After 9 years, I still have no answers. Looking for advice.

New diagnosis and before diagnosis
1

Hello there. Thanks for reading.

I’m struggling to understand what could be going on with my body and was hoping for some advice.

I’m a 37 year old man and for the past 9 years I have had odd and worsening neurological symptoms. It started with tingling in the foot, which lasted a few weeks then went away for a year or so before returning. This pattern of appearing and disappearing symptoms has continued over the last 9 years but the intervals between symptoms is getting shorter, and the symptoms have worsened over the years. In addition, I am now never completely symptom-free with my foot tingling to some extent at the best of times. Meanwhile, during times when symptoms are strongest, which can last weeks, I have very uncomfortable vibrations through my whole upper body, fingers that spasm by themselves, a weird feeling of tightness in my head as well as hot/cold feelings, numb patches that come and go on my foot . I also have had the lhermitte’s sign ocassionally (say 30-odd times over last 2 years) when I twist my head in a particular direction. The symptoms are sufficiently strong that they sometimes wake me up, but not so strong to ever yet prevent me going to work. The time between these symptom peaks has reduced to around 3-4 months it would seem, whereas previously I’d go a year without symptoms and the deterioration has been most noticable in the last 2 years when a range of symptoms I’d not had before began.

So I was thinking that all this sounds a lot like RRMS. However, I have been to 3 different neurologists over the years and had myself checked out and nothing has ever been found.

Around 5 years ago I had a brain MRI scan on a 3T machine without contract, which showed no lesions shown at all.

More recently, a year ago I had a full brain and spine MRI both with and without contrast on a 1.5T machine. This showed no lesions at all.

4 months ago, I had a full brain and spinal MRI both with and without contrast on a 3T machine. Again - zero lesions, though there were dark patches that the radiologist referred to as artifacts. I have also had a lumbar puncture. This was normal. I have had all this in addition to all the blood tests for the range of possibilities: rhumatoid, thyroid, vitamin B12, type II diabetes etc. All of this was completely normal also.

The neurologist reassured me that whatever it is that I am experiencing is beneath the sensitivity of the currently available tests and that given that I have had these symptoms for 9 years and no lesions have shown, that it is unlikely to be anything to sinister. I find this hard to believe given that the symptoms have deteriorated and are now uncomfortable and worrying.

I was thinking that if this is RRMS, then I should get onto disease modifying drugs as soon as possible. However, I can’t do anything at all without a diagnosis.

Would anybody be able to give me any suggestions of what else I might do?

Thanks again for reading this and best wishes to you.

Tim

2

Hi Tim ! I can empathise with you as I have been in a similar situation so totally understand how frustrating it is. My consultant did some blood tests on myself for a condition called Hughes Syndrome, also known as Lupus Anticoagulant or Antiphospholipid Syndrome. Apparently this condition mimics MS as I understand but is treatable although I haven’t seen an improvement in my symptoms after 6 months treatment. Not sure if you have been checked for this. Like you I have ongoing symptoms but with normal MRI and LP but I have abnormal VEP,s but no diagnosis of MS. Hope you get some answers soon. Take care x

3

Hi Tim,

In general, the longer you have had symptoms, the more likely something would show on MRI - if it were MS, that is. So your neuro is right that it’s very, very unlikely you would have had worsening symptoms for nine years, but still nothing to see.

The word “artifacts” in the context of an MRI scan is from the same root as: “artificial” - i.e. man-made. This means they thought the apparent abnormalities originated within the scanning process, and weren’t representative of anything that really exists. A bit like if you got a scratch on the negative of old fashioned film, and something strange would appear in the photo, that hadn’t really been there. OK, the technology is completely different, but the unexpected feature is still a product of the process used to make the image, rather than a picture of anything physically present.

I do not think getting on DMDs ASAP would be very good for you, if you didn’t, in fact, have MS. They have both risks and side-effects, which, whilst they might be tolerable to someone who definitely has the disease, would not be the sort of thing you’d want to inflict on someone who may not - indeed probably doesn’t - have it.

