats a terrible amount of testing to still be waiting for a diagnosed.

For now , I am glad that it is not positively ALS. This means we will be graced with your presence in the future.

Big Hug (cuz you need one)

Glen
 
Rose,

Yes, it is confusing and I wouldn't know what to think either. How high is your CK?
I believe the crossed adductor reflex at the knee is when they hit one knee the other leg moves.
 
Crystal, I don't know the exact result of latest CK, she just said it continued to be elevated above normal.

Its pretty twisted that this has me upset, as who wants to keep such an awful diagnosis. Of course if she'd offered me the hope of treatment it would make a world of difference. I'd be throwing a party.

Glen, thank you for the hug (I felt it, really I did!) She told me the diagnosed given last year of PBP stands for the time being, but I really think that's because there's nothing else to call it.
 
wow! i don't know what to say...that was an insane appointment.....i am cheering for a diagnosis reversal.....go rose!...let those doctors go hunt down something else. something they can fix, for goodness sake
 
I don't know if I should cry or cheer?! For me, it is always the unknown that is so awful. I hope and pray that it is something else and moves slowly and that there is a cure!
 
I'm relatively new here, but just wanted to let you know my heart goes out to you with all this unkown. It's a very frustrating process to have no answers.

Peace to you,
 
Thank you ladies! Yes, it is confusing, I don't know if I was offered a "gift" or not. My neuro didn't seem happy though, so I'm thinking its more along the line of what Hal said, good news bad news joke. But if its not ALS for certain, then maybe it doesn't have to keep progressing for certain either.

My son went out and picked up my Mestinon last night, in order for me to start it asap, so I know my family is still hoping something is going to work. Its good to know everyone wants me around :)

Melody,
Welcome to the forum! I am from Miami originally myself.
 
Rose, I think it's a great news. I can't wait to hear from you that mesitonin works and you are getting better. Hugs,Hugs and more hugs, Erica
 
Rose,
You know I have three nodules in my lungs, and they always mentioned just like yours. I suffer from slow gastric emptying also. I think that we sound a lot alike. Maybe I should head to John Hopkins so they can study my similarities with yours. Maybe we have something totally different. Uggh.. Remember Shatzie? she had her diagnosed. changed to MG and is doing much better. I sure hope the mesotonin works.
 
Geez, Rose- are you kidding me? (AKA- WTF)
 
Hi Rose,

I read your post with care, as I always thought that your progression was relatively slow.I truly do hope Mestinon changes things for you, and that your FVC stabilises or even improves. I have come across somebody on a different forum who has been given many different diagnosis over the years (ALS was one of them), only to be told about 20 years later that none of them stand, and that they do not really know or have a name for his illness.

Keep us posted.

All the best, Dani
 
Holy cow rose! Don't really have a lot of words except you've got a lot of prayer and support from me (and I can normally be counted on for a chuckle or two because, well, I'm pretty much a redneck from Jawja).

You sounded a little down in the post, expectedly so, but I've always sensed you are very strong. In a few days you'll recover from the gut punch to your normal self I'm sure. Stay strong.

Speaking of happy...

I was at WalMart yesterday and bumped into a midget with my cart and knocked him down. I ran around and apologized and asked him if he was OK. He glared and said "Yes, but I am NOT happy!" And I asked "Well, which one are you?" That's when the fight started.:lol:
 
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