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- [00:06]
A
Hello and welcome to the Ms. Trust Podcast. My name is Helena and I work here at the Ms. Trust, a charity that's here for the Ms. Community, for every ms, for every day. And we're here to provide clear, trusted information and support to help people navigate Ms. Every day. And today I am joined by Grace from our comms team. Hello, Grace.
- [00:31]
B
Hi, Helena. I'm really excited to be here and this is actually my first time co hosting the podcast, so thanks for having me.
- [00:37]
A
And it's a very special episode because it's actually our hundredth episode, so you picked a good one to join. Well, we're very happy to have you. And it is, like I said, it's a perfect episode to join, not only because it's the hundredth episode, but today it's going to be one that's a lot of learning about ms, I think, and we're going to be covering a question that we get asked an awful lot, lot, and that is, how is Ms. Actually diagnosed? Diagnosis can be quick for some people, but for many people it's a long and confusing journey with a lot of uncertainty along the way.
- [01:15]
B
Definitely. And we've seen that firsthand in our Facebook group. So we asked people to share their diagnosis stories and the responses really showed that it can be a confusing and difficult time. The amount of time that it took to get a diagnosis also varied greatly. There were people who waited years to be taken seriously, people who were misdiagnosed, people who thought they had other conditions, and many who were relieved when someone finally joined the doctor.
- [01:40]
A
Yeah, it was really interesting to read this thread in our group, actually. Here are some of the experiences that was posted into the group. One woman told us she woke up unable to feel anything from her chest down and was told that it might be a spinal stroke. Five days later, she was diagnosed with ms, given steroids and discharged with almost no explanation. Another person had spent years being told that their symptoms was just stress or migraines or just aging. By the time they finally got to see a neurologist who actually listened properly, they were already living with significant disability. And others, they experienced frightening neurological episodes, including things like vision loss, facial droop or numbness spreading across their body, but still experienced long delays before getting any answers. But there were also people whose diagnosis came completely out of the blue after having an MRI for something else, or like having hearing loss or back pain. And then there were actually people who's had positive experience as well, which was nice to hear. Quick referrals, good Ms. Nurses, and fast access to Treatment?
- [03:00]
B
Yeah, definitely. And what really stood out was not just how different these stories were, but also how much people wanted clarity. They just wanted someone to explain what was happening to them, what the tests were for and why a diagnosis can sometimes take time. Which is exactly why we wanted to make today's special episode.
- [03:18]
A
Today we're going to be joined by Professor Alistair Coles, who is a neurologist and Ms. Specialist, and he will walk us through, step by step, how the current Ms. Diagnosis process is working. And this will be from early symptoms that might suggest Ms. To the tests that are being done currently. And what happens if you don't get a clear answer straight away?
- [03:43]
B
Yes, we had the pleasure of spending an afternoon with Professor Alastair Coles at Adam Brookes Hospital in Cambridge. And personally, as someone relatively new to the world of ms, I learned so much from this chat. Let's listen to it now.
- [03:55]
C
We are here in Addin Brookes Hospital in Cambridge and we are here with
- [03:59]
A
Alistair Coes and we're going to be
- [04:01]
C
talking a little bit how Ms. Is diagnosed. Before we start, do you mind just telling us a little bit about who you are and what you're doing here in Cambridge?
- [04:09]
D
Well, thank you very much. So, I've been in Cambridge since 1994. I came here to do a PhD on multiple sclerosis and I'm a doctor and I've stayed here ever since.
- [04:21]
C
Shall we start? How was Ms. Diagnosed in the past? Because I'm guessing things have changed quite a lot.
- [04:27]
D
Things have changed hugely in how Ms. Has been diagnosed. And as will become clear, the motivation for all the changes has been effective treatments. So back in the day, when there were no effective treatments, we were really quite casual about the diagnosis of ms, and we diagnosed a lot of things that actually, when I look back, probably weren't Ms. And all that we needed back in the day were people who had two clinical attacks that look like they might be due to Ms. And we would say, that's Ms. And then along came MRI scanning. That was the biggest change and that's become more and more important in the diagnosis of ms, where MRI scans are available. Just need to remind ourselves that that's not always the case. And MRI scans have taken on more and more of the work of diagnosing them.
- [05:29]
C
Let's sort of go to the start of a journey that somebody who might be thinking that they have Ms. Yeah. What would be the first signs that might lead to an Ms. Diagnosis?
- [05:38]
D
Yeah, yeah. So people can have quite varied symptoms and that's one of the difficulties, and some of those symptoms can be quite common for other diseases. So, for instance, 5% of people with bladder problems in their 20s and 30s will end up as having Ms. When you go to your GP with your bladder problems, Ms. Is not the first thing you think about. So bladder problems is certainly an issue. Difficulties with vision, optic neuritis, the technical term is when people lose vision or have impaired vision over the course of a few days, it often gets better. And that's the other thing that makes this difficult, that if you're a bloke who's not paying much attention and the symptom comes on of dizziness or numbness for a few days and then gets better, you're probably not going to do much about it. So it's only when something a bit more dramatic happens that people go and see their job, copter, and that might be difficulty walking, sustained problems with vision, difficulty with balance, vomiting, that sort of thing. Very varied.
- [06:55]
C
That, that ring is very true to my own diagnosis, because I had problems with pins and needles in my foot for a long time and I just
- [07:02]
D
thought, whatever, everyone has it, you know, it's not a big deal. Yeah.
- [07:06]
C
And I didn't actually go until I ended up having temperature differences. So cold felt warm and warm felt cold, because I realized that this was certainly something that was too strange to not investigate.
- [07:18]
D
Yeah. And then, characteristically, people will go to their family doctor, their GP, with these symptoms, and GPs may not recognize these as being symptoms of Ms. And why should they be? I mean, your average GP will be involved in the diagnosis of Ms. 3 or 4 times in their entire career. So if you think about that, you'll realise you've got to be very astute as a GP to think of Ms. With that first visit. So it's often several visits before a GP's thinking, actually, we ought to get a neurologist involved.
