more questions.... long (sorry)

[rose]

I think all of this "hurry up and wait" is hard to deal with! It gives us so much time to think and wonder what the heck every little thing means and whether its related to our disease, or if its coincidental! In my own situation, I'd almost refused to read up on symptoms for fear that after reading about them I'd suddenly acquire them LOL. So, for me, the doctors are finding things wrong with me that I was not aware of, instead of the other way around. In 18 months its gone from them being puzzled when I tried to explain what I felt, to me being surprised that something else isn't right!

As I'd all ready shared before, the neurologist at Johns Hopkins had said she couldn't give me an official diagnosis until all tests were completed, but that she did not feel what I have is rheumatic in nature, that it was motor neuron. Then, when a copy of her notes from my visit with her arrived in the mail, she'd written "progressive bulbar palsy" as the diagnosis.

This morning when I was reading some new posts on the forum, sharonca mentioned that one will not receive a diagnosis of this nature if they go to their appointment alone (which I did). So, in retrospect, I don't know if the doctor would have been more forthcoming if I'd not come down there by myself.

But, irregardless of whether the verdict was completely in, I knew that this was what the expected "label" would be.

My laryngologist spoke at length with the JH neuro concerning me. The neuologist had expressed surprise that my tongue emg came back ok when I had very visible atrophy, and was weak and had fasciculations when examined. She said it was the only piece of the puzzle that did not fit . (this was in conversation with my laryngologist who in turn told me) She'd said maybe another emg of my vocal cords should be done (as this had shown the denervation/renervation) My laryngologist doesn't think it needs to be, as, for one reason, how could she possibly be sure she put the needle in the exact same place in my muscle going through from the outside, as this is how it is done.

So now all we're waiting on is to have this mri of my brain stem.

Yesterday I was in for another surprise though. I'd become sick with a very sore throat and had problems breathing, as my soft palate is already weak and low. So I went in to see my laryngologist, and when she started her exam, she also had me do the little test where we follow someone's finger with our eyes. I could not do it without them crossing a bit. I kept asking her to move back farther as I wear the mono-vision contacts ~ she kept backing up and my eyes still crossed! I don't know why she decided to test that either, whether it was because she noticed something while we were talking, or whether she has done it before and I just don't remember because everything was fine. It was upsetting as I didn't realize how much I'd been "holding on" to the reassurance that I'd still be able to keep my eyesight intact! My doctor said not to dwell on it, that we'd address it later if it kept up and she knew an excellent neuro- ophthalmologist up at Cornell that she could send me to. I do understand that it is a cranial nerve, but does not originate in the same part of the brain stem as the other nerves that have been shown to be affected.

...to sum it all up:

It has been found that I have lower motor neuron damage (vocal cord paresis, atrophy, and the abnormal emg), and upper neuron problems (brisk reflexes, and a hand that is stiff and cramps)

Examinations have shown that my swallow is weak, I have "spillage" into the esophogeal passage before I actually swallow, and a slowed esophogeal movement at the top. Soft palate weakness, weakness of the neck when my head is turned one way but not the other, tongue weakness, atrophy, tremor and fasciculations. (I don't know why they make the distinction, but they always write both terms, so I guess they see two different types of movement) ... And more that I can't remember without going and looking at the various reports I have.

Here are my specific questions....

Why would the EMG of my tongue come back clean, when it is obvious to every doctor that looks at it that it has the atrophy and both tremor and fasciculations. Is it just having to do with where the emg needle was inserted?

What should I think about the latest with my eyes not moving correctly? Everything I've read about bulbar palsy says that the eyes are not affected by it. Could it have just been a fluke because I was sick? Are there even more diseases out there of the motor neurons? Ones that would have upper and lower involvement and include the nerves that move the eye?

Can anyone explain what this mri of my brain stem (if it ever gets scheduled!) will show exactly? The regular mri of my brain did not show the upper neuron problems, however, it turns out I have them, so, what if the mri of my brain stem comes out clean? Will that leave me in limbo? Has anyone here been diagnosed even though their mri was fine?

Thanks in advance for any input.....

