Episode 29

World MS Day 2024: Understanding MS Diagnosis Forum

Livestreamed on World MS Day, our ‘Understanding MS Diagnosis’ Forum featured MS clinicians, researchers and members of MS Australia’s National Advocates Program and Lived Experience Expert Panel (LEEP).

This informative and lively discussion explored the importance and future of early diagnosis and treatment in MS. Panel members living with MS shared their diverse diagnosis journeys.

The Forum coincided with the release of a new MS Australia report calling for faster MS diagnosis in Australia.

Host, MS Australia CEO Rohan Greenland and our five expert guests provide a deep dive into MS diagnosis, and we invite you to tune in!

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Episode Transcript

Voiceover: 

Welcome to the Raw Nerve, the official podcast of MS Australia, a conversation space for all things multiple sclerosis. Join us for news and views on the latest research, treatments, and advocacy efforts, as well as candid and informative interviews with our community, those living with MS and their families and carers together with leading clinicians, researchers, and advocates. 

Rohan Greenland

Welcome to MS Australia’s World MS Day Forum. Our topic today is the World MS Day theme of diagnosis. World MS Day is a day of global solidarity, collective action, and most importantly, hope.

This year, the theme is My MS Diagnosis, and we are advocating for early and accurate diagnosis for everyone living with MS. In today’s discussion, we are highlighting the barriers, to diagnosis and raising awareness by sharing the real stories of three people living with MS. In addition, we’re exploring the role of healthcare professionals in early diagnosis as well as new research and clinical advancement. So, without further ado, let me introduce our panellists.

First, the three people living with MS. Julie Lonsdale-Light is a member of the MS Australia Lived Experience Expert Panel. She lives in Kingaroy in Queensland, and works in the not-for-profit disability sector. Laura Birchall is also a member of the MS Australia Lived Experience Expert Panel. She lives in Canberra and works as a consultant in the health and aged care sector.

Amanda Kennedy is an MS Australia National Advocate. She lives in Newcastle and is a lecturer in the marketing department at the University of Sydney. We also have Associate Professor Vilija Jokubaitis is a group head of the Department of Neuroscience at the School of Translational Medicine at Monash University. And she is a clinical and translational neuro neuroscientist with skills in molecular medicine and biostatistics. And I’m very pleased to also have one of Australia’s very talented MS nurses and President of MS Nurses Australasia, Meaghan Osborne.

So my first question is to Vilija, how is MS diagnosed and why can it be difficult to diagnose?

Associate Professor Vilija Jokubaitis

Thanks, Rohan, for the question. So I guess to begin with it’s important to understand that multiple sclerosis is an autoimmune disease of the central nervous system and what that means is that for reasons that we’re still as scientists trying to understand the immune system of a person decides to attack the central nervous system.

So that’s the brain, the spinal cord, and the optic nerves, which connect the eyes to the brain. And so that causes a number of different symptoms that people might present with depending on whereabouts that attack occurs.So the reason or how MS is diagnosed is a bit of an iterative process. People who have MS might present with any number of different symptoms they might involve visual disturbance, for example, if the optic nerves are affected it might affect somebody’s movement if their spinal cord is affected or it might in impact, say for example, sensation or that sort of thing.

And very often when people first are diagnosed with MS, they might present with symptoms that are quite mild. Clinicians or doctors – they have a set of criteria that are used to diagnose multiple sclerosis. And these are called the McDonald’s criteria. And they set out a number of different guidelines that tell neurologists whether or not somebody is likely to have multiple sclerosis. They’re not a hundred percent perfect by any stretch of the imagination, but they’re the framework within which neurologists need to work. Some of the main criteria that need to be met in order for a person to have a diagnosis of MS is after having an MRI scan done of their brain and of their spinal cord, and after speaking to a neurologist, there needs to be evidence that their symptoms have occurred on more than a single occasion.

So this is what neurologists call dissemination in time. So there needs to be a time course involved, but also, the lesions need to occur in different parts of the nervous system, so are different regions of the brain or lesion in the brain and in the spinal cord.

So, it can be quite difficult to come to a diagnosis of multiple sclerosis because people, when they first present with symptoms that are suggestive of MS, may not necessarily fulfill all of these different criteria. So, they might have a single attack, but there’s no history of previous attacks, which is necessary for a diagnosis. Or they might have lesions in a single part of the brain and maybe some nerve disturbance or some visual disturbances, which a trained neurologist would suspect that that is likely to be an MS diagnosis in the future. But unfortunately, at the moment, the criteria don’t include, say, for example, visual disturbance is in that criteria. So it can be hard to get to that diagnosis.

Rohan Greenland

Thank you for that. Meaghan, why is an early diagnosis so important in MS?

Meaghan Osborne

Thanks for the, the question as well, Rohan. Early diagnosis is really important. It’s obviously really valuable to the person with MS, to get some clarity, and also, a pathway, a clear pathway of how to deal and manage and own that disease. But I guess from a clinical perspective early diagnosis is really important for treating the disease really effectively.

