Newly Diagnosed - Your questions answered by Neurologist, Prof. Jeannette Lechner-Scott

MS Plus acknowledges the traditional custodians of the land this podcast is recorded on, the Wurundjeri people of the Kulin Nation. We pay our respects to their Elders past and present.

Nicola: Welcome to the MS education podcast series. Thank you for joining me. I'm Nicola Graham, and in each episode, we're going to be joined by an expert to discuss strategies for living well with MS.

Welcome to the newly diagnosed podcast. Today we'll be addressing some of the most common concerns and questions that people have when they're first diagnosed with multiple sclerosis. Well done for tuning in and taking steps to get empowered and informed. I'm delighted to be joined today by Professor Jeannette Lechner-Scott.

Jeannette is the Senior Staff Specialist, Department of Neurology, John Hunter Hospital and Conjoint Professor, University Newcastle. Jeannette trained in neurology in Germany and Switzerland, and she's completed a PhD regarding pain. Since arriving in Newcastle, Jeannette has started a multidisciplinary, specialised clinic for MS patients, which is now one of the largest MS clinics in Australia. She is the founding member of the ANZ Gene Consortium, which has published several leading reports on the genetics of MS. She's pioneered the field of epigenetics in MS. Other research interests are cognitive function in MS and its impact on daily life. She's currently also the Australian representative for MSA, that's Multiple Sclerosis Australia, on the International Medical and Scientific Board.

So, a very warm welcome to the MS podcast, Jeannette.

Jeannette: Thank you, Nicola, and thank you for having me.

Nicola: Pleasure. So, let's jump straight in. I've got a lot of questions for you, Jeannette, many of which are the ones people newly diagnosed with MS wanted to ask their neurologist and for some reason didn't, or maybe they asked, but with all the emotion and information during their consultation, they possibly forgot the answers.

So here we go.

Number one. In basic language, what is MS? How does a person newly diagnosed explain what they have to their friends and family in simple words?

Jeannette: Yes, thank you for this question. It is a very complex disease. It is a chronic disease and what our understanding nowadays is that it is an autoimmune disease. Your lymphocytes cross the blood brain barrier attacking your brain and spinal cord, and depending on where they attack, your brain or your spinal cord, this is where you develop inflammation and develop symptoms, because the nerve endings don't reach in the same speed, their goal and their aim as they do otherwise, so you might have symptoms affecting your vision, your balance. your bladder. So, it all depends where this inflammation in your brain is at the time.

Nicola: And just to clarify, Jeannette, what's a lymphocyte?

Jeannette: So, these are white cells in your body. They're usually meant to attack pathogens, so viruses or parasites or bacteria but because we don't see that many anymore, like we did a hundred years ago, we see an increase in autoimmunity.

So, lymphocytes, white cell counts and the body attacking itself.

Nicola: Jeannette, what causes MS? The big question.

Jeannette: We don't know exactly the bits and pieces that lead to you developing this disease. But what we do know that we've found now over 200 genes that are involved in MS, so associated with a higher risk of developing this disease compared to people that don't develop this disease.

Interestingly, most of these genes are not genes that express brain attributes, like we know from the GIBAs, the genetic analysis for Alzheimer's, for example, or Parkinson's. These genes that predispose to MS. Transcripts are more like the genes that predispose you to rheumatoid arthritis or to inflammatory bowel disease because they are inducing a hyperreactive T or B lymphocyte.

So, your white cells are on overdrive. Although we have all these 200 genes now and we know about them this is only predicting 30 percent of your chance. Then during your lifetime something else happens an exposure to certain viruses like EBB or a lack of sunlight that adjusts your immune system and teaches you how to do self-tolerance, or pregnancy, that is another thing that teaches you how to develop self-tolerance.

So, these things happen during your life and having these genes will make you develop MS.

Nicola: And thinking about prognosis, what does my future look like? Will I end up in a wheelchair? Am I going to die early?