- [07:52]
C
And how long does it usually take to be diagnosed? I mean, from what I hear, it's very, very varied.
- [07:57]
D
But it is varied. It varies in different parts of the country, it varies with the sort of person you are. So if you're middle class and articulate and living in Cambridge, it should be a matter of weeks. But if you're living in a coastal town and you're in a poor socioeconomic area, we know that it takes many more months. And that's just one of the many examples of inequalities in the way that people with Ms. Are treated.
- [08:28]
C
Are there any advice that we can give to people that sort of might find themselves in that part, say that part of the country where they actually feel like, well, actually, I got something else against me fighting the system here a bit.
- [08:40]
A
Yeah.
- [08:40]
D
I mean, I think it's our job, your job and our job to really raise awareness of Ms. And the importance of going to see gp, going to hospital and seeking attention when you have symptoms.
- [08:55]
C
Yeah. And I guess if that comes to a lot of people talking about it being sort of before, it was a white person's disease as well, and I feel like there's a lot of issues here around as well, that a lot of people just don't think that people who are not white get Ms. But that's not true at all.
- [09:12]
D
Exactly. It's like the myth that there's no Ms. In, for instance, India, because the rate of getting ms, if you're of Indian origin, is quite low. But there's a lot of people who live in India, so they're amount of people with Ms. In India is quite a lot.
- [09:27]
C
Yeah.
- [09:28]
D
So we've got to always remember that.
- [09:30]
C
Yeah. We sometimes say Ms. Doesn't discriminate and neither should you. And I guess that's the case.
- [09:38]
A
So what makes Ms.
- [09:39]
C
Particularly tricky to diagnose?
- [09:41]
D
So I think it's this variation in the symptoms and the fact that to begin with, they're transient, so just as someone's getting worried about this or that symptom, they usually get better to begin with. And so, you know, people reasonably think, well, it's gone away, everything's fine. So that's one of the issues. I think that Awareness amongst GPs of neurological problems as a whole is low. And that's very understandable because they're seeing these with less frequency than more common things like backache and fatigue and so on. And some of the symptoms are really very diffuse in general, difficult to pin down. Fatigue is a good example, which is a very prominent symptom early on in ms, but of course, in the age group we're talking about. So typically a woman who may well have children, living a busy life, you know, fatigue is not unexpected in the ordinary population. So there's a lot that makes it difficult for people to recognize these symptoms as being part of a serious disease
- [10:50]
C
like Ms. You need all the little pieces of the puzzle.
- [10:53]
D
Yeah. And a high degree of suspicion and a willingness to refer on to a neurologist for their opinion and tests.
- [11:03]
C
Because sometimes we do hear that people have. That they might know someone with Ms. Or they have a family member with Ms. And they've gone to say their GP to ask them and they sort of say, no, that doesn't seem typical and they don't want to be referred. Have you got any sort of advice to people who really feel like, well, I'm pretty sure I would want to be seen by.
- [11:21]
D
Yeah. I think if your concern that you may have Ms. Is sustained, is persistent, then I think it's very reasonable to have that concern addressed properly. And that probably means seeing a neurologist. Now, you may well be concerned because you're hyper anxious, because you have a relative with Ms. And so on, but that's a serious problem in itself, isn't it?
- [11:45]
C
Yeah.
- [11:45]
D
Even if you don't really have symptoms, it's important that that concern is addressed. But I would say if you do have a sustained concern, do you have ms? You should politely and persistently request to see a neurologist.
- [12:00]
C
And as we just mentioned, family, if you do have a family member with ms, it's your prevalence higher to have Ms. Yeah.
- [12:07]
D
So very marginally so. Just to be clear, Ms. Is not one of those diseases where, if you're affected, half of your children will be affected. So that would be an autosomal dominant thing. So it's not that at all. Ms. Is one of those diseases like high blood pressure or diabetes, where there's a general trend in a family. So if you have diabetes, there may well be someone else in the distance. Family, if you have MS, there's about a 20% chance that in the distant family there'll be someone affected. There's that sort of rate. So it's understandable, particularly if that person is known to have Ms. And is quite disabled, that someone might feel anxious if they themselves have it. And I think that should be taken seriously.
- [12:54]
C
Yeah. When should someone with neurological symptoms see their GP or ask for a referral to a neurologist?
- [13:00]
D
But I think anything that's sustained over a couple of days that is hard to explain, in particular, if it's disturbing everyday function or work or anything like that, then go to see a gp.
- [13:14]
C
Let's say that the person have got an appointment. How can they prepare for seeing someone like yourself?
- [13:20]
D
Yes. So you're probably going to have 20 minutes of real interaction with this neurologist and it's in your best interests to be really well prepared for that. So to prepare by knowing what's likely to happen. And of course, that's what we're talking about today, but also preparing in what you're going to say, so be clear about what you feel has happened both with this current episode of symptoms. Any symptoms in the past can be helpful to write it down and make notes for yourself and also make notes of the questions that you want to ask. And if you're anxious that this is ms, then I think it's important to say that, make it really clear that that's your concern.
- [14:03]
C
Let's talk about the tests and diagnostic criteria. So obviously, people who listen to this might be completely new to the world of ms, or they might not know anything. For us, people who've been in the world of Ms. For a while, we hear the talk things about the McDonald criteria and all these things. What are the McDonald criteria and why are they important for an MS?