So we need to diagnose it first and accurately to be able to use the right disease modifying therapy for that particular person. We wanted to minimise that lesion load and ultimately minimise and stomp out any disability before it occurs and disease progression. So ultimately time is brain and spine, obviously optic nerve as well.

But we want to try and minimise, I guess, any damage, that’s going to occur. So the earlier we diagnose it, the better we can treat it, and treating early is the key.

Rohan Greenland

And we’ve heard from Vilija that the actual diagnostic process we have at the moment can take time and be complex. Is that the reason we’re seeing people you know, recognising they’re having symptoms, but taking months or even years to get a formal diagnosis?

Meaghan Osborne

Yes. I think that sometimes the symptoms, especially if a person presenting to a clinician isn’t used to seeing MS, GPs, may never really have seen it or have only seen it once in their career. Because even though it is that common in our, line of work, it’s not necessarily common you know, in the sense of people presenting to the GP, and some of those symptoms would be seen to be vague and they don’t add up. But obviously coming to a comprehensive center, that’s when we get the ball rolling and get that diagnostic approach, you know, done as quickly as we can. That’s the key. That’s what we’d like to see.

Rohan Greenland

Absolutely. So moving on to our panel, with people living with MS I want to ask what drove you to seek a diagnosis? Laura, can you share your diagnosis experience with us?

Laura Birchall

Yeah, absolutely. So my diagnosis came about actually a little bit accidentally. So this was back in 2020. We’d been working from home all year. I’d had some tingling in my arms and I wrote it off, as I’d been working long days from a desk. This is kind of annoying, but it doesn’t matter. I’d mentioned it to my partner and he’s like, you really need to take this seriously. You should talk to your doctor about it. And I thought you’re being so dramatic, but fine. I’d gone to see my GP about something totally unrelated, and she jumped right on it.

She asked me a bunch of questions and gave me a referral for an MRI. At which point I still thought, God, everyone’s being so dramatic. Why are we doing this? I just need to see a physio. I went and did the brain scan and it came back showing two lesions, at which time she gave me a referral to a neurologist who triaged me for about three months’ time, and she gave me as well a referral for a spinal cord, MRI. And she thought, I’ll give you this. You know, if you want to go ahead and do it, that’s your choice. Your neurologist will probably get you to do it anyway, but this might give you more information. And I thought, I’m going to go and get this scan done.

I’m going to show everybody, there’s nothing to worry about here. I went and got that MRI done and it came back. My spinal cord is packed full of lesions. And the process kicked in really, really quickly from there. So, the day that my results came back my GP called me in, insisted on an appointment that day. I had an appointment with my neurologist by the end of that week. He’d booked me in last appointment of the day and spent an hour with me to talk through, kind of, we’re expecting this to be MS, this is all the tests that you’re going to need to do. This is what treatment is probably going to look like.

These are all other things that you’ll need to work through. I then had two weeks of a whole bunch of different tests, a full brain and spine, MRIA lumbar puncture, a bunch of blood tests. I saw an ophthalmologist, I saw a Neuro-physio to get full picture of what was going on. So, I think all of that, when I’d first reported the symptoms to my doctor, it was September. By the time it was November, I had a diagnosis. I’d been treated with steroids for active disease, and I’d started on a disease modifying therapy.

So, the process happened really, really quickly, and certainly was not a place that I was expecting to land from what I went in to my GP with in the first case.

Rohan Greenland

Meaghan does, that sound like, you know, an almost a textbook case of, of how it should happen?

Meaghan

Absolutely. So, when I hear Laura’s story I’m impressed, I’m amazed. I wish we could take credit in Queensland, but I think you said you were from Canberra. Yeah. So, you know, absolutely amazing. So that team got onto it straight away. You GP identified things quicker than probably you could. It’s not uncommon for someone to come to me and say, I went to the physio. I thought it was a pinched nerve. I wasn’t quite sure what was going on.

And I’d been to a number of you know, allied health professionals or sometimes naturopaths and GPs. But Laura, it sounds like you got treated very, very quickly. Now in saying that, you know, absolutely Rohan, we absolutely try to get that done as quickly as possible. And certainly, we achieve in Australia, I think is doing quite well to achieve quick results and quick diagnosis.

However, I would say that I think the stars all align for Laura. I don’t want to be unkind, but I think that not, you know, that’s not necessarily the, the story for everyone. And certainly patients that I see, I might see them far further down the track, which is a frustrating for them, but also extremely frustrating for us. Because we want to help as quickly as possible.

Rohan Greenland

And moving on to Julie. Can you share your experience with your MS diagnosis with us?