Jeannette: I know this is what is the uncertainty of the disease because it can be very variable. So, there are a lot of patients that remain stable, have maybe one symptom or two symptoms during their lifetime and are stable all throughout, but others rapidly declined. So, in general before we had prophylactic therapy, we saw that within 15 years, half of the patients would start using a stick. When we reviewed our data in a large database only a couple of years ago, we now, after using all these new disease modifying therapies we're not even after 30 years will we find 50 percent that use a stick, which means an EDSS of 6 of the measurement scale.

Nicola: And just to clarify, Jeannette, EDSS, what does that stand for?

Jeannette: When your neurologist reviews you, he does a neurological examination usually, so looks at your vision, looks at your hearing, looks at your reflexes, your muscle power, your sensation, ask you about your bowel and bladder. All these symptoms signs will be added up to an expanded disability status scale the EDSS, which can measure your disease course over your lifetime.

And if you do develop new symptoms and you're increasing your EDSS, this is what we call then a disease progression. If you have a relapse, then your EDSS would go up, and this would usually trigger some therapeutic change.

Nicola: Okay. Going back to the earlier question then, am I going to die earlier because of MS?

Jeannette: I have not tried to avoid this question but it is a very difficult question. The vast majority would live a completely normal life and normal lifestyle. But some patients might deteriorate very quickly, might require nursing home care in the early ages. And these ones you would then call their diet of MS, usually of an aspiration pneumonia.

This is a very, very small proportion of people with MS but, if you take the whole population, studies have shown that your life expectancy would be about, on average, four years less.

Nicola: Okay that's, that's good to know. And why should I go on medication that've got side effects and got risks? I'm feeling just fine at the moment. What's my incentive to take disease modifying therapies, Jeanette?

Jeannette: I do understand as a young person with all plans in your head to travel, to jump on a plane, that you don't want to be bound with regular infusions or daily tablets. But you need to see that the vast majority of the population at some stage needs to start taking tablets for their blood pressure.

Well, these tablets don’t make you feel better, but they will prevent that you have a heart attack. They will prevent that you have a stroke. They will prevent that you have heart failure. So going on disease modifying therapy is a prophylaxis that you do not have another relapse that might leave you with a deficit, and you do not go into the progressive phase that might lead to you needing a wheelchair later on.

So, it is very hard to have to take that for years and it's not a short term therapy. You will be on these medications for the rest of your life. Most of them you can't just stop even if you're stable, because disease might come back.

Nicola: Is it true that the earlier you start the DMTs, the disease modifying treatments, the better?

Jeannette: Yes. The latest research is really that even delays from a year through to a year, in Sweden they even found out that 6 months delaying therapy might have an impact on your disability 20-30 years later. So, these are really studies that haven't been done over 20-30 years.

But we can clearly see in our practice, and I've been running MS clinics over the last 25 years, the prognosis has tremendously improved and the earlier we start treating, the better the long-term prognosis.

Nicola: I think that's such an important message for our listeners that how prognosis has improved and that there are some really effective treatments.

That's lovely to know. So, how do I select a DMT? There's so many available, it's quite confusing.

Jeannette: Yes, it is, and we don't even have time in a consultation room anymore to explain all side effects and benefits of one drug over the others, because there are so many. I mean, we have injectables, these are the therapies that have been around for longer. They are relatively safe, even during pregnancy. Then we have oral tablets, which are easier to take. Some you will have to take daily, others you will have to take in courses. And then there is the infusions of monoclonal antibodies. Some monthly and some six monthly. Some again in a short course one year, and then again in the following year. It is a very individual decision, and it should be a decision that is made together with your preferences. Neurologists are very careful people and I think the patients decide according to the side effects. But if you ask around, the publications now show that efficacy is the number one for patients as much as for neurologists as decision making goal.

So, what we now try to achieve is no evidence of disease activity. So, I've explained previously what an EDSS is. So, we don't want to see any change in this disability score over time. We don't want you to have any relapses. We usually monitor with a yearly MRI. We do not want you to have any new lesions on the MRI because that indicates to me that you still have active disease.