 

[BethU]

Hi ... can't answer most of the questions, but I also have disturbed vision. In fact, vision and speech problems were my first symptoms 2+ years ago. Have double vision up close (have to read with one eye closed at night) and at a distance when I'm tired, and blurring that comes and goes. My eyesight has deteriorated so rapidly over the last two years, my eye doctor said the only time she had seen that was in uncontrolled diabetes. (which I do not have). The distance vision stablized last fall, and blurring only gets worse when I am very tired or stressed ... but the double vision at night remains a pain.

Because of the vision problems and because I had respiratory failure in December (both a hallmark of Myasthenia Gravis), in January, I was diagnosed with MG (which is treatable), despite my having tongue fasciculations. (Sometimes tongue fasciculations are benign. They are NOT present in MG, nor are twitches, tremors, or cramps, except as side effects of MG meds. But they are a big red flag for ALS.)

It is difficult to differentiate between MG and ALS with an EMG test ... both produce similar denervation. HOWEVER ... you don't get any muscle wasting or atrophy with MG, only with ALS. (You do get muscle weakness, but not atrophy or wasting with MG.) The latest 2 neuros diagnosed me with ALS because of tongue atrophy and fasciculations.

They "solved" the problem of my double/blurred vision by leaving it off my "presenting symptoms" in their written report, which said I had presented with progressive speech and swallowing symptoms. Which is true but incomplete. I actually presented with vision and speech problems, which started immediately after open-heart surgery 2 years ago in March and which continue.The swallowing problem started a year ago.

I asked the doctor by e-mail (the one who did the EMG and diagnosed me with ALS) why he had not mentioned my vision problems in his report, but never got a reply. The nurse at the EMG test had told me he was "really good" about answering e-mails, so I was suprprised he didn't reply.

I'm now being referred to my 7th neurologist (!) for "clinical correlation" of the diagnosis, so perhaps I will
eventually get an answer to this. I do think I have ALS, but wonder why they are ignoring one of my most serious symptoms, which started this whole thing off!

I know these things are very difficult for neurologists to diagnose.

This probably didn't help much. I wish I had answers to any of this. But do hang in there. The uncertainty and confusion are almost (ALMOST!) as bad as the symptoms, aren't they ?!?!
Beth

 

[Sammantha]

Hi Rose

Sorry i cannot help, every single time i saw a neurologist they would do the eye test. I have bad vision but that is normal for me and my family. I feel for you! It is so frustrating i could cry just reading your post. My first neuro said you have carpal tunnel because my left hand had wasted and my wrist. Then the Nerve Conduction came back normal but the EMG was abnormal. Then the MRI showed 4mm tonsillar herniation probably from Arnold Chiari, and that i knew to call him if i experienced any severe headaches.... He NEVER said anything to me, he told me i had carpal tunnel and prescribed a wrist splint and lorazapem for the tremors! Then i go to a University where the doc says Have you always had brisk reflexes, i was confused. She then asked if i was told as a kid or by a doctor that i had brisk reflexes......... I said no, and all i had to do was look at my chart from the local neuro to learn that my reflexes were normal when i saw him! I read in my chart she wrote, hypereflexia throughout not worried as it is in all limbs. When i finally saw a ALS specialist he wants to keep waiting so HE can see the muscle wasting...... (Then he had me redo every test, which the MRI came back normal no tonsillar herniation! What would have caused my brain to swell them go back to normal, do you think they care to find out NO.) Well my tongue and throat have started in the process to the point my mouth gets so dry i end up getting thrush. He says Is that documented! I feel like saying, no i like telling people that i get thrush, it is a real icebreaker. I say, yes then he gets upset that my Internal doc isn't sending him this information. I have learned a great deal about doctors especially neurologists... Every one has bad mouthed the other and their tests... While everyone questions the validity of each others tests i am caught in the middle slowly falling apart mentally and emotionally....... Hang in Rose it sounds like they are really trying to help you, ask them questions that is what they are there for.