- [14:23]
D
Yes, just before we embark on the McDonald criteria, I mean, just to say the obvious thing, which is that people have been diagnosing Ms. For over a hundred years. We did that before the McDonald criteria. We did it with reasonable accuracy, without McDonald criteria. So this is a kind of bolt on sophistication, which we'll talk about. But the majority of the work in diagnosing Ms. Is just talking to someone and listening to what they've got to say about their symptoms. And the neurologists will be asking themselves, is this a typical symptom? I'm used to hearing from someone with Ms. And then examining that person, examining their vision, the way they move their face, the way they walk, maybe move their arms and legs, having their reflexes tested and their sensation tested, all looking for signs of damage in either the brain or the spinal cord. So if you find someone who's had two attacks of symptoms that are typical for Ms. That you recognize as a neurologist, you've heard before, you examine someone and they've got signs of damage to the brain or spinal cord in a way that's typical for Ms. You're a long way towards diagnosing Ms. Well before you've invoked any criteria. So the MacDonald criteria, named after Ian MacDonald, who's a person, a neurologist who lived and worked in London at Queen Square and did fantastic research. And in 2001, he led a committee that was designed to come up with criteria to establish a firm diagnosis for Ms. For people going into research studies. That was the important aspect there. It was making sure that anyone going into clinical trials or in a research study definitely had Ms. I'm told that Ian MacDonald actually was rather sleepy during one of these meetings and slept through quite a lot of it and woke up to find that his criteria had been written out. I mean, who knows the truth of that? So what the criteria do is try and make things operational that people have been doing in the past. And so those early criteria were really saying much what I've said. We need one clinical attack, followed by another clinical attack, followed by signs on examination that the brain or spinal cord has been damaged, then you can say someone has Ms. And the MRI scans were used as evidence for attacks of Ms. Of inflammation in the brain that the person may not have experienced. Because we know that for every one attack, someone will have had five to 10 areas of scarring in the brain from inflammation. So you can have someone who's had one or two attacks, but their MRI scan shows that they've had lots more inflammation in the brain and that reassures you that they've had multiple episodes of sclerosis. Multiple sclerosis. So that's how this all started. And there've been multiple iterations of the McDonald criteria, the last being in 2024, which we'll come on and talk about. They're designed to do two things. Firstly, to make the diagnosis of Ms. As accurate as possible, make sure that we don't tell someone they've got ms, when in fact they don't. And in particular, we don't put someone in an Ms. Trial who doesn't have Ms. And secondly, to diagnose Ms. As early as possible. And both of these things have come about because we have effective treatments now, which we barely did in 2001. So now we're pushing to get people onto effective therapies as early as possible to get the maximum benefit. But we also don't want to expose people who don't have Ms. To all of the side effects. So those are the two challenges, being accurate and diagnosing Ms. So what we've ended up with in this latest version is that it's even possible to diagnose Ms. In someone who has had no symptom. And you may think, well, that's a bit strange, yes, but think of it a bit like breast cancer or prostate cancer. Wouldn't we want to be able to diagnose those things really early, even before they caused any symptoms? And that's the whole point of the screening test for breast cancer and prostate cancer. So the world of Ms. Has moved in that direction. We're saying our treatments are so effective, we want to get at people before they've even had symptoms. So some people will have heard about radiologically isolated syndrome, long word, which is when people have MRI scans for completely other reasons, like they've got a headache or they're in some research protocol for something or other, and lo and behold, they're on. The scan looks like areas of scarring that we would say is typical for Ms. And with one or two criteria that you have to tick, it's now possible to say you have the biological disease of ms, even though you've had no symptoms. And therefore we're going to say you've got Ms. And we're going to start to talk to you about treatments for Ms.
- [19:53]
C
But previously, if this would have happened, you would have had to wait and see if there was attacks.
- [19:58]
D
Yes, yes. And we put people in a very awkward position of saying, look, it looks a bit like ms, but we're not sure. We can't say it's Ms. Because you haven't actually had any damage. We're going to have to wait for you to have an attack, the damage to be done, and then we'll say you've got Ms. Now we can be much more positive. We can say you have the disease of Ms. The question of whether we then put someone on treatment is another matter, but at least we've made the diagnosis really early.
- [20:29]
C
That is one big change then.
- [20:31]
D
It's a huge change. It's a huge change. The other part of the new criteria is to say, let's make the diagnosis of Ms. More accurate. And so here, for the first time, there are some warnings about groups where it's easy to make a mistake if someone's aged over 50 or is a child. The criteria now say, be very careful about diagnosing Ms. And think of other things. And we will ask for a higher threshold of evidence before we say you have Ms. And I think that's really helpful because we know that more mistakes are made when people are aged over 50, because brain scans in people in that age group, like me, can show some odd blobs and some scarring here or there for other reasons, and it'd be easy to misinterpret those as the scars of Ms. And in children, there are a range of other diseases that can cause inflammation in the brain that is not ms, and we're really encouraged under the new criteria to look for those. And one in particular is Mogul Associated disorder mogad. MOGAD is a disease that has been identified quite recently, in the last 15 years or so, which in the past we would have diagnosed as being Ms. But what we now realize is that there's an antibody in the blood of these people. They can be adults, but often are children, which is directed against one of the myelin proteins called mog. And so this is an antibody mediated disease that looks a bit like Ms. In fact, when you start to look at it carefully, it is a bit different, but certainly is one of the things that we mistook for Ms. In the past. So now if you're a child and we think, oh, could this be ms? We're obliged now to test for MOG antibodies before we can take it further. So ADEM is again, one of these diseases that we're really unpicking over time. So ADEM is a disease where people have lots of inflammation in the brain all at once in one moment and they can be really unwell and come into hospital and even be on intensive care. And back in the day, some of those we would have diagnosed with ms, but we now know that in children with adem, the vast majority will have this antimalg antibody.
- [23:07]
C
If you're meeting these criteria now and you're looking at doing tests.
- [23:13]
D
Yeah.
- [23:14]
C
What tests are most commonly done?
- [23:17]
D
So the most useful test to diagnose Ms. Is an MRI scan of the brain and potentially of the spinal cord as well. And obviously we're in a country where that can happen easily and that's, I would say, mandatory now in this country to be diagnosed with Ms. So an MRI scan, probably you would have blood tests as well. And there'll be two reasons for doing that. One is that there's some blood tests looking for diseases that can mimic Ms. And the other reason is that in the back of your neurologist's mind, maybe they're thinking, oh, we're likely to start treatment on this person some weeks or months from now. Why don't we do some blood tests to check that they're safe and healthy, to have the treatments that we have in mind? So there might be quite a few blood tests looking at things like, are you immune to measles, mumps and rubella? You know, and that isn't about the diagnosis, that's about whether you're fit to have treatment later on. So those two things I think would happen with everyone, MRI scan and blood test. And it may be that you don't need any further. But the other tests that people will be thinking about would be a lumbar puncture that obviously creates a lot of worries, which we can talk about. And then tests of vision, visual evoked potentials and oct, optical coherence tomography. So those will be in the back of the mind of the neurologist as they're talking to you.