Julie Lonsdale-Light

Yes, absolutely. So, my diagnosis story also started in 2020. Like Laura, I was folding washing one afternoon, and I felt just a twinge in the back of my left-hand side. And I thought, oh, it was just something I hadn’t felt before. And it passed after a little while. I didn’t think much of it at all for the rest of the week. On Friday I had a chiropractic appointment and then the Saturday morning I woke up and I thought, well, that’s not right.

My left-hand side was numb, tingly quite heavy, you know, sort of felt asleep sort of thing. And I thought, right, okay, I’ I’ve got a pinched nerve. So, I carried on the weekend as normal, went to work Monday. I actually made an appointment to go back and see my chiropractor thinking it was a pinched nerve.

But then by the Tuesday afternoon, I thought, yeah, there’s something really wrong. So, the slightest touch on my skin stung like crazy. Even having a shower, the water running on my skin was painful. And that’s sort of what made, prompted me to, call 13 HEALTH.

So, I called them and explained to my progression over the week. They asked a, a handful of questions and basically said, you need to go and see your doctor now.

so luckily, like we live in a rural country town, so it’s quite often weeks before you can see a doctor, but I rang and explained what had been happening, and they got me in that day, thankfully.

I sat down and spoke to my doctor and he sent me off immediately for a, a CT to rule out a stroke. And yeah, the following day we were back in his office and he said, no, it’s not, you’re not having a stroke. I don’t want you to have an MRI and I don’t want to scare you, but it could be MS So, he was already at that point thinking along those lines. So yes, MRI to follow that Friday, and he actually rang me on a Saturday morning. I thought that was terrible. The doctor’s ringing on a Saturday, it can’t be good. But yeah, he said, certainly active, like lesions in the images that they’re taken and I’ll refer you to a neurologist.

So again, I went and saw the neurologist had the lumbar puncture, went through all the, the questions with my neurologist about what actually is MS. And, and he sat down like you Laura, sat down and spent a lot of time with us, talked through all the treatment options and gave us a wealth of information on what decisions to make. And so yeah, it was a very trying time. But yeah, that’s sort of how it all happened.

Rohan Greenland

The two cases where the GP has actually played a critical role in, in getting that quick referral and diagnosis. So Amanda, over to you. We’d like to hear your perspectives and whether your experience differed from Laura and Julie’s.

Amanda Kennedy

So, I do have some of the things that are the same, some that are a little bit different.

My story started back in 2021, and just like you, Laura, working from home. Sitting at the computer all day, I started with a hot sensation around my knee. Then I had an altered sensation in the back of my thigh, and then I just went full pins and needles from the waist down in both legs and straight away.

I thought too, I’ve pinched a nerve in my spine and that’s why I’ve got the pins and needles. So I waited about a week, hadn’t cleared up, so I went to see a GP, just like your experience. He was pretty quick onto the MS suspicion. He called me the day after I saw him and said, I think it could be MS I want you to go straight to emergency and I want you to see a neurologist. And just like you, Laura, I was like, Oh, he’s being so dramatic. I don’t think it’s MS. Why would it be? It’ll go anyway. So we go off to emergency. I got admitted, blood’s taken,

I’m in the hospital gown in the bed. Couple of doctors came around and saw me, and I think the first thing that made them kind of dismiss it was the fact that I was able to walk into the room on my own unassisted. I looked fine. So they kind of said to me, we don’t think it’s MS we’d like you to have an MRI, but we don’t do MRIs after five o’clock.

Unless it’s life or death, you are not life or death. You need to come back as an outpatient.

So, I had to wait then six weeks to get a brain MRI, by which time my symptoms had cleared up. I had the MRI and I unfortunately made the mistake of no news is good news. If it’s something wrong, someone will contact me and let me know. I heard nothing. So I was like, must be all good. That was in June, were my first symptoms. I saw the GP 1st of July, then I waited six weeks to have the MRI. Come the end of September, the numbness had come back again. So I was like, okay, back to the GP, now I want an MRI on my spine to see where this pinched nerve is. She brought up the results of my MRI and she just looked at me and said, has no one contacted you? And I said, no, I’ve heard nothing. And she said, “I’m so sorry, the report suggests that it’s MS because you’ve got multiple lesions on your brain”.

So, things kind of moved quickly. She sent me for an MRI on my spine. I had multiple lesions there as well. We did some blood tests and I was low in vitamin B12. She was like, look, best case scenario, it’s a vitamin deficiency. So I went on to vitamin injections to try and boost that up. I saw my neurologist for the first time at the end of October. So it was about four months after my first symptoms. She took one look at my MRIs and my symptoms and she was like, “No, it’s MS. You’ve got MS.” So then it was kind of, you know, you need a lumbar puncture, we’ll get you onto treatment by Christmas, all that kind of stuff. I also had a round of steroids to try and reduce the inflammation.

And then I went home and a few weeks later I started getting blurry vision. Then my entire right-hand side went numb from my head right down to my foot. My vision then went complete double vision, I couldn’t see. And then I lost complete control of my eye. Every time I would talk to someone, it would just move on its own. So I’m thinking, this is not good. I went back to the neurologist.