 

[rose]

Thanks, Beth and Sam! If nothing else, I know I'm not alone. Beth, did all of the myasthenia blood work come back negative for you(even the musk positive?) and I thought the ocular problems with myasthenia had more to do with the eyes drooping rather than actual vision (?) I wonder why your doctor felt comfortable leaving your vision problems out of the equation, and if it is coincidental that you've not had a response to your email. ~ and the same for Sammantha, why your questions go unanswered. It just continues to amaze me that so many people are living in this twilight zone! I do agree that my doctors seem determined to help me, and I'm thankful for that. I need to force myself to ask more questions when I'm there with them. This double vision thing has just thrown me. Maybe there are not that many neat little packages as far as diagnosing this disease goes. Even though I know I have motor neuron disease, the actual type would be so helpful for me, as regardless of the prognosis, at least I'd know more what to expect.... For the most part I still balk at the idea of researching each new symptom when it surfaces ~ like yesterday I was drinking something cold, and my face cramped up and got all achey ~ and as we were talking about before, banging my elbows (still am, just about ready to buy elbow pads! LOL) But, when it comes to testing and interpreting the results ~ that I can't learn enough about fast enough!

If anyone does have some understanding about the next type of mri I am to have, I'd be so grateful for a little insight as to what it would reveal, and ultimately how necessary it is to reaching a diagnosis....

 

[wright]

Hello Rose

My heart goes out to you for having to endure all that you have. You are obviously a very strong person and you should be proud of yourself for the way you are handling things.

As for your questions:

The tongue is dually innervated, where one of the nerves goes to the right side of the tongue and the other goes to the left side of the tongue. If they needled the side of the tongue where it has not been affected, then that is a possiblity. Is only one side of your tongue affected? How long have you had the tongue symptoms? Have you had past EMG's that have shown denervation with your tongue?

The MRI is most likely looking for a lesion in the brainstem that could possibly explain your bulbar symptoms. MRI's don't have the resolution to determine neuronal death via ALS, especially during the diagnostic stages. That is why the MRI of your cerebral cortex (which is where your upper motor neurons are located) was clean; it simply wouldn't be seen with an MRI.

As far as your eyesight problems: the "follow my finger test" is actually done to test the extraocular muscles that control eye movement and not your vision per se. Those muscles are supposed to be spared with ALS (very rare exceptions exist), so it might be completely unrelated.

I hope that helps. Take care and if you have more questions, please ask us.

 

[rose]

Yes Wright, that does help. So, I should expect the "coned down" mri of my brain stem to not show anything? (unless advanced, and I'm not "advanced" yet!)... I'd asked my laryngologist what it would show, if anything, and she said she didn't know, but seeing as I have the brisk reflexes, and upper neuron did not show up on the mri, she didn't know why this special type would be for more than ruling out other disease.

I've only had the one EMG of my tongue. The neurologist and even the doctor that performed the EMG was surprised that it came back ok.

I asked the doctor that did the EMG what he made of it not showing anything wrong and he was kind of vague. He said something about nerve or muscle bundles, and if the needle didn't go into a specific one that was affected, that it wouldn't show. The EMG needle was stuck in the top back sides of the tongue, not the front... He also said something about upper versus lower neurons and the EMG only measured lower neurons. My tongue is grooved out all the way around now, even the impression of my two center lower teeth which are somewhat overlapped is clearly visible. Both sides continue to look more rippled and gelatinous. It looks almost like it has wrinkled saran wrap on the underside. It does go to the right when I stick it out. I can make it go to the center if I concentrate, but it goes farther if I let it go the way it wants to go, which is to the side. It doesn't go far either, just midway from the outer edge of my lip, but I've never had a really long tongue so its hard to gauge. If I do it in front of a mirror I'm always a little surprised, because it doesn't feel like its going to the side.

I guess I don't understand what truly consititues atrophy. My doctors write down the atrophy of my tongue in theri reports (and fasciculations and tremor) ~ I thought that there had to be lower neuron involvement for this to happen. The doctors first noticed my tongue shape around December time...

Thanks again for your imput!

 

[wright]

Hello again Rose

As I said before, the MRI won't show motor neuron death, so I really think they're looking for a lesion to see if that can explain your symptoms.

Your EMG would be clean if your symptoms originated from your upper motor neurons (upper motor neuron death will not be picked-up by the EMG because those neurons do not project to your muscles). I thought you said you had atrophy though, which is more of a lower motor neuron symptom. You can get disuse atrophy from upper motor neuron problems. Are you sure you have atrophy or is it more like scalloping from rubbing your tongue against your teeth. This can happen if you don't have good control of your tongue.

Keep hanging in there, Rose and keep us all informed.

 

[BethU]

Hi, Rose ... thanks for responding. I'm really learning a lot from this forum, although I only understand about half the stuff I read!