- [24:47]
C
And you mentioned optic neuritis before. Isn't also that one of the New parts of the criteria.
- [24:53]
D
Yes. So if we go down into the details now and we think about the idea that in multiple sclerosis we want to see multiple areas of the brain and spinal cord affected, one question is, well, what areas do you want to see? And so always there's been a kind of list of what areas we would be expected to see damaged in Ms. And whatnot. And typically those would be spinal cord around the ventricles of the brain. That's the fluid containing compartments where Ms. Lesions typically congregate around the edge on the near surface of the brain, juxtocortical near surface of the brain. These are albe typical sites. The News for the 2024 criteria is that the optic nerve is now one of those typical sites. To be honest, it's a bit daft that it was never sight recognized in the past because we know optic neuritis is common. So on a scan or on tests of your vision or on looking at the retina oct, we can now say this person has had damage to the optic nerve in the past. We can tick off that as one of the sites that's typical for Ms. So if we wanted, if we were looking for just one other site affected, we could say, oh, they've had that, they've had the spinal cord tick. That's two sites affected. And that would fulfill one part of the criteria for MS.2 sites.
- [26:33]
C
So that is still what you need, you need two.
- [26:35]
D
So what we need to do is we need to demonstrate normally that this disease has affected two or more sites, multiple sclerosis at different times. And the kind of standard term for this is dissemination in space and time. Two different sites, space at different times, dissemination in time. So to show different space, dissemination space. There's two sites from a list of sites that now includes optic nerves to show change in time. That can be the clinical account of two different clinical attacks. It can be another scan done three months later which shows a new lesion, or it could be a lumbar puncture. And now in the latest iteration of McDonald criteria, it even goes one further and says if you've got four sites affected. So multiple sclerosis in four different sites, that is so typical of ms, you don't even need to worry about showing dissemination in time. This scan is so typical, you can call it Ms. Now, it gets quite complicated.
- [27:51]
B
It does.
- [27:52]
A
Quite complicated, doesn't it?
- [27:53]
C
I mean, but will this mean that it should be easier for people to get diagnosed?
- [27:58]
D
The hope is that people get diagnosed earlier. It actually is not easier for the healthcare staff, it's become more difficult, which we can talk about. So ease is not, perhaps, the best word. The best word is that people should get diagnosed earlier. And that, of course, is really good news because it means that we can start talking about treatments and then get treatment in earlier. And of course, that fantastic, because we have treatments that are effective.
- [28:26]
C
When people read about, you know, meeting the neurologist they call fancy that, they're going to have a neurological examination. But what does that mean?
- [28:34]
D
Yes, it's not a great term, is it? So exam is there for examination, where the neurologist is going to test your vision, eye movements, the strength in your arms and legs where you walk and your reflexes. So this will be done at that first consultation. It'll probably be done in the same room. You may end up lying on a couch. You won't have to take your clothes off. And the neurologist will be able to examine you through your clothes. And it'll be five or six minutes. And you'll be asked to follow something with your eyes. They may look into your eyes with a bright light and then get you to move your arms up and down against resistance. And then your reflex is tapped with those hammers, you know, you remember the one on the knee, and then scratch the bottom of your feet and then maybe check the sensation in your arms and nerves.
- [29:25]
C
So they're really not anything to be nervous about.
- [29:28]
D
Really straightforward.
- [29:29]
A
So we talked a little bit about MRI scans.
- [29:32]
C
How can they contribute to confirming or ruling out Ms.
- [29:36]
D
In the diagnosis of ms? MRI scans are really helpful in making sure the diagnosis is accurate. And I've described a couple of ways and I'm going to add a third. So I've already said that MRI scans are really helpful at showing how many lesions and how spaced out they are multiple for multiple sclerosis, but also whether they're in typical areas of the brain. The third way, and this is new in the 2024 criteria, is that MRI scans can actually show you areas of inflammation and scarring that are typical in their shape and form for Ms. And so here we have the central vein sign.
- [30:14]
C
Oh, yes.
- [30:15]
D
And the paramagnetic rim lesion. These are very complicated thing. So if you look down the microscope at any area of Ms. In the brain of someone who's died, you will see that a fresh patch of inflammation always arises around a vein. So you'd expect to see a vein in the middle of this inflammation under the microscope. Now, MRI scanners are so good now that you can occasionally see that in the brain of a living person, if you see a vein in the middle of a patch of inflammation in the brain of someone, you can say, well, that's very likely to be Ms. It's not like a little stroke or anything like that. And even more so, paramagnetic rim lesion has some iron around it and that is very, very sensitive as a marker for ms, not other drugs, diseases. So the new criteria say, well, if you see one paramagnetic limb lesion, that's telling you this person has ms, that's pretty slam dunk. If you see six lesions with a central vein, in a central vein side, that's very likely they've got Ms. So these are new criteria that make it more accurate in the diagnosis of Ms. It also is much harder for the radiologist to look for these things.
- [31:38]
C
Can all MRI scanners pick up on these things or is it just the super duper ones?
- [31:43]
D
It's a combination of the scanner expecting to find them, so using the appropriate physics in the scan, but also the radiologist having the time and the expertise to identify them. And the truth is that in a lot of parts of the country, the scanners won't be programmed to pick these up and the radiologists will not be trained to pick these up. So this is one of these areas where the new diagnostic criteria which are so good in their intention, are actually causing quite a lot of difficulty. And it may well be that these two particular signs are actually used in the minority of centers diagnosing Ms. And
- [32:24]
C
is this something that AI could help with reading?