She also was like, this is not good. She wanted to admit me to hospital, but we were still dealing with Covid, so hospitals were packed. But basically it was another round of steroids. It was a lumbar puncture on the spot. And then in February is when I started treatment. So from that very first symptom appearing to actually starting treatment, it took me eight months. So it was a bit longer.

Rohan Greenland

Thank you. Thank you for that. And Meaghan, from your perspective, you know, what are the critical roles in getting early diagnosis and treatment and is Australia doing well over overall?

Meaghan Osborne

Firstly, thank you Julie, Amanda and Laura for sharing the stories. Because it’s not easy to do that. And you know, obviously Julie and, and Laura, you kind of got through really quickly. Sorry, Amanda, it sounds pretty, pretty tough and I think, you know, from a perspective of are we doing, and I guess like I touched on that before, are we doing really well? I think that Australia overall does well at diagnosing and treating MS. But I mean, you know, we’ve got Amanda here that has told us her story, and that’s not, not through any fault. I don’t think of necessarily one health service or one particular clinician.

It’s just I guess that Swiss cheese effect where things got a little bit missed along the way. And I think, you know, certainly we know that there’s publications around the MS nurse report and around further resourcing. But essentially, you know, having more bodies, that know about MS. So, you know, having obviously a comprehensive centre is one thing.

You’ve got to get to that comprehensive centre. And then, you know, obviously presenting to the emergency department, you know, it’s a story that I’ve heard more than once and I wish I could say that I haven’t. But it’s, you know, certainly one of those stories that’s, you know, really touches you and kind of think, oh, you know, gets you.

But essentially, I think there’s so much more we can improve on. You know, the role of the clinicians is to support newly diagnosed and, you know, find that the  newly diagnosed patient is provided education and, and is being really a reliable resource and source of information.

So when I say the clinician, I mean the whole treating team, where, you know, we should be providing, you know, good contact as a treating team via phone, email, you know, face to face appointments, depends on what that health service offers.

But usually it’s a mix of those things. Usually it’s a mix of an interdisciplinary approach.

And that can look differently across Australia. But essentially, you know, I do think we’re doing well. I think we could do a lot, but I have seen European clinics that have amazing interdisciplinary approaches with, you know, obviously neurologists, advanced practice nurses, nurse practitioners social work psychology physio, speech, OT, you name it, they’ve got it in those comprehensive centres.

And it makes me extremely jealous. So I think we’ve got a long way to go. We do utilize things like hot clinics. So a hot clinic is a clinic that is an ad hoc clinic, if you like.

They’ve been around for a long time. We do those for people like in Amanda’s situation or Julie’s situation or Laura’s, where there’s these new symptoms and we can just filter through from the emergency department or ophthalmology and get you sorted fairly quickly and get the ball rolling there. And obviously nurses play an extremely important role in triaging. So we get a lot of referrals from GPs, ophthalmology, walk-ins from ED. And so our nurses do a fantastic job across Australia on, you know, identifying those symptoms, triaging people with potentially MS, and also those people that we think that might be relapsing.

So trying to prevent further disability. So it’s a whole team approach to keep people, well, keep people out of hospital, get a diagnosis as quickly as possible. But, you know, I think we’ve got a, a long way, to improve. So I think, you know, we should have increased awareness for both medical and nursing curriculum in the beginning of parts of the disease you know, certainly not in the nursing curriculum around multiple sclerosis, there’s a really small section on neurology and most of that’s on stroke. And we need, you know, better access to this expert comprehensive care. And that means improved access to telehealth, increased resources and utilizing that interdisciplinary approach.

And I mean, a full interdisciplinary approach, Not just one nurse and a neurologist or a poor neurologist working solo but really kind of getting clearer and more supportive pathways for nurse practitioners across Australia that want to work in MS. There’s very few of us. I’m a nurse practitioner along with a number of a very, a handful of colleagues across Australia, and I guess fewer restrictions for nurse practitioners. So at the moment, there’s a lot of restrictions on disease modifying therapies even though they’re the things that we know the most about to prescribe.

And so we just haven’t caught up from a, a governance, point of view from the government to allow nurse practitioners to really help with diagnosis and then get people in as quickly as possible. Obviously, nurse practitioners collaborate with neurologists. We, we work closely, we work in the treating team in a comprehensive centre. So, and again, more support for regional areas, regional remote areas.

I know, Julie, you shared your story and, and certainly we have you know, I have clinical experience with a lot of regional and rural areas particularly people living with MS in those areas. And it’s really tricky to get treatment sometimes in small areas and get into see GPS when you need to accessing MRIs. And so, you know, we need to be able to bring some of that expertise other, obviously via telehealth, but also to the people in their rural area and regional areas so they don’t have to spend lots of time away from their family and their friends and, you know loss of kind of really meaningful life. So less life interruptions essentially is what, what I’d like, for people living with MS.

