Can I rule out MS?

[mistelaj]

Hi! I am a 28 years old woman in Sweden. I have no diagnosis and probably I do not have MS, but am looking for answers.


My body is big mess. It started 7 years ago with weird breathing problems. Lungs are fine, but I am short of breath, have diaphragm dysfunction, air hunger etc 24/7. I went from doing meditation and yoga every day, to not being able to breath normally. The symptoms go up and down, but do never go away. When it's worse I almost can't sleep, eat etc and have to spend most of my time standing. Feels like I have a balloon inside my and the diaphragm moves very weird. I also have like an extreme tight band around the chest and around the abdomen. I have no anxiety or mental problems. All of the abdominal muscles are involved nowadays. My family doctor wants me to do an emg of the diaphragm, but the neuro clinic says they can't do it...no idea why. Maybe I'll have a fluoroscopy/sniff test instead.


Maybe 4 years ago I got numbness in my face. It lasted for a week and then it got better, but after that everything became a big hell. A year earlier I woke up one day and couldn't pee, but it only lasted for some hours.


Some symptoms are here all of the time, some of them flare up. Sometimes they go away again, sometimes they just decrease and sometimes I get something new to deal with everyday.


My symptoms today are constant weird feelings in the face, like paresthesia, numbness and tingling, pain, painful spasms etc. Sometimes it's really hard to deal with....I just want to put my head somewhere else be alone..


I always have tingling in hands and feet. Very weird feeling in my fingertips. I get flares with widespread numbness. Last week it started in a leg and spread to one side of the abdomen, genitals, arm, neck, face etc and then the bladder got numb and and the gut became paralyzed (I am used to extreme gut motitly problems, but not like this..). It lasted for 5 days and started to get better. I have lower degrees of this this all of the time though. I get numb in my legs when I walk and also stiff. I also get more numb in face whe In use the muscles, eat etc.


I have blurry vision, eye pain etc. I have had severe gut problems for a long time and they call it enteric dysmotility. I get spasms and extreme tightness in muscles. Fatigue, of course.


I have cogwheel rigidity, dizziness, head pressure, weakness, swallowing problems and sometimes I can almost not speak because of weakness.


The problem is that my MRI:s are fine. And I had one with contrast 1,5 year ago. I guess, because my symptoms started many years ago....something should have shown up on the mri:s now after all these years if I had MS?


It's just so hard to suffer from all this without having a name for it. I have Ehlers Danlos syndrome, but it doesn't explain all this.... I have no deficiencies (b12, d-vitamin etc), infections etc that can explain the symptoms.

Thank you.

[KoKo]

Hi! I am a 28 years old woman in Sweden. I have no diagnosis and probably I do not have MS, but am looking for answers.


My body is big mess. It started 7 years ago with weird breathing problems. Lungs are fine, but I am short of breath, have diaphragm dysfunction, air hunger etc 24/7. I went from doing meditation and yoga every day, to not being able to breath normally. The symptoms go up and down, but do never go away. When it's worse I almost can't sleep, eat etc and have to spend most of my time standing. Feels like I have a balloon inside my and the diaphragm moves very weird. I also have like an extreme tight band around the chest and around the abdomen. I have no anxiety or mental problems. All of the abdominal muscles are involved nowadays. My family doctor wants me to do an emg of the diaphragm, but the neuro clinic says they can't do it...no idea why. Maybe I'll have a fluoroscopy/sniff test instead.


Maybe 4 years ago I got numbness in my face. It lasted for a week and then it got better, but after that everything became a big hell. A year earlier I woke up one day and couldn't pee, but it only lasted for some hours.


Some symptoms are here all of the time, some of them flare up. Sometimes they go away again, sometimes they just decrease and sometimes I get something new to deal with everyday.


My symptoms today are constant weird feelings in the face, like paresthesia, numbness and tingling, pain, painful spasms etc. Sometimes it's really hard to deal with....I just want to put my head somewhere else be alone..


I always have tingling in hands and feet. Very weird feeling in my fingertips. I get flares with widespread numbness. Last week it started in a leg and spread to one side of the abdomen, genitals, arm, neck, face etc and then the bladder got numb and and the gut became paralyzed (I am used to extreme gut motitly problems, but not like this..). It lasted for 5 days and started to get better. I have lower degrees of this this all of the time though. I get numb in my legs when I walk and also stiff. I also get more numb in face whe In use the muscles, eat etc.