- [32:27]
D
Yes, I think that would be, you know, I think that's likely to be the answer. So already there are systems being tested that will automatically look at a scan and try and tell you if there is a central vein sign or a paramagnetic ruin lesion. Now, we're yet to have confidence that they will do that as well as a really well trained human. But I think this is the direction of travel.
- [32:51]
C
So we mentioned lumbar punctures.
- [32:52]
D
Yes.
- [32:52]
C
Why are these needed and why do we do them?
- [32:55]
D
Yes, I mean, they've gone up and down in their use in the diagnosis of Ms. When I first started out back in the 1990s, we always did a lumbar puncture because it was at that stage one of the most sensitive tests. Because you would expect 90 to 95% of people with Ms. To have an abnormal result. We'll talk about what that means. So if it was normal, you'd think, oh, this is unlikely to be Ms. So we did it a lot. And then MRI scanners came along and they were so good we thought, well, perhaps we don't need lumbar. But then they came back and they came back with a vengeance. So we're doing them more and more. The reason is partly to provide confirmation of the diagnosis in that, again, if the results are normal, that's an indicator that you may not be dealing with someone with ms, but also because we're using that abnormal result when we find it as a alternative, looking at changes in time. If you remember, we're trying to find a disease that has multiple sites affected over multiple time points. If we see multiple sites affected and the lumbar puncture is abnormal, it tells us we don't need to worry about seeing further events. We can say at this time you have Ms. So that's why it's coming, because we can make the diagnosis of Ms. Earlier. So that's why we're doing them more frequently now. And especially in the case of people with progressive ms, people with primary progressive ms, where you have one site affected, usually the spinal cord, people getting slowly worse and worse and worse without distinct attacks, it's really hard to say. There's been a new thing in time that we use lumbar punctures as a alternative that dissemination in time criteria. So we're doing it more and more in primary progressive Ms. And what is
- [35:00]
C
it you're actually looking for?
- [35:02]
D
What we're looking for is this phenomenon that's been known about for over 100 years, which is that people with Ms. Have a lot of antibodies in their spinal fluid that you don't find in the blood. And that implies that there's something immunological going on around the brain and the spinal cord that's spilling over into the spinal fluid. However, the techniques that are used are a little different. The old fashioned gold standard technique will demonstrate oligoclonal bands. That's the phrase that you often see. And that simply describes the appearance on a gel using something called isoelectric focusing of these different antibodies appearing in different lanes. And there's a few of them oligo, and they're bands because they're on these lanes on a gel. So oligochymal band. Now that's a very good technique. It's actually quite hard to do. It takes a trained person many months to learn how to do it effectively. And one of the new things of the 2024 criteria is that we can now use a different technology to identify the same phenomenon. And this technology comes in a kit this is Kappa Light chain analysis. There's a kit that you or I could buy and put a bit of spinal fluid in and it'll give us a result. It's not quite as easy as the COVID test that we used to do during COVID but it's kind of that same easy kit that you can buy and it'll give you a result. And so this means that it's much easier for labs to set up as an Ms. Diagnostic center because they just have to buy the kits in and not have trained personnel.
- [36:44]
C
And is the sort of the procedure of doing the test similar or is
- [36:48]
D
it the lumbar puncture itself is exactly the same that the spinal fluid then goes off to the lab and then it's completely different. What then happens, whether it's the old fashioned technique requiring time and expertise or the new technique requiring someone who can just read the instructions through a kit.
- [37:06]
C
And we do know a lot of people are worried about lumbar function because
- [37:12]
A
it does sound scary on paper.
- [37:14]
D
It does.
- [37:15]
C
When you talk to people, you get very varied. Some people say it's the worst thing that they've ever done. Some people say it was nothing.
- [37:21]
D
Indeed. Indeed.
- [37:22]
C
Will you talk us through what actually is done?
- [37:25]
D
Yes. This won't be done at your first appointment. That's the key thing. So don't be worried that you're going to go to that first consultation and someone's going to suddenly stick a needle into you. So it'll be a separate occasion. It may not happen. You'll get warning, you'll be given advice, you'll be told what's going to happen, you'll come back and you should put aside a day for this to happen. You'll go to a hospital type setting and there you'll lie on a couch and a doctor or a nurse will come along, explain what they're about to do. Then they'll put some local anaesthetic at the base of your back and that will numb the area. And then they'll put a long, thin, very thin needle through the skin which you'll barely feel, and then between the vertebrae, the bones of your back and slip it into the fluid containing sac at the bottom of your spine where there are no nerves. That's a key thing. It's just fluid. And then they let a few drops of fluid go into a few bottles and then pull it out. So if it all works swimmingly, it's done and dusted in 10, 15 minutes. And then usually people are asked to lie flat for an hour or so, and then they can go home. That's it. All going swimmingly. Now, what can go wrong? What can go wrong is that it can be difficult to do, particularly in older people, where the back is. The bones of the back are a bit worn out. It can be hard to find that little area. So some people find that it can take two or three attempts before the success, or that there's no success at all. And that can be quite traumatic, both in terms of the feeling of it, but also the feeling that the outcome, that we haven't achieved what we wanted to achieve. The procedure can go fine, but then you can get a side effect. And the most common side effect is a headache. And that might happen in 10 to 20% of people. And it's a very particular form of headache because it's a headache that gets worse if you stand up and gets better if you lie down. And the simple way to think about this is that if you've taken some fluid out of the spine, there's less fluid also around the brain. If you stand up, your brain gets a bit dehydrated. Not very scientific. If you lie down, the fluid washes over the brain again and you feel bad. Now, the way this normally works is that people get better after a few days without anything. So almost always people say that the experience was far better than what they feared from a lumbar.