Rohan Greenland

Oh, that’s great. And, just a follow up question. You know, we’ve heard some good examples of where GPs have been quick to recognize a potential case of MS, But we also know that it’s many cases where people report symptoms that are considered just vague. Is there a need to do more to educate general practitioners and even the general public about the symptoms and warning signs of MS?

Meaghan Osborne

Yeah, absolutely. I think, you know, there’s no reason why we can’t have a stronger MS campaign, just like we have a really strong recognising stroke campaign. Obviously, stroke is more common from a neurological disease point of view. But you know, getting those primary care physicians that are, you know, in those regional rural areas, but, you know, everyday practice in the metro to really, like I said, they may not have seen MS before.

They’ve obviously read about it. They’ve, you know, certainly be aware of it, but, you know, having it in the forefront of their mind when a young woman or young man or middle-aged man or woman presents with, you know, numbness, tingling, funny sensations, don’t run it off. Don’t dismiss it as pinched nerve or you, you know, you’ve just had a baby, that’s normal. You don’t, you are not to feel normal right now. So, you know, there’s a lot of reasons why we don’t need to, we don’t need to hit a panic button, but I do think people should be a little bit more aware of it as well.

Rohan Greenland

Vilija, you talked earlier about what is, you know, quite a difficult methodology for diagnosing MS. From a research perspective, are we going to get a better diagnostic test soon?

Associate Professor Vilija Jokubaitis

That’s a really good question, Rohan. So, you know, I think one of the key things that our, lived experience panel spoke about as well was about lumbar punctures. And lumbar punctures at the moment. You know, one of the differential diagnosis tools that clinicians often use to rule out, say for example, an infection and that sort of thing that might be causing the symptoms that are being seen and what they look out for. There is not only the absence of an infection but for something called oligoclonal bands.

And so if somebody has oligoclonal bands in their cerebral spinal fluid, so from that spinal tap that’s normally a pretty good indicator that somebody might have MS. But the absence of oligoclonal bands does not mean that you don’t have MS. And so at the moment, from a research perspective and from a diagnostic perspective, we don’t actually have one single biomarker or one single thing that says, yes, this means that you have multiple sclerosis.

So we have these McDonald criteria and they’re going to be updated later this year. So we know that it’ll start to become a little bit easier again, to diagnose MS. We have MRI scans of the brain and the spine, so we know that people need to have lesions there and that they need to look a particular way. Lots of different conditions can cause lesions in the brain and the spinal cord as well. And so there’s a bit of an art to this medicine as well to understand what is a MS lesion as opposed to what’s maybe due to cardiovascular disease or another neuroimmunological disorder.

And as I said, then we have these oligoclonal bands, but putting those together and taking a history from somebody can get you to a diagnosis. But what if you have somebody who only has that single attack and nothing further at the moment? We don’t have another biomarker that we could say, well, if you had that plus this biomarker, that then gives you a more definitive diagnosis. And so that’s where we’re working in the research space.

We know that multiple sclerosis is what we call, it’s a complex disease. And I think a lot of diseases are called complex because we have no better answers. But basically, what we mean by that is that there is a genetic component, so people have a genetic susceptibility towards the condition, and then there are environmental factors that might push somebody over the edge if they have that genetic susceptibility.

So I work in MS genetics amongst many other things that I work in. And what we understand from international research studies is that there is, again there’s no one gene or not one genetic marker that means that a person will get MS, but there are a number of different regions within the DNA of a person that if they have variations in a number of those different regions, that’s again, indicative that they might develop it.

We call that a weighted genetic risk score or a weighted genetic risk burden. So in other words, adding together different signals within a person’s DNA might be something that in the future could have some translation.

Again, it’s not sufficient on its own. Lots of people actually have this you know, a higher risk without developing MS, but in conjunction with the history in conjunction with MRI scans and so forth, that’s something that might be helpful.

There’s a lot of other things that are being looked at the moment in the research field. There’s and, I think the thing that’s probably more appealing than getting a spinal tap is getting a blood test.

You know, it’d be great to have a blood test that you could get done, and there would be a biomarker in the blood that would be you know, somewhat more informative. And so there’s a lot of research globally going on looking at that. There’s a marker that is being looked at, at the moment, which is called serum neurofilament light chain.

It’s a bit of a mouthful, but it’s basically a breakdown product of injured neurons. And so there is some evidence to suggest that people with MS prior to a diagnosis have evidence of this in their blood for, for a while beforehand. But the problem with serum neurofilament is that it’s, as I said, it’s a, it’s a by-product of neuronal damage.

And so any kind of neuronal damage can lead to that. So you could have a head injury due to sports concussion, for example, it could be indicative of epilepsy, because we know epilepsy is another neurological condition that affects young people, but even having renal disease or being obese can also increase somebody’s levels of this marker.