I have blurry vision, eye pain etc. I have had severe gut problems for a long time and they call it enteric dysmotility. I get spasms and extreme tightness in muscles. Fatigue, of course.


I have cogwheel rigidity, dizziness, head pressure, weakness, swallowing problems and sometimes I can almost not speak because of weakness.


The problem is that my MRI:s are fine. And I had one with contrast 1,5 year ago. I guess, because my symptoms started many years ago....something should have shown up on the mri:s now after all these years if I had MS?


It's just so hard to suffer from all this without having a name for it. I have Ehlers Danlos syndrome, but it doesn't explain all this.... I have no deficiencies (b12, d-vitamin etc), infections etc that can explain the symptoms.

Thank you.

Hi mistelaj

I'm sorry that I don't have any answers or good feedback for all that you're going through.

I can understand your being frustrated, with so many symptoms and unknown cause.

Curious as to what your doctor says about all of these symptoms?

Could you get another opinion from a different doctor?

Take Care

[jreagan70]

Can I rule out MS?

Hi mistelaj:

In your individual situation, I’m going to say no, it’s too soon to rule out MS. And because it applies only to you, I’ll explain why in a minute.

I want to ask about this right away:

Last week it started in a leg and spread to one side of the abdomen, genitals, arm, neck, face etc and then the bladder got numb and and the gut became paralyzed (I am used to extreme gut motitly problems, but not like this..). It lasted for 5 days and started to get better.

In MS, the onset of new or the worsening of old/existing symptoms that are typical of an inflammatory, demyelinating event (which yours are) are considered to be an attack. Have you had MRIs of your brain and spinal cord -- with and without contrast -- within the last week, or do you have them scheduled within the next week? If not, your window of opportunity to catch MS lesions if they’re present is NOW. So you should be having MRIs done to MS protocols within the next week or two as part of the diagnostic process. It’s in your best interest to not let this opportunity get by.

Usually when someone posts in an MS forum and asks whether they should give up on the idea of MS after years of unexplained symptoms, the answer is yes. In those many cases, their test results are usually normal or nearly so, their physical exams are usually normal or nearly so, their symptoms are more sensory than motor, and their symptoms are so nonspecific that they could apply to many different conditions and aren’t presenting in a context that’s characteristic of the way the symptoms act in MS.

From what you’re describing, though, your case is different. Some of your symptoms – diaphragm dysfunction, gut paralysis, bladder dysfunction, swallowing problems – are very specific and within the specific context of the way MS acts that very few other conditions do. Even your less-specific symptoms like numbness, weakness, and vision issues are – in the context of those specific symptoms – are very suspicious for MS and possibly other demyelinating diseases.

Your presentation is so suspicious for MS that some medical providers would feel that it should be assumed that you have MS until proven otherwise. And I agree with that, which is why I say it’s too soon to rule it out.

Normally, after 7 years, it would be expected that MS lesions would show up on MRI. And the diagnostic criteria for MS rely heavily on MRI evidence. But from what you’ve told us so far, I can’t tell if you’ve had 1) enough testing 2) of the kind needed for an MS diagnosis, and 3) whether that testing has been properly performed.

When you say that your MRIs have been “fine,” what does “fine” mean? Were they of your brain and full spinal cord? Were they done on 3T machines according to MS protocols, with the proper sequences at the proper spacing? And what exactly did all of the radiology reports say about the findings and possible causes for those finding? Without that exact information, “fine” doesn’t really mean anything. A decision about whether to give up on or continue to pursue a diagnosis can’t be based on something that doesn’t mean anything.

Also, have you had a lumbar puncture and analysis of your cerebrospinal fluid (CSF)for oligoclonal bands and abnormal proteins that are characteristic of MS along with associated blood testing? One negative lumbar puncture isn’t enough to base a diagnosis or a rule-out on in the context of your symptoms.

When was your last lumbar puncture? If your last test was more than 2 years ago, you might even consider having one within the next week or two since you’re so close to having an increase in neurological symptoms that might be an indication of an MS attack (or attack of some other condition that’s recently active).

The latest news about MS is that the international committee that decides on the diagnostic criteria for MS is considering adding CSF analysis back into the diagnostic criteria. So the testing is definitely worth repeating in a case as unusual as yours.

The fact that the neuro clinic can’t do an EMG of your diaphragm is one of the things that makes me wonder whether you’ve been getting proper testing. I don’t know how the Swedish health care system works, but having to forego a useful test because one clinic can’t do it is unacceptable. Is there something you or your doctor can do to get the EMG done at a different clinic?

