View Full Version : my neuro appointment
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.
halfin
11-24-2009, 12:14 PM
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?
GlenBrittle
11-24-2009, 12:51 PM
Oh My Gawd Rose.
Thats a terrible amount of testing to still be waiting for a dx.
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
crystalkk
11-24-2009, 12:53 PM
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 dx given last year of PBP stands for the time being, but I really think that's because there's nothing else to call it.
paleshia
11-24-2009, 01:32 PM
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
indigosd
11-24-2009, 02:02 PM
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!!
Twinsmom
11-24-2009, 03:42 PM
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.
Erica
11-24-2009, 05:16 PM
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
hopingforcure
11-24-2009, 06:00 PM
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 dx. changed to MG and is doing much better. I sure hope the mesotonin works.
Geez, Rose- are you kidding me??? (AKA- WTF)
Danijela
11-25-2009, 05:00 AM
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:
thelma313
11-25-2009, 08:45 AM
Rose, I'm sending you another hug.
I don't even know what to say to all this testing you have had to endure except that I admire you so much for not being a basket case which is what I would have turned into by now. Wow, I am relieved that you don't have a definite ALS dx but I feel your frustration at not having anything definitive yet. You sure are a force to be reckoned with aren't you?
Hang in there, Rose. You know you have the whole team rooting for you!
Rosella
Thank you one and all for the support. I am better today. And, like I'd said before, obviously I would love to escape ALS if at all possible, but after living with the diagnosis for over a year, and my entire family making major changes in their living situations with the expectation of what was to come, it was more distressing than you would think to get thrown back into the unknown again, and yet at the same time to not to be told by my doctor that it was great news!
My neurologist said she did not want to give me false hope, that at the end of the day (figuratively) we may very well be back to ALS again. It was kind of funny (ha ha funny) She had told me not to expect the Mestinon to help, and if it did, it could take two or three weeks to notice anything. So, yesterday I emailed her to tell her how much it has increased my fasciculations, mainly in my tongue, but also my face, legs and pretty much everywhere. She fired an email right back at me asking if I'd noticed any improvement yet! (no) Now I'm wondering how fast a person with MG really would see positive changes... does anyone know?
When I was waiting for the latest EMG testing to be done, I could hear the doctor talking to another patient and her entourage. She apparently did not speak English, and the family had come to Hopkins from another country for a second opinion. The woman had been told she had ALS previously. Her test results at Hopkins had convinced the doctors that she absolutely had MG instead of ALS.
Her interpreter was telling the docs how this was the best bad news they'd ever received, and he was explaining the route of treatment for it, etc. So, I'm sitting there, all ready to be given the same reversal of diagnosis when he came in to talk to me. I already (in my mind) had myself back at work, wondering how many company credits I had in my account to order new uniform pieces with (I am/was a flight attendant) I was already trying to figure out if I wanted to try to commute in by air to get to the airport I am based out of, or if I'd need to move back up there.... then he tells me, yes it was abnormal, but no, they could not distinguish between MG and ALS. So I asked him about the other patient I'd overheard him talking to, why could they tell with her, and he explained that her repetitive NCV was typical for someone with MG, along with other test results. (Obviously he couldn't really discuss another persons medical information).
A note to those who read this and wonder how a diagnosis of ALS could possibly be retracted, I need to stress that I was in the "probable" category for ALS, I only had confirmed PBP. When I started to have limb involvement, it was just assumed that I in fact had bulbar onset of ALS, and no further testing was done for many months.
joelc
11-25-2009, 11:59 AM
I really hope they conclude you have MG and not ALS. Wouldn't that be wonderful!
BethU
11-25-2009, 01:32 PM
Rose ... here's hoping and praying it's not ALS. Man, you have been through the mill!
I experienced increased twitching and fasics with Mestinon, too. Don't be discouraged if you don't get immediate results, because it could be a dosage issue. Sometimes it takes a lot of adjusting to get the correct dose (I've read that on Google, so take it for what it's worth). If it's the right dose, the results should happen quickly. I understand it's like aspirin ... it treats symptoms quickly, but the effects only last for a few hours. But I've read also that an overdose has the same effects as not taking it at all ... that is, no change in symptoms. So usually they start low and increase the dosage until they find it working.