So that’s not specific enough either. So then we start to turn to other things. So looking at the immune system, is there something specific with regards to the immune system that might be an indicator that might be able to tell apart somebody with MS from another condition?

And so that’s where a lot of the research is going on at the moment. So I guess, you know, what we would love to see in the future is a blood-based biomarker so that people don’t need to get these spinal taps done. Where we could differentiate between MS and not MS, you know, so if you, if you are one of the people that sort of fits into that sort of grey area, doing a blood test, finding out if you have this marker or not and therefore getting a diagnosis more quickly would be the ideal situation. But that’s something what we are working on.

Rohan Greenland

And I think there’s a lot of thinking going on at the moment that MS begins way before people have their first symptoms. And is there a way of, predicting or, of determining who may be at higher risk of developing MS? I think through a combination of genetics, behavioural, and environmental risk factors. Do you think one day we could have almost a way of looking at risk and assessing people who may be at high risk and then finding the appropriate test to see whether they might have MS before the onset of symptoms?

Associate Professor Vilija Jokubaitis

Yeah, I think that’s a really good question, and I think it’s a very tricky thing to answer. And to be honest, I’m not sure. So, there’s a lot of research that’s been done. A lot of it’s come out of Canada actually, because Canada is amazing for research because they’re able to link all of their medical health records together to do research. It’s something that we don’t do in Australia. And it’s, it’s not easy to do. In fact, I’m working on a project at the moment where we’re trying to access some health data, and it has been painfully difficult and it’s been years in the process, and we are finally making some headways.

So if we are talking about things that can facilitate research, it’s, you know, making linkage of health records simpler. But what they’ve found in Canada, because they can do this, is that there is this concept of what Rohan just alluded to this thing called the MS prodrome. And so what they’ve found is that there is, in the years preceding an MS diagnosis, an increased incidence of often non-specific symptoms, people going to their GP a little bit more often, but there’s nothing really that they can pinpoint. It’s something is just a bit off, but it’s not necessarily specific. Or it might be to do with mood disorders, maybe a bit more anxiety. And that’s probably driven because you just feel like something’s not quite right, but you can’t pinpoint it.

Or more frequent UTIs, for example, urinary tract infections. And it’s only really in retrospect once somebody has been given a diagnosis of MS that when their neurologist or nurse practitioner or whoever’s looking after them is looking back and taking that history of them might go, Ooh, actually, yeah, that’s probably, you know, the start of when things started happening.

So I think, you know, it’d be great to be able to, in the future, you know, be able to look at people that perhaps have a family history. Although I suspect, and I’ll, I’ll throw this to our lived experience members, but most people don’t have a family history of MS when they, they’re given that diagnosis.

For example, the relationship between the Epstein bar virus, and MS risk relationships again about potentially non-specific symptoms, all sorts of really interesting things there. But unless we have like a really big population-based study from a very young age, I think that getting at that prodromal thing will be very challenging, particularly in people who don’t have a family history.

Rohan Greenland

The other aspect of this is the, the importance of getting early access to efficacious DMTs – disease modifying therapies. And we have a good access to those in Australia. One of the best places to access the full suite of DMTs is Australia. And I understand Sweden. Um, but if we were able to get much earlier diagnosis and get people onto effective DMTs earlier, what would this do to future burden of disease and, and say a disability associated with MS?

Associate Professor Vilija Jokubaitis

Yeah, that’s a great question, and I’m really proud to say that you’re absolutely right. Australia. You know, when I speak to colleagues clinicians overseas, they’re quite jealous about the access that we have here. Our own research has shown that early and effective treatment, as Meaghan referred to, you know, time is brain and time is spine, and early and effective treatment really means that we can preserve as much brain and spine as is humanly possible.

So getting in early and getting in hard means that we can prevent disability from accumulating. And there’s been great research done that was, of course, commissioned by MS Australia, performed by the Menzies Institute with some health economists that have shown that the greater the level of disability that a person has, the more economic cost there is, not only in terms of the cost of treatment, but also the cost of dropping out of the workplace, the cost of, you know, workplace participation.

And I think, you know, really importantly, we, we talk about economic costs, but also like the personal and societal costs, the cost of quality of life as well. So if we can get in early and hit it hard, we can preserve that to make sure that people are able to live, you know, their, their best lives despite the diagnosis.

Rohan Greenland

So early, detection and early intervention are the key. We’ll go back to our panel now and reflecting on the stories that we’ve heard, I wonder whether there were signs or symptoms like Meaghan and was talking about that, and Vilija was talking about that may have been vague and, you dismissed early, but there’s anything, did you think there might have been missed opportunities for earlier detection? Did you notice anything unusual before you had your formal diagnosis? Julie anything from you? Was there anything that you thought was strange going on way before your diagnosis?