How many neurologists and gastroenterologists have you seen and what were their assessments and treatment plans for your neurological signs and symptoms?

Have you had an EMG and nerve conduction testing of your limbs done? What were the results?
Have you had sensory evoked potentials of your visual system, vestibular system and limbs done? What were the results?

Blurry vision and eye pain are vague, nonspecific symptoms. To tie those to possible MS, you must have very, very specific diagnoses of your visual system. Have you had proper comprehensive eye exams by an eye doctor (an ophthalmologist, NOT a neurologist)? Is there any indication that you've had optic neuritis? Are your pupils functioning normally? Is there any evidence that your eye muscles have been affected, causing ocular motility problems or double vision? What does your visual field look like for each eye? Are there any other conditions going on with your eyes that might be mistaken for signs/symptoms of MS?

What other conditions have you been tested for and what were the results? Have you been tested for neuromyelitis optica spectrum disorder? The more conditions you can name, the better.

Have you been tested for mitochondrial disease? Have you been tested for genetic conditions? What were the results?

I know that it’s possible that you may have had good testing already. But as I said earlier, your presentation is so suspicious for MS that it should probably be assumed that you do have it until proven otherwise. Then only accept proof otherwise and rule it out after you’re 100% sure that you’re had all of the appropriate, applicable testing done properly and possibly repeated.

[mistelaj]

Hi mistelaj:

In your individual situation, I’m going to say no, it’s too soon to rule out MS. And because it applies only to you, I’ll explain why in a minute.

Thank you so much for your helpful reply

I have never done a lumbar punction... I have to see a neurologist to do a LP, my doctor can't send a referral for a LP..

The first neurologist I met was a nightmare. He asked what I am afraid of, said that I should be happy because I am not in wheelchair, my MRI:s are fine and said I am just a sensitive person. I am really not sensitive...and I am not afraid, the situation is just tough.

My family doctor sent me to another neurologist. She was kind, but she did just do a normal neuro examination (eyes, limbs, sensory tests etc) and said no need to do a lumbar punction with a clear MRI.

And yeah, I think my MRI pictures looks really good. In my eyes too, when I compare to other pictures on the internet. My doctor also sent them to neuroradiologists and they couldn't see anything, but that was 2015. I have the pictures, but I am not sure which of them is the right ones....or if it's stupid to upload here or something.

I have had another mri of the brain efter that when they were looking for blockage of the csf flow, but everything was fine. And then a mri of the spine to look for instability, herinated discs etc. I have some mild instability in the neck and a very mild tonsillar herniation, but they say it doesn't cause problems and it's "normal" for hypermobile person"... And it can't explain flare ups in symptoms.

So I have not had a brain and spine mri recently with contrast. And absolutely not after my last "flare". Is contrast always needed, even if it's a good camera? I am little bit scared of the contrast because I got weird reactions before..

My family doctor really tries to help me and he is frustrated too. Now he wrote to the neuro clinic again (at our large hospital Karolinska, last time they sent me to anaother small clinic instead), so I'll see if they let me visit them....I am doubtful. It would have been easier if I got paralyzed and total sensory loss. Right now I can just explain my symptoms...I get numb and weird sensations, but I can feel cold, heat etc. I have awful sensations in my face, but the neuro examination is fine.

My doctor found out that I have cogwheel rigidity this week when I met him, but said that it's more of a parkinson sign. My grandfather had pretty early onset Parkinson, but I don't have much other parkinson symptoms..

EMG of the limbs were all fine. The first time emg of the limbs were the goal, but the next time my doctor wrote a referral he wanted them to do a emg of the diaphragm, but when I came to them they just did the limbs and laughed and said that I can go to lung clinic and do a spirometry if I have breathing problems. This was at our big hospital Karolinska..."world leading" with their Karolinska institute....

I have not seen an eye doctor. Not sure if I have real visual problems, it's more like painful and blurry...not really vision loss.

I have got no help at all from specialists. Or, I was prescribed medications like Lyrica and low dose Tryptizol for pain, but they was a hell. I have a good gastroenterologist and he gave me the diagnosis enteric dysmotility (I had abnormalities on small intestine manometry, dilated fluid/gas filled loops on CT), but I can deal with it pretty "good" on my own, with diet and supplements.

Sometimes I get very confused when I get worse when I have an infection, when I do to much, from weather etc and I think everything is because of that, but then I realize other people do not react like this. And I guess this fluctuations can be a part of what they call pseudo flares.