- [40:10]
C
So you already said lumbar puncture was very in fashion and not in fashion. When I was going through my diagnosis, I didn't have one, so clearly not so fashionable back in 2006. Yes, but with the new criteria, are we likely to see less of them
- [40:27]
D
or I think, possibly marginally less. And the reason for that is that we now have this new clause where if an MRI scan looks so characteristic of ms, with four areas typical for Ms. Obviously involved, then we don't need to do any more. We don't need to demonstrate that multiple episodes, the dissemination in time. So that's taken away the need for a lumbar punctuation at that point, but we'll still see quite a few when the MRI scans aren't the slam dunk that I've described, or someone has a progressive syndrome and might have primary progressive Ms. So I think lumbar punctures are here to stay for a long time. If you're over 50, it's very likely that your neurologist will request a lumbar puncture, because that's when the MRI scans become less useful diagnostically and the neurologists will Be looking for other ways to confirm this is Ms. Why is a
- [41:22]
C
lumbar puncture particularly good then for diagnosing progressive ms?
- [41:27]
D
Yes. So the problem in progressive Ms. Is that the person who has that form of the disease has one area affected, usually the spinal cord, causing problems with walking, typically. And that gets very slowly worse. And you can't indicate the spread over time of this disease because there's not another attack affecting another site. And so that's when it's really helpful to have the oligoclonal bands or kapha free light chains demonstrated on a lumbar puncture, saying this is Ms. And it's an ongoing disease, so you have activity in time.
- [42:05]
C
Let's move on to another test, which you did mention briefly at the start, and that's their visual evoke potential.
- [42:11]
D
Yes.
- [42:12]
C
What is that?
- [42:12]
D
Well, I mean, this is really interesting that this has suddenly come back because I can tell you we haven't done visual effect potentials for the diagnosis of Ms. In a good 20 or 30 years. Again, when I started in the 1990s, it was quite a common thing. We didn't have MRI scans and we were looking for signs of damage in parts of the nervous system that weren't obvious on examination. And one of them was the optic nerve, which we've already spoken about. The visual evoke potential is a test that very sensitively shows you if there's been damage to the optic nerve and if it was positive, you then say, aha. So they've had an attack of the optic nerve in the past. Now I'm seeing them with spinal cord problems. This is adding up to someone with two areas affected by the disease, one back in the past, one now. This is likely to be Ms. So that's how the logic would go. And then MRI scans came along, they were so much more sensitive and we said, we don't need VEPs anymore, we just don't need them. But now we're moving to trying to diagnose Ms. Early and we're trying to make sure we find evidence that any site affected in the brain or spinal cord that we possibly can so that we can make the diagnosis as early as we possibly can. We can. We certainly look on an MRI scan to see if the optic nerve has been affected, but actually MRI scans are not that good at looking at optic nerves. The VPs have suddenly come back again to say, do a VP and if it shows damage to the optic nerve, that's one typical site affected. We only need one other site affected and a lumbar function, we can make the diagnosis of Mr. So that's why they've come back in again. A VP is not something that will happen on your first consultation. It needs to be booked in, so don't worry that it's going to be. You're going to be attacked to examine your vision. So this is a test which is painless. No needles are involved. It takes an hour or so from start to finish. And what happens is that you'll sit in a darkened room looking at a flashing chessboard light, and you'll wear electrodes on the back of your head. And the operator, who's usually not a doctor or a nurse but a technician, will be measuring how quickly your brain responds to the lights.
- [44:33]
C
And if you want to see what this looks like, if you're listening to this as a podcast or if you're watching the video, we do have some videos that we will link to in the. In the show notes for explaining how that was done. I've had all them. The electrodes. So stuck in my hair.
- [44:46]
D
Exactly right. That's the worst bit of it. It disrupts your hair. Not. Not a problem for me.
- [44:53]
C
So you mentioned blood tests.
- [44:54]
D
Yeah.
- [44:55]
C
And how they rule out. But. But there's not a blood test that you can take to find out whether you have ms?
- [45:00]
D
No. So there's no blood test that positively says you have ms, but there are blood tests which, if they were positive, you'd say, aha, maybe we're dealing with another disease. So an example would be a test for lupus, an ANA test. If that was positive, that would make everyone think, aha, let's just make sure this isn't lupus. B12 vitamin B12 deficiency can look in some ways a bit like Ms. So again, that's an important test to do. In some parts of the world, doing an HIV test is very important because that, again, can cause something like ms, optic neuritis and so on. So depending on where you are in the world, depending on your age, there are mimics of Ms. That can be revealed by blood tests.
- [45:46]
C
We spoke about eye things, but this is, for me, I think, a bit of a new kid on the block that we've heard about. The optical coherence.
- [45:53]
D
Yes. Oct. So it's a very long phrase that many people who have been to their opticians will have had an OCT, actually without realizing it. So the experience is you're. You're made to sit in one of those things at the optician with your chin resting on here and someone shines a very bright light. At your eyes and makes you look in this direction or another, it's completely painless. No needles are involved. And what the operator is doing is looking at the retina with something a bit like an ultrasound, so it can look at the layers of the retina and then you get a picture, a beautiful picture of the layers of the retina. And you may say, well, what on earth has that got to do with ms? Well, what it's got to do with Ms. Is that you can see the nerve fibers that run in the optic nerve, the nerve fibers at the back of the eye. And if someone has had optic neuritis in the past, it's likely that some of those nerve fibers will be damaged. And so that layer of the retina will be thinner than you would normally expect. But the operator is looking for whether that nerve fiber layer is thinned or not. And if it is, and there's a kind of whole algorithm for defining whether it is or it isn't, then you could say, this person has had optic neuritis in the past, and this is important just for the same reason that a visual evoke potentially is important, because it tells us that that particular site has been affected. We now just need to have one other site affected, a positive lumbar puncture, and we can say this person has Ms. The OCT has suddenly appeared in the diagnostic algorithm, again because of this motivation to diagnose Ms. As early as possible.
- [47:45]
C
I think when I had optic neuritis, I did end up going to the optician and they actually did that on me then.
- [47:50]
D
Now, if you compare VEPs and OCTs, VEPs are more sensitive, no question, but they're done in very few places. Quite a specialist has to be booked up in advance, whereas OCTs are done in your local optician. So it may well be that we actually use OCTs a lot more than VEPs to diagnose past attacks of Ms. Just because it's a test that's really available, it's completely pain free to have, it's no trouble at all. So I think we'll be seeing more of that.