What we call that is the no evidence of disease activity, NADAR for short. So, the drugs that have the highest rate of NADAR I would call high efficacy treatments and that is usually the monoclonal antibodies or some of the oral therapy. Of course, all effective therapy has some side effects, and they vary. The injections might have some flu like symptoms, EMF, tachypnoea, has some hot flushes, and nausea. Most of the higher efficacy therapy have the risk of immune suppression, so you're more susceptible to viral infection, which currently with COVID 19 might frighten some of you, and you should discuss the environmental risk and benefit with your neurologist.

And then the last point, which is also important, is your convenience. Are you someone who lives far away from your specialist centre and you can't come for the infusions? You might be better off with just taking tablets. So, convenience is certainly also a factor that should play a role in your decision which treatment is appropriate for you, and your neurologist will decide, do you have a disease activity level that requires immediate high efficacy or maybe you want to start slow and have something in reserve should your disease become more active. So that is the decision you should have with your neurologist.

Nicola: Another big question that we get many of our callers to MS Connect ask about is, can I still get pregnant and have a family? What do I need to consider?

Jeannette: Absolutely. Yes. I'm not surprised that you get this question very often because almost now three quarters of our patients are female, and the disease is often starting when you think about pregnancy. Yes. So, in 20, 30 years of age. So, we have done 180 degree turnaround in recommendation for pregnancy.

Now that the prognosis has become so much better this is not really a reason not to have children. There's more and more evidence that now shows that having pregnancies, more pregnancies even, the better your long-term outcome. So that's fairly recent research. We are here completing more research in it and seeing how that actually might occur and how pregnancy. I hinted at it before, it has effect on your epigenetic makeup, and you learn to control your auto reactive cells a bit better.

So, you control your immune system because you don't want your immune system to attack your body. I mean, we always knew that pregnancy itself can be protected, so, even in the 90s, we've published the BRIM study where it showed that every semester in your pregnancy, you're more and more protected. So, not so much in the first, but definitely in the third. And then, postpartum after delivery of the baby, then there might be a spike of relapses again. So, recently we looked at this again and it looks like the more stable the disease is prior to pregnancy, the less likely that you have this postpartum relapse.

But because we have such effective treatment now, if you stop them for the pregnancy, then you might get a rebound of your disease in the latest stage of your pregnancy. So especially with the monthly infusion with natalizumab, we have now moved on to giving the therapy in the beginning of the pregnancy when you still have a high risk of having relapses and then stop in the later stage when the baby is developing or the foetus is developing their bone marrow, so that you prevent relapses after and prevent the relapse rebound during pregnancy.

So, this is a very delicate thing that you need to play around and, in discussion with your neurologist, what level of activity you have. Prior to pregnancy, is it safe for you to stop it before the pregnancy? Should you change to some safe treatments like the injectables that you can take throughout the pregnancy?

And then later, once you have the baby, there's some hints that pure breastfeeding is protective, so at least for the first couple of months. But if you're at risk of rebound relapsing after the delivery, you might rather think of starting your therapy early on again, so very individual decisions depending on how you've been running with your therapy prior to pregnancy, and how to start again after. Something that you really, really need to discuss with your neurologist. But overall, we encourage our women nowadays to have as many babies as they can tolerate.

Nicola: That's good news for anyone planning a family, Jeannette.

So, carrying on from that, the next concern, obviously, would be what risk is there of me passing this condition on to my children?

Jeannette: Yes, I've been speaking about the over 200 genes that can predispose you, so these are not specific genes. It's not an inherited disease like myotonic dystrophy or final muscular dystrophy. Where one gene is transmitted and 50 percent have it, or 50 percent of your offspring have got it. So, all what this genetic score means is that you have a higher risk compared to the general population.

So, the general population has one in a thousand, and your first degree relative, we estimate to have seven in a thousand. So, you increase it seven times. It's the risk of your child to have MS, but that still is fairly low in the grant scheme, and if that environmental factor doesn't happen, they will never develop it.

So, what you could do to prevent or making sure that your genes that you might have passed on to your kid don't end up into MS is, healthy lifestyle for the kids, just regular exercise, enough sun exposure, enough vitamin D.

Nicola: And this is that real life meaning of epigenetics, isn't it? That interaction of environment with genes, switching them on and off, depending on the environment.