All that said, it doesn’t mean I think you should just live with it. There’s clearly something the matter, and you do need to get to the bottom of it, so I think you need to return to the doctor, explain your growing concerns, and that nine years and three neurologists have yet to uncover the cause, and see what else is suggested. There’s a possibility the reason nothing’s been found is that Neurology wasn’t the right department. I do have MS, but I have had similar - albeit not for as long as nine years. Initially, several years before diagnosis, I was referred to Rheumatology, who couldn’t find a thing - the reason being that it wasn’t a rheumatology problem. I’m fairly certain that if I’d been sent to Neurology from the word go, I’d have been diagnosed a lot sooner.

But the same could happen in reverse. If, for the sake of argument, you have a rheumatology problem that has only ever been investigated by neurologists, they might not find it either. I’m not saying your problem is rheumatology - it’s only one example. But I really think you almost need to start again with a clean slate. Explain to the doctor that all of the last nine years have drawn a blank; your symptoms are no better - on the contrary, seem to be getting worse. Ask if there are any other avenues to be explored, because just going home and living with it doesn’t really seem very satisfactory.

Tina

4

Hi Tim, I fully understand your frustration at not being able to get a diagnosis or even an explanation for your health issues. This is because I have spent 16 years trying to do the same!

But a couple of years ago, after being diagnosed with PPMS for a long time, I was told I didnt have MS at all!

My life has been turned upside down and inside out by 16 different neuros. Some of them say the same thing, some add different ideas into the pot.

I am currently labelled with idiopathic spastic paraparesis/possibly genetic.

My symptoms are different to your`s, but they mimic PPMS deeply.

Perhaps both you and I and countless others, will go though our lives never finding out what is going on inside our complicated bodies.

luv Pollx

5

I’m with Pollx, I have had for a number of years have had a range of neurological symptoms and only now am I seeking an holistic diagnosis, will I get one I am not sure but what I do know is this: there is something wrong with me full stop…who falls and stumbles for no apparent reason, who can create the buzzing and tingling sensations, the foggy thoughts, the spasms, the vision problems, the incontinence and the other endless symptoms that many of us on this forum experience. The medics acknowledge that I have many the symptoms of ms but like you without clinical evidence on an mri scan cannot give an absolute diagnosis. Hang in there as I do believe that for some of us we have a longer journey than others. I am still looking for answers as I believe that there is a treatment out there for me. Not sure what you can do next but if you feel you need more investigation then go with your instinct. Take care Lou x

6

I too have been going for many years (since 1991). A lesion was finally seen in 2011 (they were clear in 1991 and 2005). LPs have been clear too. I have a cervical myelopathy possibly due to radiation damage from treatment I had in 1990. Although a lesion has been seen there is not enought evidence to say MS.

There are people on here who have been given a dx of FND if they have neuro symptoms and clear MRIs. There is treatment for that. FND = “Functional Neurological Disorder”

Do you have hyper reflexes and positive babinski sign? It is just that I was told that if you have then there is something wrong with you central nervous system (maily spinal cord). People dont have this with FND.

Take Care

Moyna xxx

7

Just one further thought on this.

If you haven’t tried it already, it might be worth a change of GP, as after nine years without progress, it’s possible the current one either can’t see the wood for the trees, or has even given up looking. A fresh pair of eyes might open up a completely different line of investigation - something the current doctor hasn’t thought about.

Tina

8

Thank you everyone for taking the time to answer me. I’m sorry that so many of you have also had difficulties in finding a diagnosis.

Hi Monya. No, I don’t have hyper reflexes nor a positive babinski sign, and yes - I’ve been told my problem is functional - which I’ve interpreted as there being an admission that something is wrong, but that they don’t know what. If my situation were a stable functional problem, then I think that I wouldn’t bother pursuing it, but it’s deterioration is concerning to me.