This is a great support group ... the MG Assoc. of the UK. Lots of good information and good people there.
http://www.mgauk.org/
Being in limbo is hell on wheels, but as long as there is hope, hang on to it!
BarryG
11-25-2009, 02:09 PM
Rose, I am hoping that you are flying again soon. You are still the "model" patient even if no one is sure what you are a patient of. Let us know what they decide. Good luck.
handinhand
11-25-2009, 03:36 PM
Rose, so sorry for the latest appointments and all those tests. I will keep my fingers crossed that is isn't ALS and what ever it is keeps going very slowly or stops. You are always a trooper I hate to hear in your posts that you are down.... Thinking about you and hoping for the best. Hugs, Linda
brooksea
11-25-2009, 03:52 PM
Gosh Rose! Hope the Mestinon really works for you! You really got to me when you talked about looking forward to getting new uniform pieces! Hang in there as best you can...
Zaphoon
11-25-2009, 04:12 PM
Rose,
I'm stymied by all of this and do not know what to say other than hang in there! Sooner or later the picture has to become more clear to the examining doctors.
PLS can effect bulbar as well as limb regions and usually progresses slowly. Let's hope the mestinon works its magic and proves the MG idea correct.
Zaphoon
KeeKer
11-25-2009, 06:06 PM
Rose, you have my fingers crossed for you! Hoping it is MG and you will get better! Can't imagine what you are going through. Must be an emotional up and down. Let us know how it goes.
Colleen
Thanks,
I think I'm back to my old self again ;)
One thing I've been thinking about, is how statistically, those with ALS who take longer to diagnose have a slower progression. So, either way, this is a good sign.
I asked my neuro if my dry mouth could be the "flip side" to excess salivation, and she insists that ALS does not actually cause excessive salivation, but rather that drooling increases as the muscles involved in swallowing become progressively affected. That these are "voluntary" muscles, even if we don't consciously think about them when we use them. So, I am thankful for my dry mouth, because, now that the cold weather has set in, when my nose runs from the cold (not to be gross) but I can't sniff in hard enough this year to keep it from dripping, and can't blow it all that effectively either. I'm happy I'm not dealing with the saliva at the same time.
Kim, I've thought of PLS, but I do have documented LMN damage in the bulbar area, which no one is questioning. I'm also not very spastic, so, ??? I did ask Dr Google about neuro related loss of smell, and Parkinson's came up. There's no way I have that though, so I guess he's not going to be any help to me.
CJ, you understand perfectly, don't you! In the span of probably only 10 minutes, while waiting to talk with the SFEMG neuro, I had myself convinced I was going to get the same news as the other patient.
Barry, I got your little joke, and thanks for it 8) One of the all time funny (I'm sure meant to be suave) questions asked me, was at the beginning of a working trip by the captain. I'd gone up to the cockpit to introduce myself, and he looks at me and with a completely straight face asks "Why ever did you give up modeling for this?"
Linda, Colleen, Joel and Beth, the support I find here makes all the difference.
BarryG
11-27-2009, 11:49 AM
"Why ever did you give up modeling for this?"
Rose, I get that asked that all the time! :rolleyes::rolleyes:
Ah, the excess saliva. I am glad that you brought that up because I was just thinking about it this morning. I had to get up twice last night to wash the goo out of my mouth. I usually have a very dry mouth and a very wet pillow in the morning from having my mouth open to breath but last night for some reason I was able to close my mouth and breath through my nose. This was not a conscious thing because right now I cant close my lips at all but last night in my sleep they were closed. And I was choking and gagging on thick gooey saliva. After the second trip to the sink I made a conscious effort to keep my mouth open and slept right through until 9 and the woke up with the usual dry mouth/wet pillow. I am not looking forward to whenever I need a bipap while sleeping as this will be more of an issue then and I do love to sleep and have never had any sleep problems.