Well, that's encouraging information. Seven in a thousand, as you say, is a relatively low risk. So next question, Jeannette, what will make my MS worse?

Jeannette: So, we've touched on sun exposure quite a lot. So, I think apart from having baby sleighs, the other risk is that we spend a lot of time inside and we're not exposed to UV light anymore as we used to and this is not just my hypothesis but shared by others as well that this is why autoimmune diseases might be on the rise.

So, the other factor that we definitely know is increasing risk of disease activity is smoking, because inhaling any substance is irritating your mucosa in your lungs, the skin in your lungs, and activating these lymphocytes, these white cells that we talked about before, and they expand and some of them can even go to the brain.

So, another factor that is pro inflammatory is if you have too much weight on. Obesity is a pro inflammatory state, so we, even the general marker in the blood that we measure for infection is slightly high in obese people. So, reducing your weight, stopping smoking, and the third factor that we are very keen on, getting a handle on is stress.

That was always questionable, but I think the evidence is mounting that there's increased risk for disease activity with stress. So, in a holistic approach to MS we offer also meditation, recommend regular exercise out in the nature, going for walks, stress free environment, will settle disease activity.

Nicola: So, what will make my MS better, which is the flip side of what you've just said, really?

Jeannette: So, part of what we said, reducing your stress levels with meditation. Doing regular exercise. There's a lot of evidence that exercise is good for the brain, not only to prevent dementia, but also to prevent that progression of MS.

As I said, outdoor activities, I think, exercise. I mean, we've done that now, but the gyms were all closed. A lot of people have discovered you don't need to go to the gym, you can actually walk around the block, or you can go cycling. Never seen so many dogs walked than in the last couple of months. And the last factor is also a healthy lifestyle. Chicken mc nuggets shouldn't be your stable food, sugary drinks are definitely bad for you. There's not a specific diet that we recommend, but a healthy balanced diet is.

Nicola: Moving on from that, I've always known that eating healthy, exercising, being a healthy weight is important. Just how much more important are these things for me now I've discovered I have MS?

Jeannette: Most of my patients find that they want to get back their control of their life, and one way of doing is that you can contribute by changing your lifestyle. You can contribute by really turning it around, eating healthy, going do your regular exercise. You gain control, you will feel better, and you will feel that you have done something to prevent you from going down the slippery path with MS.

It is not always possible, so you shouldn't punish yourself if you've done everything right and you still have a relapse. It's not the only thing that drives disease. But it's certainly, a lot of people feel pain better after the diagnosis because they have made these lifestyle changes.

If you do make these lifestyle changes, it will not only prevent you from having relapses in MS, but it will prevent you from getting a heart attack, a stroke or diabetes later on. So, it is certainly worthwhile changing your life and making the effort to have a healthy lifestyle.

Nicola: I'd also like to direct our listeners to some of the resources we've got in terms of lifestyle at MS Ltd.

So, we've got the Eat Well Live Well Nutrition Tool on our website. We have weekly live and recorded webinars on a huge range of topics including lifestyle, so that's covers some of the topics you've mentioned, exercise, change of behaviour, nutrition, the gut microbiome. And we have online courses that our listeners can join on mindfulness and tai chi and Pilates and facets, which is an evidence-based fatigue management program and also, of course, our podcasts that cover a range of lifestyle recommendations from MS experts.

So, I do encourage our listeners to have a look on our website for those tools and upcoming programs to support them. I've seen information online about MS diets and alternative treatments that claim to treat and cure MS.

What do you think of these Jeannette?

Jeannette: I would be cautious what is advertised on the internet, and you need to scrutinize your information very carefully. I mean, over the last 25 years, there were a lot of therapies advertised from bee sting to coke diet that have no evidence whatsoever. So, if you do see anything new on therapies that you want to know about, ask and discuss it with your neurologist.

If they're not up to date with the latest advertisement of on the social media, they will get back to you to tell you if that is something to believe in or rather leave.

Nicola: I remember a mentor of mine, Jeannette, saying to me, keep your mind open, but not so open that your brain falls out.

