Back again- need unbiased opinions

[puzzled36]

Hi everyone. I have been on and off this forum for over a year. My journey began almost 2 yrs ago. At the time I was 35 active, unstoppable, full time charge nurse in busy ER, student, mom of 3, wife to the greatest guy ever. Started getting headaches which I chalked up to working nights and sleeping never then noticed proximal arms felt half asleep, couldnt lay on them and started having trouble with dry swallow occured over 3-4 months. then noticed I was substituting easier words because I had a hard time getting my tongue to cooperate at times. then difficulty swallowing certain textures (ie rice, corn) stayed in the back of my throat. also cramping in my throat, twitches everywhere. went to doc had the work up. everyone concentrating on a benign hypothalmic thing I've had for years, found after a fall yrs ago. finally to a neuromuscular doc. normal emg/nvc. hyperreflexic, +hoffmans, +jaw jerk. abnormal swallow (weakness at tongue base) biopsy excess fiber size variation and general atrophy. repeat emg, negative. meanwhile speech is now 80% losing a little volume occasionally not really slurred just indistinct consonants and trouble with parts of words where your tongue needs to go to the roof of your mouth. labs ANA 1:160 speckled, rheumatoid factor 100, polyreactive IgM antibodies (which were initially negative when first tested) negative for all the paraneoplastics and rheumy diseases. had single fiber EMG of face abnormal (too many couplets) but no response to MG meds and started to atrophy. now have atrophy to chin, feet, hands. pain in joints, feet, hands, wrist, knees. total of 5 EMG's everything neg. except for single fiber. also abnormal sweat test (feet and head wont sweat) and also have incomplete bladder emptying and urgency. Also fall to left on Romberg. I can still pass all the tests but am no where near as strong as I used to be. putting away dishes, washing my hair, steps all wear me out. one of the leading ALS specialist in the country is my MD for last year and he says i dont have it, doesnt know what it is. he said over 20% of pts that come to neuros have something going on and are never diagnosed.

I am grateful I can still do everything but know I'm still headed down hill. I have no clonus, went from negative babinski to no response which he said is considered within normal. Can still swallow and just avoid those things that are hard. Can still speak pretty clearly but avoid multisyllabic words. he said the atrophy could be from disuse..I run an ER that sees 90,000 pts a year, at the time I worked out twice a week, went to school, raised kids and rehabbed houses in my 'spare' time. Im not sedentary. says the reflexes are related to being young and thin.? My question is has anybody been down this long road? normal EMG's but everthing else pointing to ALS or multi system atrophy? I'm tired of trying to search out a diagnosed but feel I need to persue in case there is a treatment. he said no IVIG without a diagnosed. Anybody have any thoughts, I feel like I'm barely holding it together.

gina

 

[brendapals]

Gina,

My heart goes out to you. Sounds like you've had a lot going on, but you still have to hold it together. I am also a nurse, worked in a busy ER for about 3 yrs, now ultimately I'm working in a rheumy office 4 days a week starting a lot of IV's.

I don't know what to think about the 5 emg's, except, wow, what a woman! I had one, back in may of 2007, the neuro told me I had possible mild carpal tunnel and might benefit from physical therapy. I never had physical therapy, no time for that.

That same neuro relayed thru his nurse in April this year when I called, because of my speech being sooooooo deliberate and slurry, to 'restart Klonopin and go to the ER if your speech gets worse". Now you tell me, how many folks come in the ER with a progressive, non-acute slurring of speech?

I was diagnosed with ALS on 6/3/08, nothing is much different with me physically, thank God, but I don't know what the future may bring.

Laugh often, talk to your md on Monday, do something stress relieving for yourself, and if that means getting off this forum for a while, then do it. You will find much support and friendship and knowledge here, and we all welcome you, but try to rest a little.

Keep the faith,
brenda

 

[awieleba]

Oh Gina!

WOW, can I relate. I have 3 awesome kids and a wonderful hubby too. I was also soooooo acitive and just entering my "athletic phase" in life. Then I got pregant and had baby in nov. and get sick in jan. and it has been downhill ever since! I dont have any speach or swallowing issue, I feel like I have a hard time pronouncing sometime but my family says no strange sounding. But I have thinning muscle in face and hands and feet and leg but clean emg's also. My chin has always been a little pointy but sisters said it is alot thinner and pointey. I noticed while in the hosp with my 3rd that my face was alot thinner then it should. When you just have a baby, you are puffy and fat! When I got my photo back I noticed that my face was very thin (check out my album, you can see for your self. I gained less weight with my 2nd son and my face was puffy). All my muscles have been thinning out. I had horrible pain (arthritis) in my hand,feet, knees ankles...just like you. I had a mild +ana speckled patterern also. Your RF being 100 is slightly elevated, I am sure that you know. MIne was only 10, I thought anything over 10 was +?