- [48:21]
C
Say that you get a diagnosis.
- [48:24]
D
Yeah.
- [48:24]
C
What happens next? Like if your tests are inconclusive, for instance.
- [48:30]
D
Yes.
- [48:31]
C
What happens then? I mean, we have different paths here.
- [48:34]
D
Yes. So you go through this pathway of having all of these tests and the outcomes are likely to be one of three things. You definitely have ms, you definitely don't have ms, and you may have something else, whatever. Or the third outcome is the tests. My examination, my assessment did not lead me to make a definite diagnosis of Ms. But that could be something that emerges and we need to wait and see. And I was just thinking, before today, I think I've got three or four people in our clinic who are in that situation waiting for things to happen. And by that I usually mean for another scan. That would be typically what we do. We'd wait for six months or a year, repeat a scan and see, well, has things evolved in a way that's typical for Ms. So that's a very difficult situation, isn't it, that you're told you might have this serious disease, but you don't definitely have it. We can't get on with treatment, we can't get on with giving you all the advice about your life. So it's a bit of a limburger state.
- [49:44]
C
We have a podcast completely covering the limbo states as well. And I think it's a really important one too. Maybe revisit if you're listening to this and that's where you're finding yourself.
- [49:53]
D
Yes. And I. I don't like it. You know, I think neurologists don't like leaving people in that limbo. We like to make a definite diagnosis and then go on.
- [50:02]
C
Yeah.
- [50:02]
D
The reason that we don't always do that is because, as we'll talk about, the consequences of the definite diagnosis are pretty significant and we don't want to put people through that. And then a year later say, well, actually we got it wrong, you don't have Ms. So we want to be really sure when we say someone has ms, that is the case.
- [50:23]
C
Somebody is told that they definitely do not have Ms.
- [50:26]
D
Yes.
- [50:26]
C
Well, then they go back to the GP and get other tests done, because something is assuming.
- [50:31]
D
Yes. Anyway, so I think, you know, there will. There will be a group of people who don't have anything wrong and they're there because they're anxious. And actually, to be told you don't have Ms. Is very reassuring and that's the end of the matter. But there is a group, there's another group of people who definitely have something wrong with them, but it's not Ms. And it's the neurologist's job to then take things further and try and define what is wrong. So that would probably lead to other tests or referrals to other doctors and so on.
- [50:59]
C
And for the people then who definitely have ms, what's the next steps here?
- [51:02]
D
Yes. So I think there are two different issues that need to be addressed at the same time. So firstly, someone who's just been diagnosed with ms, as you well know, then has all sorts of questions bubbling up. Is this going to affect my children? Is this going to affect my occupation? What does the future look like? Should I go on a special diet? Should I stop smoking, start smoking? All sorts of questions. And I think it's really important that someone in that situation gets offered information from trusted organizations, but also personalized, ideally from an Ms. Nurse or someone who understands Ms. Well. So that's a general education piece, but alongside that, and this is the whole point of diagnosing early, the next question is, is this person eligible for treatment? Shall we start treatment? Shall we get on and give an effective therapy? And I think those two things have to happen at the same time. We try and get treatment started quickly and some people say, well, what does that mean? And I think it's important to give a time span that's over months, it's not weeks or days. So it would be very unusual to go for your first appointment with a diagnosis and a mess and come out with a treatment that'd be very unusual.
- [52:28]
C
Without going in too much about talking about the treatment options we have, we can link to more things about that. People are interested in that.
- [52:35]
D
Yes.
- [52:36]
C
But we do sometimes see people who are diagnosed and then they're in a bit of a wait and see before they can start treatment and they get a bit panicky.
- [52:42]
D
Yes.
- [52:43]
C
Can you talk us through a little bit? What if there. Is there a need to worry if you're not starting treatment very quickly?
- [52:49]
D
Well, let me give you some time scales and I think this is helpful. So I think it's good to get started on any treatment within a matter of months, not weeks or days, within a matter of months. And there are various sorts of treatments that this could be. And the key time point for me is five years after the first symptom. We know that if you're going to be on a highly effective treatment, most effective if it's given within that time, five years from the first symptom. So if you had a first symptom a year ago and you're now diagnosed with ms, you've got four years in which to explore treatment. You might want to start off with someone that's moderately affected, where the side effects are benign and think, well, maybe if this does the job, I don't need another treatment, but I've got four years in which to move up to a higher effective treatment and I'll still be as well off as I could. So I think that's the time scale
- [53:48]
C
that we're Talking about, if you're not formally diagnosed with ms, can treatment ever start before then?
- [53:55]
D
No, I think this is the big issue. I think it's very dangerous to start a treatment without a clear diagnosis because you could end up, and we have all done this, we've all, as neurologists, made mistakes, give people highly effective therapies. Turns out they don't have ms, treatment's not helped them, they've just been exposed to harm and that's a very bad situation.
- [54:17]
A
If someone is diagnosed with ms, what
- [54:20]
C
should they expect next?
- [54:21]
D
I would expect someone who's diagnosed with Ms. To be told at that meeting, there'll be two further appointments for you. One will be with an Ms. Nurse or a therapist, very experienced with ms, who'll talk to you about the disease in general and answer all your questions. And another will be an appointment where we talk about treatments. Are you eligible for treatments? What are the treatments that you're eligible for? What would we recommend? Those are probably likely to be two separate events.
- [54:50]
A
I want to say thank you so
- [54:51]
C
much for talking to me today. I just want to, like the last question, if I may. If somebody who's listening to this think, well, I have read off a lot about ms, I think this, this might be me. Have you got any sort of advice for them about how to approach their gp?