Thank you, Tina, for your thoughtful advice on how to proceed. I will be going back to my GP. Before doing this though, after reading the very helpful summary of some of the ways in which MRI works from Karen (Rizo) on these pages, I think that I will first go back to all the scans and attempt to determine under what protocols they were done. If not done with the most up-to-date imaging techniques, then I guess that this would be something to think about. Of course, getting the most up-to-date imaging techniques on any re-scan might be more challenging…it seems to me to be a problem that as neurology becomes increasingly dependent upon imaging techniques that most neurologists - particularly older ones - don’t properly understand radiology. The most recent radiologist I saw was close to retirement and to hear him talk about the scans was a bit like having my grandad trying to give me a lesson on computers…the required skill-set has changed quite quickly and a lot just don’t have it. I sometimes think I’d rather simply speak directly to the radiologist.

Thanks Anon, for the tip on Hughes syndrome. That’s another thing I can at least question whether it’s worth testing for.

Finally, thank you Lou and Poll for your messages of support. I do hope that you are able to find some answers soon.

Best wishes to all of you and thanks again for all the time you’ve spent scratching your heads on my behalf.

Tim.

9

Thank you everyone for taking the time to answer me. I’m sorry that so many of you have also had difficulties in finding a diagnosis.

Hi Monya. No, I don’t have hyper reflexes nor a positive babinski sign, and yes - I’ve been told my problem is functional - which I’ve interpreted as there being an admission that something is wrong, but that they don’t know what. If my situation were a stable functional problem, then I think that I wouldn’t bother pursuing it, but it’s deterioration is concerning to me.

Thank you, Tina, for your thoughtful advice on how to proceed. I will be going back to my GP. Before doing this though, after reading the very helpful summary of some of the ways in which MRI works from Karen (Rizo) on these pages, I think that I will first go back to all the scans and attempt to determine under what protocols they were done. If not done with the most up-to-date imaging techniques, then I guess that this would be something to think about. Of course, getting the most up-to-date imaging techniques on any re-scan might be more challenging…it seems to me to be a problem that as neurology becomes increasingly dependent upon imaging techniques that most neurologists - particularly older ones - don’t properly understand radiology. The most recent radiologist I saw was close to retirement and to hear him talk about the scans was a bit like having my grandad trying to give me a lesson on computers…the required skill-set has changed quite quickly and a lot just don’t have it. I sometimes think I’d rather simply speak directly to the radiologist.

Thanks Anon, for the tip on Hughes syndrome. That’s another thing I can at least question whether it’s worth testing for.

Finally, thank you Lou and Poll for your messages of support. I do hope that you are able to find some answers soon.

Best wishes to all of you and thanks again for all the time you’ve spent scratching your heads on my behalf.

Tim.

10

Thank you everyone for taking the time to answer me. I’m sorry that so many of you have also had difficulties in finding a diagnosis.

Hi Monya. No, I don’t have hyper reflexes nor a positive babinski sign, and yes - I’ve been told my problem is functional - which I’ve interpreted as there being an admission that something is wrong, but that they don’t know what. If my situation were a stable functional problem, then I think that I wouldn’t bother pursuing it, but it’s deterioration is concerning to me.

Thank you, Tina, for your thoughtful advice on how to proceed. I will be going back to my GP. Before doing this though, after reading the very helpful summary of some of the ways in which MRI works from Karen (Rizo) on these pages, I think that I will first go back to all the scans and attempt to determine under what protocols they were done. If not done with the most up-to-date imaging techniques, then I guess that this would be something to think about. Of course, getting the most up-to-date imaging techniques on any re-scan might be more challenging…it seems to me to be a problem that as neurology becomes increasingly dependent upon imaging techniques that most neurologists - particularly older ones - don’t properly understand radiology. The most recent radiologist I saw was close to retirement and to hear him talk about the scans was a bit like having my grandad trying to give me a lesson on computers…the required skill-set has changed quite quickly and a lot just don’t have it. I sometimes think I’d rather simply speak directly to the radiologist.

Thanks Anon, for the tip on Hughes syndrome. That’s another thing I can at least question whether it’s worth testing for.

Finally, thank you Lou and Poll for your messages of support. I do hope that you are able to find some answers soon.

Best wishes to all of you and thanks again for all the time you’ve spent scratching your heads on my behalf.

Tim.