Right now my diagnoses are Ehlers danlos syndrome and ME/CFS, but most of my symptoms aren't really me/cfs symptoms..

I'll call my doctor again right after the weekend and talk about an new mri now, but I think it's about 2 weeks wait, but maybe it's possible to do it acute.

Thank you!!! Not really sure if I answered your questions, or just a lot of other things. I'll read all your advices again!

[mistelaj]

Hi mistelaj

I'm sorry that I don't have any answers or good feedback for all that you're going through.

I can understand your being frustrated, with so many symptoms and unknown cause.

Curious as to what your doctor says about all of these symptoms?

Could you get another opinion from a different doctor?

Take Care

Thank you so much! My family doctor really tries to help me and I think he is frustrated too. The specialists is the problem and they say that my MRI:s are fine, so everything is fine.. I wrote more about it in my reply to jreagan70

[jreagan70]

Hi mistelaj:

It definitely sounds like it's too early to rule out MS. Before it's ruled out, you really do need a current set of MRIs of your brain and cervical and thoracic spinal cord. And because your presentation is so unusual, you also really do need a lumbar puncture. A negative LP does NOT rule out MS, but an abnormal LP could be like finding solid gold when it comes to making a diagnosis.

And if you'd like to make sure you've done reasonably thorough testing, sensory evoked potentials testing should be done, too -- visual evoked potential (VEP) brainstem auditory evoked potential (BAER) and somatosensory evoked potential (SSEP). They test different functions than an EMG that are more specific to MS. They're inexpensive, fast, and easy to do and can give helpful information for diagnosis.

You need MRIs of brain AND spinal cord to look for MS lesions. The brain alone is NOT enough. And even though the MRIs are called a spinal series, the intent is to look at the spinal cord, not the spine itself. (In looking at the spinal cord, the bones and discs aren't important.) In addition, your doctor has to be specific to order MS protocols, or at a minimum say something like "rule out MS."

Is contrast always needed, even if it's a good camera?

A properly done MRI already shows everything that's possible to be picked up by that strength of magnet (MRIs don't pick up everything). So the purpose of contrast is not to make things show up better. In MS testing, the purpose of contrast is to differentiate between different types of tissue. Areas of active inflammation in the central nervous system absorb the contrast medium and show up brightly -- enhance -- with certain kinds of MRI signals. Areas of old, non-inflamed damge don't soak up the contrast and don't enhance.

All MS lesions that are big enough to see on MRI will be picked up without contrast. The value of the contrast is that it differentiates between actively inflamed and noninflamed lesions. The presence of both kinds of lesions at the same time is important in the diagnosis of MS because it can establish the criterion of dissemination in time.

The timely thing about contrast is that inflamed lesions enhance for about 6 weeks. Since you just had a flare, you're in the perfect timeframe to catch enhanced MS lesions if they exist. Two months from now would be too late.

Contrast isn't always needed, and it isn't used if the only intention of the MRI is to find the presence of lesions, no matter when they formed.

I am little bit scared of the contrast because I got weird reactions before.

Just because reactions seem weird doesn't mean that they're dangerous. Gadolinium has been evaluated several times and has been found to be safe in everyone except those with severe kidney disease. Temporary discomfort has to be weighed against the value gadolinium provides. In the diagnostic phase, it's valuable.

My family doctor sent me to another neurologist. She was kind, but she did just do a normal neuro examination (eyes, limbs, sensory tests etc) and said no need to do a lumbar punction with a clear MRI.

That's the kind of formulaic, backwards thinking that a general neurologist might engage in. With an abnormal MRI, you already have a good idea of what's going on and the LP acts more as supporting information. The reason you need an LP is BECAUSE your MRIs were clear, and you need as much information as you can get to try to find out what the problem is.

My family doctor really tries to help me and he is frustrated too. Now he wrote to the neuro clinic again (at our large hospital Karolinska, last time they sent me to anaother small clinic instead), so I'll see if they let me visit them....I am doubtful.

Is there some reason why your family doctor can't refer you directly to a neurology clinic or an MS clinic?

In looking for some information about MS treatment in Sweden, I came across an article that featured Anders Svenningson, the Chief Physician at the neurological clinic at Umeå University Hospital. Then I pulled up the English website of the Department of Clinical Neuroscience at Umeå University. It says:

"The University Department of Neurology has a close collaboration with the Neurology, Neurosurgery and Clinical Neurophysiology units comprising the Neurocenter clinical center at the University Hospital. Whilst much of the patient care is short-term in nature, long-term contacts and rehabilitation of patients with chronic neurological disease as well as diagnosis of unusual neurological disorders is also an important part of the clinical care undertaken at the Neurocenter."