I fall to left when I close my eyes, that is my weak side. I have brisk reflexes and my doc said same thing, you are young and thin and stressed that can cauese it. Yea right, I have been thinner and younger and waaaay more stressed! She said my muscle's were that way from dis-use....OK, I have 3 kids under 6 and I am going even when I am doing nothing. months before this I working out and playing tennis 4x a week! That is lame. You just dont lose muscle like this, I have been more sedentary in my life prior to kids. My mom who does 1/4 of what I do has more muscle mass than me!

Hey what is a jaw jerk again?
Do you have twitching?

I really wish you the best. I feel the same as you that I feel lucky that I can function for my family. I feel I am also on a downhill slope, I hope it is a 20yr slope at least! But I worry....when I am upset that I cant play tennis, I look at the kids faces and that makes me happy and nervous!


Take care, I got to put the kids to bed and my sister over.

april

 

[planningguy]

Jaw jerk is used to describe the reflex that occurs when the lower jaw is struck below the lips while the mouth is slightly open. With an abnormal response the person's lower jaw will jump significantly when tapped.

From what I understand it's one of the harder ones to call as, like most reflexes, there is some question about what exactly the normal range is. Without correlating to other symptoms, a person could have a slight jerk and be just fine.

Robert

 

[planningguy]

The only video demonstration of jaw jerk I could find is here:

http://library.med.utah.edu/neurologicexam/html/cranialnerve_abnormal.html#23

It is listed under the 5th Cranial Nerve video. Unfortunately, it is on the last third of the video (its a test with a young man in glasses), and is a very short demonstration. Incidently I've found this U of U site to be really helpful in understanding what my neuro is looking for in clinical exams. There are sets of video for both "normal" and "abnormal" examples as well as some informational sections under the "Anatomy" section of each set.

Robert

 

[awieleba]

Thank you Robert!

My Jaw does not move at all when that is done so I guess one good thing. *In my post I said that I fall to the left, I ment sway to the left. I have never fallen over to left when doing the standing still with eyes closed.

Take care, and I am impressed that twitching does not concern you. It feaks me out more than weakness or anything. It is like I am being taunted by my body.......

I finally figured out the pixel thing. The avatar I have is not the one I wanted but I cant figure out how to put updated photos on there. Grace's cheecks are not as chubby these days!

april

 

[happy]

Gina, from everything that I have learned here your emg should have shown something..especially since you've had five. I would imagine that in one of those there would have been some denervation which is one of the keys in diagnosing lou gerhigs. Stress will definetly make things worse. I have seen first hand how weak and twitichy i become when I am stressed. I too work in an inner city ER here in Sacramento. Sometimes the busy pace is good for me, in that it keeps my mind really busy, but then there are those incredibly sad days that cause me undue stress. I bring it home with me. I am in super hyper fast mode because of the acuity level of pts and we are constantly on diversion. Do you have twitiching and atrophy? Do you feel like you are going to lose balance when you walk? I hope that you get the answers you seek.

Robin

 

[wright]

Wow, that is quite a list of symptoms. You might have a multitude of things happening . . . but they sure don't sound like ALS.

It sure looks like from your labs that you could have some type of autoimmune syndrome, causing a peripheral neuropathy. Peripheral neuropathies aren't just relegated to motor and sensory nerves; they can also affect autonomic nerves and your lack of sweating could certainly point to that. Most people don't realize that peripheral neuropathy can affect bulbar muscles, too . . . and you have bulbar symptoms.

You being a nurse probably know how much influence the hypothalamus has. Certainly having problems with it could cause all kinds of symptoms, many of which you describe.

Your joint pain could point to Lyme . . . and Lyme can affect every system in your body. Have you been tested?

Vasculitis could also cause many of the symptoms you are describing.

There is another condition called multiple system atrophy that some of your symptoms match (the lack of sweating and urinary retention are what stand out). Have they done an EMG on your external anal sphincter muscle? That muscle (unllike with ALS) is affected with multiple system atrophy. Given the other symptoms you have though . . . and the fact that it is rare, it probably would be very low on the list.


Questions for you:

You say you have had 5 EMG's . . . were they thorough? Did they show any type of chronic denervation without active denervation? That would point to peripheral neuropathy. What about myopathic changes on the EMG . . . are there any?

How profound is your atophy? Did it develop quickly or has it taken some time to become evident.

Do you have a lot of muscle weakness? How about twitching?


It sounds like you're in good hands with your physicians, so please keep us informed as to what they find. I wish you the best and hope you get answers soon.