I am glad you are back to your old self and continue to be reaaaaallllllyyyy slooooooowwww progression (the same goes for everyone else too).
Barry, before my doctors understood we were dealing with bulbar weakness, my rheumatologist prescribed a med to increase salivation. It was supposed to be taken 3X day, I took one, and the saliva kept pooling in my mouth, but I didn't think that much about it. I took the second one relatively near to bedtime, and what an awful night that was! Thankfully it was just me in bed that night. Everything was soaked. I kept choking, it was truly terrible. I never took another dose.
Now that I use bipap I do get that thick gunk at the back of my mouth when I wake in the morning, but its well worth being able to breathe so well.
peter57
11-27-2009, 04:00 PM
Gosh Rose what a trip you are having.
I hope, like others here that it ends up not being ALS but somthing else. (cureable)
What ever it ends up being i hope it is so slowwwwwwww that you are around for a longggggggg time for your family and this extended family here.
We would be lost if we couldnt drag up the "nurse" in the follies in the years to come :)
Cheers
Peter
lydia
11-27-2009, 05:34 PM
Hi Rose,
I just saw this thread and am glad that you have come to grips (a little) with this maddening uncertainty. I think you are right to focus on that notion of "the longer the dx, the slower the progression" for whatever is going on. I really feel for you, Rose, and wish you the strength to deal with this. Thank goodness whatever it is is slow moving.
Lydia
handinhand
11-29-2009, 08:49 PM
Rose, I am so glad that you are feeling better. L
hopingforcure
11-29-2009, 09:22 PM
Hi Rose, wanted to say hope you are feeling better. Spasicity is UMN symptom. I think the long dx. thing is definitely as good as a sign as any..:razz::razz::razz:
Ratman55
11-30-2009, 06:01 AM
Rose:
Following the thread; a part of the often "invisable" network of love and support. Please feel all the positive energy coming your way. Your attitude strengthens me so.
JK
abbas child
12-12-2009, 10:57 AM
Rose, Your lack of diagnosis after so much time, testing, time, testing, must be so hard to deal with. As much as I pray your true illness is going to be treatable or will plateau, I think in your shoes, I'd rather just "know" and get on with acceptance. You are so special... even your Neurologist cries for you. How many of us see that??? You're in my prayers.
Ann
I am always amazed and grateful for the outpouring of warmth from this forum! Thank you, each and every one of you who have taken the time to respond, as well as those who don't write, but still keep me in your thoughts.
Its been a couple of days short of 3 weeks since starting the Mestinon. It has not given me any improvement whatsoever. My speech is worse, but I swear that could be from the crazy tongue twitching due to the Mestinon. I tell you what, combining the first dose of the day with a couple of cups of espresso, and I'm a MESS! Even around my eyes twitch so much that I can hardly focus to read something.
I don't know where this leaves me, probably in the same place I was anyway, as my neuro had warned me that she did not expect the med to make a difference.
I have my regular ALS clinic on the 22nd, so right now I'm concentrating on trying to keep from losing more weight until then. I was supposed to have had another swallow study and appt with my pulmonologist, but these had been scheduled for the same date as my daughter had surgery (what are the odds, right?) so I never got around to rescheduling them. Even if my diagnosis remains up in the air for the time being, maybe I'll get some usable information from my evaluation at the clinic.
KeeKer
12-12-2009, 12:28 PM
Rose, I hope that you get some good news for Christmas. Keeping my fingers crossed for you.
Colleen
irismarie
01-09-2010, 07:55 AM
Dear Rose....sending lots and lots of love.
I am getting more and more anti hospitals and doctors by the day. They have really mucked you about
I can smell chlorine again! And I think the mystery is solved. A friend of the family had visited, and left behind what I thought was a bottle of vitamin E. So, when I ran out of mine I started taking it. It turns out it was not vitamin E, but rather some kelp or seaweed supplement (wondered why the capsules were so dark) The thing is, I (intentionally) take a supplement called "Beyond Omega 3" which is a fish oil supplement which also contains kelp. I think I O.D'd on iodine (??) About a week after I finished the vitamin E (which was wasn't), I noticed when spraying the bottom of the shower curtain with anti-mildew stuff that I could SMELL it! So then I started telling everyone around here, and that is how it came out about the vitamin E not being vitamin E. I'm still not sure what it was, don't have the name of it. There is a lesson to be learned here somewhere.... I just hope this really was the cause.