- [55:06]
D
I think anyone who's worried about the diagnosis of Ms. Persistently, so this is a worry over days and weeks, I think that worry deserves to be addressed. Even if it turns out that they don't have ms, I think that worry in itself is enough to seek further attention. So I think, go to the gp, explain you're very worried, explain why. Maybe because you've had a bad experience of a friend or relative with Ms. And you feel you've got the same symptoms and ne GP will understand that and will make an appropriate referral. And it's a very common thing for us to see someone who's worried they have Ms. We have a low suspicion, we may well arrange an MRI scan which may well be normal. And we can say with complete confidence you don't have Ms. And that can transform someone's life and it's a long term thing that's that done. It's not likely that Ms. Will suddenly appear in the future. It's a one off, really helpful intervention.
- [56:09]
C
And likewise, if people do end up having Ms.
- [56:12]
D
The earlier, then they're diagnosed early and they'll be talking very soon about, about treatments to go on which will make a long term difference.
- [56:20]
C
Brilliant. Thank you so much for talking to me today.
- [56:23]
A
Before we continue, I just wanted to say that we've recently updated our How Ms. Is Diagnosed information on the Ms. Trust website. And if you'd like to understand more about the tests we mentioned today, like MRIs, lumbar punctures evoke potential or OCT, you can now find clearer explanations and short, short videos showing exactly what happens during each test. Just head to mstrust.org.uk how is Ms. Diagnosed? To explore the full guide.
- [56:54]
E
Hi, I'm Ellen and I'm the individual Giving manager here at The Ms. Trust, Ms. is something that's very close to my heart. A family member lives with the condition so I've seen just how much support, information and guidance can make a real difference. That's why being part of an organisation helping people with Ms. Every day means so much to me. Today's podcast has been exploring Ms. Diagnosis which can be a life changing moment. Many people need guidance and want to know where to turn for reliable information. And that's where the Ms. Trust comes in. From the very start, we provide clear evidence based information, practical support and reassurance for people with ms, their families and the health professionals supporting them. One of the most powerful ways to support us is through a regular monthly gift. Even a small monthly donation can help us plan ahead and make sure support is there whenever it's needed. Just a few pounds a month can help keep our Ms. Helpline running and ensure our trusted information stays up to date so no one has to face Ms. Alone. If regular giving isn't right for you, a one off donation can also make a real difference. If today's episode has resonated with you and you'd like to support our work, you can donate@mstrust.org or you can call 01462 536007. Thank you for listening and for supporting people living with Ms.
- [58:38]
A
I think that the, the visit up to Addin Brookes was extremely interesting. I mean I have worked for the Ms. Trust for many years but I still, you know, you keep on learning, you keep on learning all the time and to talk through all these things with Alistair. But we also, and we will link to these videos in the show notes. We went and spoke to another neurologist who demonstrated a bunch of tests for us which was really interesting to see. So we, we now understand how a lumbar puncture is done and how an OCT scan is done and we also have other videos there about MRIs. So these are also really useful content to look at. If you're interested in more about the diagnosis criteria. But, yeah, there's a lot to learn and I think Alistair is so good at explaining these things. I think with the changes that we've seen in the McDonald criteria, and if you're completely new to Ms. Or you don't, you know, this is maybe the first time you've ever heard about Ms. When you're listening to this podcast, some of these things might be kind of tricky to understand and get your head around. And I think the McDonald criteria has always been a tricky one. So to actually sit down with Alistair and have it explained and the new parts of it was really useful for me. What did you think about the day up at Edinbrookes?
- [60:02]
B
I think it was really great. It was great to see how we all work together. So it's not just the updated health information which is really useful. And like you say, Alistair carefully broke down all the things that you spoke about. So for someone that has, like you say, is quite new to ms, I still walked away understanding so much. He carefully broke down each thing that he spoke about, but didn't lose any of the, like, expert information that he offered. So it was really great to see that. And I think that alongside these videos that we've created for the scans will really help anyone going through the process of being diagnosed for ms, because it could be a minefield of all the information out there. And I think that's one thing that we've done really well for this podcast is collect information that will be really useful to people and to the point, you'll know what you're going to get from this information and it's really helpful to see it all laid out so nicely.
- [60:51]
A
Yeah. And like we mentioned at the start, it is a very confusing time to be going through. Any sort of clear information will really help. And I think if it's one thing that I would take away from this, it is the sort of importance of when you do see a health professional, your time is quite limited to talk to them, to come prepared. So bring your questions along, do the symptom diary and all these bits, because I think that will help you immensely to get your point across when you talk to a health professional. So I think, yeah, if there's one point to take, I think it's that one.
- [61:28]
D
Definitely.
- [61:28]
B
I agree. I think that's what we can do, is we can be there for people and help guide them so they're not going into these appointments feeling alone and they know what they're going to get out of them. And I think again in the videos and the podcast, that's what we break down really well. Things you need to prepare, things to be mindful of. So yeah, keep an eye out for those because I think they'll be really useful.
- [61:46]
A
I want to say a huge, big thank you to Professor Alistair Coles for joining us and for everyone in the Ms. Community to share their story as well. I mean, it's invaluable to read and I think for a lot of other people who are worried to read the stories as well really helps. And yeah, sometimes these stories are quite upsetting, but then you get other stories who are quite encouraging on how quick they were seen and you know, when the process goes right as well. So it's good to see and I think it's really important to share all these stories.
- [62:21]
B
And if you're going through this process yourself or supporting someone who is, remember, you don't have to wait for a diagnosis to get support. Ms. Trust Helpline is here for you Monday to Friday, 10am to 4pm on 0800-323-839 or drop us an email on askrust.org and you can also find trusted
- [62:42]
A
information on the Ms. Trust website, including information about MRIs, lumbar puncture, symptom diaries and preparing for your first neurology appointment. And you can also follow us on Facebook, Instagram, TikTok and YouTube for up to days and new content. You can also find us on LinkedIn if you would like to do that. And if you enjoyed this episode, please leave us a review and share it with people who might find it useful. And until next time, thank you so much for joining me.
- [63:11]
C
Grace, thank you for having me.
- [63:14]
A
So I want to say to everyone, take care and we'll see you in the next episode.
- [63:18]
C
Thank you.
- [63:19]
D
Thank you.
- [63:19]
C
Bye.