Julie Lonsdale-Light

I did Rohan, but, typically I put these things down to something else, like, I’m tired or I’ve had a big day, or yeah, I always, I always had a different reason as to why I was getting, you know, a bit blurry vision, you know, tired and headaches dizziness. I was just fatigued two mornings. I vividly remember two mornings by nine o’clock in the morning, I was absolutely exhausted to the point where I just had to go to bed.

Rohan Greenland

Yeah. Crippling fatigue.

Julie Lonsdale-Light

Yeah. And I sort of think back now looking at those and I think, oh, I was so silly not to go to the doctor then. And, and maybe, maybe after I slept badly or I’m low in iron or but my, my big one that I look back on was a major fall that I had. But we’d been working in the yard all day, had been and done a big run to the dump, and then we bought some lunch and was walking along the footpath, and I just thought I’d stumbled and fell enough that I ended up in hospital with quite a, a bruised up face and a cut on my nose. And, but I just thought, no, the footpaths uneven and I’ve worked hard. And so there’s, you know, over eight, 10 months, there were probably half a dozen times where yeah, looking back now after diagnosis, and I think, yeah, that could have been that could have been, that could have been.

Rohan Greenland

And Laura, how about you?

Laura Birchall

Yeah, very similar story for me as well. So I, while I was at university, had a whole bunch of times where I’d gone to the GP for bouts of fatigue that had lasted for kind of 3, 4, 5 weeks and got written off as just, you know a post viral something. So I thought, I’m just a boom and bust sort of person. This is just what I do. I had a whole bunch of times where after exercising all of my limbs would be tingling and my visual would go really dark, and I just thought, God, I hate cardio. Like cardio is the words I need to work on my fitness. I’d be doing lunges and tip over and think, oh, I really need to work on my stabilizers.

I think just because all of these problems eventually went away, I figured that something else had, had sorted it out. So there were so many symptoms for me in retrospect that were there, but either weren’t significant enough for me to go to the doctor or weren’t something that I connected to a disease like MS, you know, when I pictured MS, it was people who had lost their vision or who couldn’t, or who had things that you absolutely knew were MS. So I didn’t have a reason to connect those to something more significant.

Rohan Greenland

And how early do you think those symptoms were bubbling up before you went and saw the GP? Well, you, you got your diagnosis, I should say.

Laura Birchall

The fatigue would’ve been, I think, kind of 5, 6, 7 years before my diagnosis. I can definitely pinpoint like in a year or two before covid the, that’s when the exercise and those sorts of things were starting to kick in this year.

Rohan Greenland

And Amanda, how about you? A similar story?

Amanda Kennedy

Yeah, similar sort of story. So a few years prior I had had some nerve pain. I described it, it was almost like I’d been shot, like it had just come out of nowhere, been intense pain in the nerve in my thigh. I did see a GP and she sent me for tests where they hooked up the electrodes to my brain and test all the traveling through the nerves and stuff.

Nothing showed up with that. It was fine. And fatigue, there were multiple times where I went to the GP and so tired, but she did blood tests, checked, you know, thyroid checked iron, all that sort of stuff.

Similar story though, I was at university I was working, you know, it’s no surprise that I’m going to be tired and then like you Laura, I’d exercise and we’d go for a walk or something and I’d come back and my legs would be shaking uncontrollably and I’d just be like, I’m so unfit. I need to sort of, you know, do something about this, but didn’t attribute it to MS at all. So my diagnosis was a complete shock in terms like we spoke about, I have no family history of it, and it was just like, surely it’s not going to be that. But looking now back in hindsight, it’s probably, yeah, there were some warning signs earlier on.

Rohan Greenland

And what advice would you have to people listening in if, they, they don’t have MS but they have similar you know, a similar experience of, this bit of numbness, tingling, perhaps this, crippling fatigue that happens.

Amanda Kennedy

So I think the problem with MS is it’s so invisible. So for me, I was kind of like, if I go to the GP and say, you know, I’ve got this wrong with me, they might say, it’s all in your head. You know, there’s nothing physical that they can see that’s wrong. Are they going to believe me when I say this where I say to them, I’m so tired. They’re just going to be like, well, you know, you’re working a lot. What do you expect? Which was a bad approach. I should not have had that point of view.

So I would just say to people, you know your body better than anyone else. If you’re getting these signs and you’re like, this is not normal, go to the GP. And I’m pretty sure with all of our experiences, the GPs that we’ve gone to believed us straight away and then they started investigating relatively quickly. So don’t just dismiss it. We now know how important it’s to get that early diagnosis. We need to start that ball moving as quickly as possible.

Rohan Greenland

And Julie a similar message you would have for, people in a similar situation.

Julie Lonsdale-Light

Yes, absolutely. And I also think that you know, if you’ve gone to your doctor and it’s not sort of, if it’s brushed aside or not listened to find a second doctor and, you know, talk to somebody else. But I also think if you’ve got concerns, you know, make a diary or a log of, of what your symptoms are, so you can actually physically take something to them and say, look, over one month, two months, this is what I’ve felt till I think that might help.