I've had blood drawn for the MuSK test 3 times since early March ... and the diagnostic center keeps messing up, losing the sample, "unable to read the doctor's instructions," etc., etc.

I drove 120 miles round trip to have the MuSK test done and the EMG redone at a university neuromuscular center on May 5, and the neuro immediately diagnosed me with ALS and skipped the MuSK test. The neuro said he knew I had ALS as soon as he heard me speak, because I am what ALS sounds like. But when I was in the hospital with respiratory failure in December, the speech pathologist said that as soon as she heard me speak, she knew I'd had open-heart surgery, as my speech is what people sound like who have had damage to the "recurrant larengeal nerve" that wraps around the heart. My speech therapist said my disarthria could be caused by a variety of things.

Meanwhile, the diagnostic center that has tried 3 times to do the MuSK test managed to locate my last-drawn blood sample (which was in cold storage since early April) and sent it to a specialty lab for analysis, but they won't release the results to me. (I reminded them that legally, all my med records belong to me, but that makes no never-mind to them, and I'm too worn out by all this to fight them.)

My primary care physician, who has received the results in her office, is on vacation, so don't know when I'll hear. I'd really like to have MG ruled out, because it just confuses the issue ... gives me a glimmer of false hope that **maybe** this really isn't ALS, when I'm pretty sure it is.

Neuro #3 (who prescribed the mestinon) said he was positive it was not ALS ... he said flat out it couldn't possibly be, the fasciculations on my tongue didn't look like ALS ... he said I just had a "twitchy tongue" (that's a quote) ... and the mestinon certainly gave me a lot of strength and energy, and improved my eyesight. But it made my swallowing worse, and had no effect on my speech. Since I stopped the mestinon last week, my swallowing has improved a LOT. I ate a PB&J sandwich today and drank 3 glasses of milk with no choking or coughing! That's a miracle. I've been restricted to yogurt and puddings and thick liquids for several months, choking on saliva, having lots of coughing spasms, etc.

Wright's comments about atrophy are interesting. I'm not sure what atrophy looks like, but the left side of my tongue is indented along the side. The neuro who said it was ALS said there was definite atrophy of my tongue, so I guess that's it.

When they did the EMG on my tongue, they went up from underneath my chin, which sounds worse than it was. It wasn't fun, but it wasn't THAT horrible either.

I guess I'm just venting ... it helps so much to "talk" online, since I can't make myself understood by voice any more. Went to FedEx yesterday with a complex shipping problem, and they made me write it all down, as no one could understand me. Very embarrassing. I have a "type and speak" gizmo that I'll have to learn to use asap. My husband is quite deaf, so we're down to hand signals and one-word conversations, like "Dinner!"

Thanks for listening!
Beth

 

[BethU]

Rose ... p.s., double vision and blurred vision are characteristic of MG. A drooping eyelid is a dead give-away, but is a different issue. Double and blurred vision happen because the muscles controlling the eye's focus weaken with use. Which is why the fact that my sight deteriorates at night, or when I'm stressed or tired, was significant to the one neuro who called it MG.

Beth

 

[rose]

Beth, you have really been put through the ringer! And the comment you made at the end about how your and your husband are communicating would be funny if it wasn't so sad!

Here's the thing that I thought I understood about the MuSK myasthenia. Those with the muck positive don't have ocular involvement. I've read it a couple of places, but don't remember where, and besides, there seems to be exceptions to everything anyway!

I can totally relate to your frustration. After I had the EMG on my vocal cords last September (that came back bad) I was to have the MG tests run. So, I didn't want to drive into the city just for this ~ I live just on the other side of the Hudson from New York, but driving in is a huge pain! So, I went to a local neruologist, who, 1) Told me by checking my reflexes that I was fine, Nothing neurological going on (right) 2) Ironically was the first to make comment about my tongue twitching. However, He ordered all of the correct blood work.

Getting the results was a different story. He reassured me he would let me know one way or the other, but he never ever would return my calls. (this same office was later just amazingly slow about getting these test results to Johns Hopkins too, and didn't even bother to tell me they had moved office to another address when I called to come in and sign the release form for Johns Hopkins!)

but, I digress ... I never found out what the tests said. I went back into the city to Mt Sinai and saw the neurologist that performed the EMG on my vocal cords with my laryngologist. I start to explain to him about not having the blood test results, and he cut me off, it was like, it doesn't matter, you don't have MG, thats what I do here at the clinic is just ALS and MG, and I know you don't have it. He also told me I didn't have ALS because at this point I had no difficulty forming words, it was just my voice. He was betting it was Sjogren's, an autoimmune condition that had infiltrated my nervous system..