That sounds like exactly what you need. At least it sounds like the best lead you've had so far.

Under your health care system, would you be allowed to go there? Not whether you want to travel halfway across the country, because it wouldn't be surprising if you don't. But again, considering that you described your body as "a big mess" and it doesn't sound like you're getting anywhere with your local neurologists, this looks like the best opportunity so far.

And at another minimum, it would be helpful to get another neurological opinion about why you have enteric dysmotility and diaphragm dysfunction. Those aren't normal in anyone, but particularly not in someone who's only 28. And having them both together is exponentially unusual. So a medically appropriate place for you is a clinic that considers "diagnosis of unusual neurological disorders [to be] an important part of the clinical care undertaken at the Neurocenter."

[mistelaj]

Hi mistelaj:

Thank you so much! My doctor has referred me to the neuro clinic at the large hospital Karolinska in Stockholm three times now.. First time they did not accept and sent it back (clear mri), so he referred me to a smaller privat neurologist (real psychopath). Then he tried again and they sent me to another small clinic (still Karolinska, but a small clinic outside the hospital. Now he tried again last week, So I'll see..

I have been thinking about getting a second opinion outside Stockholm. There are big hospitals in Umeå, Uppsala, Malmö, Lund Gothenburg...so I'll have do some research and see what's my best alternative.Unfortunately the swedish health care is a joke many times. They say we are best in the world, but everything is very restricted and they do not listen to new international knowledge many times. Neurology and neurosurgery are in a class by itself...a friend of mine had to fundraise and go to Spain for neurosurgery because the Swedish neurosurgerons didn't even let her visit them. Not sure if it's called little brother complex in English too..


I'll call my doctor tomorrow too and see if I can do a new mri NOW. He asked for MS at least two of the other times I think, but not the last time I guess (because it was a cine flow study) They do only have ordinary radiologists where they do my mri:s, so I guess a new mri is good and then let a neuroradiologist look at the pictures! I was thinking about going to the emergency room, so I maybe can have a LP right now....but I am not sure if it's waste of time, if they will help me. My family doctor is the only one I trust right now after all years in the health care system...so I'll ask him tomorrow first.


I'll check out VEP, BAER and SSEP too! Thanks! So thankful for all your help!

[jreagan70]

Hi mistelaj:

It sounds like you have a good plan in place.

I came across Dr. Anders Svenningson from the neurological clinic at Umeå University Hospital because he was interviewed for an article specifically about the treatment of MS in Sweden. So that's how I found out that Umeå has an MS clinic.

If Umeå Hospital, or another big neurology clinic, won't agree to see you for an MS evaluation, perhaps they can be persuaded to investigate how and why you have two rare neurological disorders together when no apparent cause can be found. That's the kind of challenge that a truly dedicated and curious neurologist should find hard to resist. Let's hope it works in your favor.

By the way, even here in the US, it's best to avoid private neurologists.

I'm sending you good wishes on your way. And also please give my regards to your family doctor and let him know that his wisdom and dedication are appreciated all the way over here in California, USA.

[mistelaj]

Thank you jreagan70 I called my doctor this morning and he told me that the hospital had sent the referral back....again. Not sure if he wrote an incomplete referral or if they are the problem. But now he sent another referral to a small neurolog clinic and I have a time booked in 5 weeks. No idea if he is good or not, but I give it a chance and otherwise I leave Stockholm My doctor didn't want to let me do another mri now, he said he wants me to get help a neurolog who knows something about this, which he doesn't.....and I can understand that, he is not a specialist. So I'll wait for this and if I get more symptoms again before that I'll go to the ER and see if they can do a LP.

I also found out that most of my MRI:s were in a 1,5 tesla camera, I didn't know.... I have done a MRI of the brain once in a 3t, but it was not to rule out MS. It was the cine flow study and they did not all the series needed for MS. And I have definitively not done 3t mri of the neck and t spine. I called the clinic (seems like the only one with 3t outside the large hospitals here in Stockholm) where I did the 3t mri and they said they can just do head and neck in the camera...and not rest of the spine. Weird. Maybe I have to go to Gothenburg instead :/ I'll see what happens Thanks so much again!