 

[olly]

hi

my balance is terrible and my co-ordination.
i always fall to the right and when walking if i don't look straight ahead but look to either side i veer off to the right. i have fallen into the road a few times.
i completely failed on the finger to nose tests,standing with my eyes shut and can not take one step without going over in the heel to toe test.
this is one of the reasons why they did suspect cerebella/multi system atrophy.
when my jaw spasms are bad i only need to open my mouth slightly(due to the spasms and stiffness i can not open my mouth as much as i should normally)my lower jaw/chin starts quivering like mad.
april............i loved the pic's of your family,i think your great.
your personality matches your name...............i ray of sunshine on a spring day.
take good care.
caroline:-D

 

[puzzled36]

Thanks for the replys. I do have atrophy noted on my paperwork as interosseus and ?thenar. I have a weird dent, rather large, in my chin and my hands and feet have thinned quite a bit over time with all my fingertips now flat and sunken in with that soaked in water look. Lots of bone and joint pain. I do have twitching, it started about 3 months in to all this after my first EMG. first EMG just on one arm, one just on face, three full body lasting 20-40 minutes. 3 done by the ALS specialist. It has all been slow, insidious. I too have thought about MSA, no they havent done the rectal schincter EMG - surely there has to be another way ! I am concerned for that as I read that polyreactive IgM antibodies are seen in ALS and MSA. Of the two guess I'ld pick MSA but would rather not be looking at either. I'm sure you all know how I feel. Just becoming so depressed from not knowing and from trying to keep up with my old way of life and beginning to fail I hope that you are right, Wright. I really need this to be a peripheral neuropathy. one of my emgs note increased insertional activity, no fascs, no pos. sharp waves. I had one rare lymphocytic or something cell noted on my muscle biopsy, but not enough to say inflammation. just shows general atrophy of muscle fibers which means some sort of denervation I would think.

Thanks for all your thoughts.

gina

 

[wright]

I think you need to concentrate on those things that point away from ALS . . . and there are plenty (your ALS specialist also says you don't have ALS . . . remember?). I think many of the nervous people on here should try to do the same.

The attitude SHOULD NOT be: "Prove to me that I don't have ALS"
The attitude SHOULD be: "Prove to me that I do have ALS"

There is a huge difference between the two. So many people come on here with symptoms "consistent" with ALS and somehow convince themselves they have it, but then so many symptoms point away from it and there are so many more plausible explanations. Unfortunately the mind gets clouded . . . the panic ensues . . . and it's difficult to convince them otherwise.

There is a member on here named Adrian (aka AHands) who is the perfect example. He has not gotten a firm diagnosis but has many things pointing in the "ALS direction" . . . many more than most people without a diagnosis on here. He has a wonderful, positive attitude. He won't accept he has it until he is definitely told he does and wishes to be treated for other possible conditions. He also leads (from what I can see from his words) a happy life.

Please don't forget that there are so, so, so, so many other conditions that are more probable. I see so many people on here where the symptoms point to peripheral neuropathy for example . . . and there are about 20 million people with a confirmed diagnosis of peripheral neuropathy in the Unite States . . . and many more that have it (some of you are on here) . . . that aren't diagnosed . . . yet. Again, that is just one example of a condition that can mimic ALS. There are certainly so many others.

If you put a dog and a horse next to each other: both have 4 legs, both have tails, both have a nose, etc., etc. The similarities are there, but if you look at the whole picture, certainly one isn't the other.

 

[puzzled36]

Thanks Wright. You are right, it is sometimes hard to stand back and look at it objectively when you are in the midst of it. I tell myself I'm being seen by the best, he writes most of the e-medicine articles on this stuff for gosh sake, but sometimes I convince myself he is an idiot. I'm going to go to work and try to have a good night and not worry. Thanks for the reality check.

Gina

 

[awieleba]

whoa...whoa....whoa...hold on here! pull in the reigns!

Who in the h**L would give an anul sphincter emg or get one? I am not that desperate, and believe you me, I am desparate!

Once again Wright, your research depth is amazing!

I trully just cant think of anything to say, I am speachless. And I guess very immature too.

april

 

[awieleba]

puzzled,

I wanted to say that my fingertips are the same way, like prunes. It comes and goes for me.

april

 

[Jamiet]

Puzzled...i am exactly as you describe, same path, same issues, even the +hoffmans, thinning issues, speech issues and all kinda crap that sounds just like you. I even have the muscle biopsy, called "Essentially normal" (go look up essentially in the dictionary....it will scare you!), but it has "rare" atrophic and denervated fibers.

I guess i'm in the 20% with you.

It seems there are alot of us....US = Age 30 - 40. Many neg EMG's, at least 75% of listed ALS symptoms and Dr's say we don't have it.

I don't know what to tell you except that i'm in the same boat.

I've heard this Doctor Hickey is really on to something and you could have heavy metal issues. He's really helped a few people out, people that I know are not lying.

I'm likely going to go see him, i'm just watching for a few more months at what happens to my buddies.

I don't post much anymore, i'm living my life, sick or not. I'm pushing forward each day, not focusing on my body.

PS: Yall, i make no suggest on Dr. Hickey, it's my own opinion, so i don't want to get in a discussion about it.

Puzzled, try to hang in there.

PS: Also, i was very HOOKED on pain meds. I started taking them b/c i was in so much pain at first, but what happend, is they were the culprit of 50% of my issues. Today, i still have all the ALS type symptoms, but, i FEEL so much better since getting off of pain meds. If any of you take opiates, after a while, thier effect is opposite and make things much worse! You know if you are in this category, if you need help with this, PM me, i will tell you how i did it!

Today, i'm happy, i'm alive, i'm living! I hope the same for you!

Rgds,

Jamie