Months later, when my laryngologist told him that the Sjogrens had been completely ruled out as a cause, he said to her that well, if it wasn't the Sjogren's then his only thought was bulbar palsy.

About my tongue. I don't understand a whole lot about this, but I do know that twitching and fasciculations are not, or should not be used interchangeably. They're not the same thing. For a few months I had the twitching. That is how the doctors would describe it, and what would be written in my notes, but then, the neurologist down at Hopkins noted twtiching and fasciculations, and the doctor/speech therapists that performed my swallow test wrote the same. So, it is a progressive thing.

To look at it, my tongue is scalloped all the way around, kind of like a lasagna noodle (not the curly type though LOL) it is a perfect impression of my teeth, right down to the little jag in the front where the lower center ones overlap. The underside and sides of my tongue keep getting clearer looking, like translucent, with lots of little divots, so that it almost looks like wrinkled saran wrap covering it. Like the tongue has a skin, and the insides of it shrunk, but the skin hasn't. (I have no idea if a tongue even has a skin, only trying to describe it). The top is not dented, but first thing in the morning when I go to brush my teeth, I can see the imprint from the roof of my mouth on it.... The doctors write down about the shape, and also say it is atrophied and weak. I'm not so sure of what criteria is used for atrophy, but that is what they put in their notes. My lips also are starting to get the impression of my teeth, and are thinner. Not the border of them, but how fat they are.

I agree with you, this forum is wonderful. It helps me realize that I'm not alone in any of it, not the struggle for diagnosis. or with the disease itself.

I hope you get some positive news, but I understand that at this point you're probably wanting any sort of news. Its a shame that it has to come to that!

((big hugs! ))

 

[rose]

Rose ... p.s., double vision and blurred vision are characteristic of MG. A drooping eyelid is a dead give-away, but is a different issue. Double and blurred vision happen because the muscles controlling the eye's focus weaken with use. Which is why the fact that my sight deteriorates at night, or when I'm stressed or tired, was significant to the one neuro who called it MG.

Beth

You know , I just went back and looked at my report from JH, and she mentions the extra-ocular movement was normal then (in April) I still don't know if it was a glitch with me yesterday or a new development... I don't have any drooping....

 

[BethU]

Thanks, Rose! I think the doctor who called it MG was an idiot, frankly. He told me if I had presented with bulbar symptoms of ALS 2 years ago I'd be "six feet under by now." Dr. Tactful. And he didn't order any further MG tests, just wrote a prescription for mestinon and waved me away.

My tongue actually doesn't twitch (I'm lucky to get it moving any way at all at this point ... it moves very slowly) ... it just has tiny quivers at random all over the surface. The MG idiot said that with ALS you get twitches "rolling" across the surface like surf. But the guys at the university neuromuscular center (UC Irvine) deal with ALS and MG all the time, and they said it's ALS.

That's interesting about MuSK and ocular MG. The MuSK variety is the rarest of the rare anyway ... and I feel pretty sure the UCI guys nailed it with ALS. I was REALLY dreading that diagnosis, but it seems there is so much you have to figure out in how to live and function with this disease ... and research what the doctors are telling you and ESPECIALLY what they aren't ... and paperwork, paperwork, paperwork to get treatment ... that you don't have much time to spend worrying once you know for sure.

Been looking at my tongue with a flashlight ... as I said, ALS keeps you busy! ;-) ... and the surface seems deeply quilted, as well as indented along the sides. I seem to remember when I was young, it was smooth and plump ... but I never really spent much time looking at it! I'm pretty sure this must be atrophy.

Your imprints of your teeth on your tongue sound a little like dehydration (not that I know anything about it). Interesting ... wonder if that is a subtle form of atrophy or something else entirely? It doesn't sound like what's happening with me. I tried to find photos of atrophied tongues in the Merck Manual, with no luck.

[And actually ... conversations with my husband haven't changed all that much! ;-) ]

Thanks so much for your support!
Beth