Rohan Greenland

And, and Laura, no doubt, something similar.

Laura Birchall

Absolutely echo those. I think the diary was one of the things that I think gave me credibility when I was getting diagnosed. I was able to go back and document these are all of the things. And it meant that going through a diagnosis process happened as quickly as it did. I think my advice to people would be, don’t wait for things to get worse.

I think, you know, with so many other health conditions, we’re really good at looking for early signs and going to the doctor to talk about the first sign of something. I think with MS, it’s really easy to go, no, that doesn’t matter. That doesn’t matter. It’s not significant, but trust your gut. If something doesn’t seem right, have a conversation and at least, you know, have it on file so that when you’ve got things happening over time, there’s a bit of a history.

Rohan Greenland

And from an MS nurse perspective, Meaghan, what would your advice be to people who are experiencing these? What can be on the surface vague  and not continuous, the ad hoc sort of symptoms that come and go?

Meaghan Osborne

Yeah, absolutely. I agree with all of you. I mean, you’ve done such a good job of describing your experiences and giving advice and, you know, the diary I would say is perfect for diagnosis, but it’s amazing for us to, you know people come to my clinic and I go through it and they ask, how have things been in the last six months? It’s actually really good. Because sometimes you’d be on an amazing week and you’re like, oh, everything’s fine, or you might have forgotten it, or you’re actually having the worst couple of days of your life and you think everything’s terrible.

And, and so I think, you know, having that like, like accumulation of how things have been going the diary I think is really important. And just, you know, being realistic and, obviously I think Julie, you hit the nail on the head. If someone is not listening, go and see another health professional. That can be really tricky in a rural area sometimes, and GPs you know, it’s hard to get in and see someone to talk to about it.

But if you’re worried and you’ve got, you listen to that internal voice and seek advice as soon as possible. Because I didn’t add in the beginning that, you know, you all kind of echoed to these things have been going on for some time and it’s hard to quantify months, years, it’s hard to know. And so at the point of diagnosis, it’s just the formal diagnosis and it’s often that no one’s had this brewing in the background for a little while. So, you know, obviously getting on therapy quickly and diagnosing, getting on therapy quickly, you know, we want to kind of mitigate any further damage.

Rohan Greenland

And the modern disease modifying therapies are incredibly effective and are changing people’s lives and helping people lead near normal lives. And they can, I assume Vilija only get better as research continues into finding more effective treatments.

Associate Professor Vilija Jokubaitis

Absolutely. I think, you know, the change that we’ve seen in recent years with the advancement of the therapies that are available has been incredible. In the past, people used to you know, I guess we all remember from back in the day, the MS Readathon and, and those sort of images that we had of what MS looked like and what MS looks like today is holes Apart from that. As you said, Rohan, most people can live a very healthy, active, normal life because of the advancements that we’ve made to date. And there’s so much research going on around the globe looking for new therapies, even more effective therapies, and not only just targeting the immune system, but now also trying to find neuroprotective therapies as well.

But of course, that relies on a lot of research and I’m forever blown away by the generosity of people with MS in terms of volunteering to participate in research studies, whether they’re, you know, investigator-initiated studies. So a scientist has an idea and they need volunteers for it, or whether they’re clinical trials. I think, you know, the community is fantastic in participating and I can only, you know encourage anyone else to also, if they’re on, on the, on the edge of whether or not they do or don’t want to, to know that participating in research as well helps to progress these things further so we can have better and better outcomes for people in the future.

Rohan Greenland

And we’ve got some of, of the world’s leading research in MS done here in Australia and increasingly globally linked and collaborated. So it’s going to help us get down those pathways to cures further and faster. Thank you very, very much indeed. It’s now my role to say thank you so much to our panel members today. You’ve been absolutely fantastic.

I just want to thank you for your insightful input, your expertise, your openness, and sharing your stories in discussing the MS diagnosis process. And if you are interested in more information about the topics talked about today MS Australia has released a report for World MS Day featuring data about the time to diagnosis in Australia, what we’re advocating for, and some more personal stories of the MS diagnosis process.

You can find this report more on our website, just visit msaustralia.org.au.

And if you have concerns about your health, please contact your GP or healthcare professional. So, thank you very much everyone. And let’s celebrate World MS Day.

Voiceover: 

Thanks for listening to the Raw Nerve, the official podcast of MS Australia. To hear more, subscribe to our podcast today at msaustralia.org.au/podcast. 

Views expressed on the Raw Nerve Podcast, including any discussions or reference to medications or treatments by podcast guests, do not necessarily represent the views of MS Australia and should not be seen as either an endorsement or rejection of a treatment.

 MS Australia does not recommend any specific treatment for people living with MS. Decisions about any treatments, taking into consideration the potential benefits and side effects for each individual’s circumstances, should be made in careful consultation with the person’s neurologist.

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World MS Day 2024: Understanding MS Diagnosis Forum