I've not told my neuro yet. Her notes from my last appt with her came in the mail recently, and in them she stated that her main reason for questioning the validity of my dx of ALS was that my upper motor neuron abnormalities puzzlingly have not continued to evolve as expected. That, in fact, some UMN signs if anything are improved, although she then notes that this is a subjective judgment on her part. She stated that all progression which she can assess clinically has been LMN. She didn't mention the lack of sense of smell in her notes at all, although during my appt she was interested. In the notes she talked about my abnormal SFEMG. She says: The study was abnormal which raises the possibility of a neuromuscular junction abnormality, which might be seen in myasthenia or in motor neuron disease. She has had testing for myasthenia in the past including negative acetylcholine receptor antibody and anti-MuSK antibody testing. She has also been on a course of immune modulation therapy in the past without any improvement in her symptoms. Nevertheless, given this EMG result, we gave her a trial of Mestinon 6mg three times a day to see if it improved her symptoms. [Addendum:] Ms. S______ notified me that after 3 weeks of mestionon 6 mg po tid, her fasciculations increased, and if anything her speech worsened. I have instructed her to stop mestinon and will see the patient in 6 months. She will be continued to be followed in ALS clinic.
thelma313
01-12-2010, 08:30 AM
Rose, you are always in my thoughts. I'm sending hugs and hope...
xo
indigosd
01-12-2010, 10:52 AM
Sitting here with fragrant Rose scented HOPE! xo Kay Marie
KeeKer
01-12-2010, 03:17 PM
So....is it good news or bad? Sorry can't figure it out.
Twinsmom
01-12-2010, 03:50 PM
Dear Rose,
You continue to be in my prayers.
Peace,
Melody
abbas child
01-12-2010, 04:10 PM
Dear Rose,
I'm glad your sense of smell has returned and at least THAT symptom is resolved in the best of ways. My understanding of your neuro's notes is that she still doesn't know what your diagnosis is... am I right? You're in my prayers.
Ann
Thanks everyone :)
I guess its good news, (in that a mystery was solved) if the extra supplements were the cause of my inability to smell the chlorine. When I noticed I could smell it again, this was the only thing I could think of that had changed in my lifestyle, I was wondering aloud if vitamin E could affect sense of smell, and that is when it came out that it wasn't the E but some sort of Kelp, I actually have not read anywhere that too much iodine can suppress ability to smell certain substances, so its conjecture on my part.
I'm curious if anyone had feedback to offer about the seaweed/kelp/iodine angle.
About my neuro's notes, they are what they are. I don't think any conclusions are to be made at this time. I think the dx is not reversed, but certainly not re-dx either. (is this like the un-dead? am I the zombie of MND Land??? )
I guess part of what she was saying is that my UMN findings are not changing much from what she can tell, and yet there is evidence of LMN progression. From what I've been able to learn, if it was a motor neuronopathy, like CIDP, not only should I have had improvement from all of the immune therapy drugs I took, but my reflexes should be diminished. My gag reflex is absent, cough reflex diminished, but these are not tendon reflexes anyway. Deep tendon reflexes are brisk, most +3 in my upper body, and I have jaw jerk. Slow finger and toe tap. However, legs are +2 and +3. Plantar reflex my toes are mute, no response at all. She and other neurologists have said this can be a normal response under certain circumstances, but that mine is not interpreted to be normal, additionally, I have a crossed adductor response.
I copied her words about the SFEMG verbatim, it sounds to me like the same thing she (and other neuros) have said to me in person, that I don't have MG. But her notes don't say that if it isn't MG it HAS to be ALS, just that the abnormalities would be seen in ALS.
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