Jeannette: I'm always open and my patients come all the time. I mean, if it's not themselves searching, it's their family members that say, but you need to be on this, you need to be on that. Good minding friends and family members are always what they see on TV, but there is a constant change, and there will be new therapies available and new research, but it will always take some time until the evidence is collected.

And sometimes it's better to wait a bit. With regards to strict diet, the brain health diet as advertised by the CSIRO is not only good to prevent dementia, but it's also good for MS. So very happy for you to follow that. We've just completed a recent questionnaire study on our patient and collected data on their gluten and dairy restriction, which is highly recommended on some websites.

It does not seem to have any effect on our disease outcome measurement, like no evidence of disease activity. There are these pro inflammatory foods that are gluten and dairy, it, I don't think it really has an effect on MS. As I said earlier, there are 200 genes, some of which are also predisposing you for celiac disease.

So, if it's quite common that some of my patients have celiac disease or lactose intolerance because they're in the similar gene range, if that's the case, then certainly a lactose free and gluten restricted diet is appropriate. But for MS itself, I don't think it has any benefit, thank you very much.

Nicola: Okay, and where can I find support between appointments?

Jeannette: MS Connect is certainly there online to give you advice, to guide you in the right directions. You might be lucky to be associated with an MS centre like ours where there are MS nurses available that have given you the phone number to call if there are any questions, and if you have any and then we will triage you for urgent appointment or blood test or another MRI.

Nicola: I just want to on that note then, Jeannette, just let our listeners know a little bit about our MS Connect service and some of the support that we can offer here at MSL. So, you can call 1800 042 138 and speak with an MS expert, an MS nurse advisor or a social work advisor. We also have a beautiful service, which is a peer support service, where we can link you up with another person who has MS with similar concerns or a similar situation as yourself, which people report is really helpful and reassuring.

We've also, for people who are in employment, we've got an employment support service, we've got NDIS services as well, along with all the education support that I mentioned previously. So, I'd like our listeners to feel that there is plenty of support available. They don't need to feel alone and that there are experts at MSL and along with the clinics like yourselves, Jeannette, that really do understand and are available for our listeners.

So, our next question is also a really common question we get on the MS Connect telephone line. How can I tell if this is a relapse or just an off day?

Jeannette: So, this is quite difficult to figure out for yourself. Anything that reduces your reserve, be it an infection, be it not having slept, being really run down because you've worked too hard might make these symptoms come out more to the surface.

So, there is in Mount Sinai Professor Krieger has developed a tool. He imagined it. MS is like a swimming pool, and you do have the water level being your clinical threshold. As in a swimming pool, you will have a shallow end and a deep end. Having relapses and inflammation in the middle of your brain might not necessarily spike through the water level and be an apparent symptom, like a weakness or numbness. It might just go up and down and leave a spike under the water. But doesn't break through the clinical threshold, whereas, if you do have an inflammation in your spinal cord or in your optic nerve that would be in the shallow end, that is very likely to come up, show through the clinical threshold through the water level then go down again, but remains below the clinical threshold, below the waterline. So, if you go and exercise very extensively, then you feel that your body temperature goes up, then your water level sinks, and these spikes come apparent when you recover again and you cool down, then the water level rises again.

So, what we can do is, as neurologists, we'll give you treatments to prevent further spikes occurring on the bottom of your swimming pool. What you need to do is to keep this brain reserve up to a high level. Your water level should always be high. It will, with time and age, slowly come down and any spikes that you will have accumulated over your 20, 30 years of disease will be more apparent when you age, but the more you can get your healthy lifestyle, get your exercise in, the more you can contribute to keep that water level up and to keep your brain reserve up.

Does that explain it?

Nicola: Yes, it does. I think I've got a good visual of a swimming pool with some spikes under the water and that really, we want to keep that water level or that brain reserve up at a healthy level by our lifestyle and by DMTs as best we can.

Jeannette: But coming back to the relapse itself, if you experience any new symptoms, and these are not going away when you rest, cool down, and you have excluded, with your GP, for example, that you don't have an infection, you don't have the flu, or you don't have a bladder infection if it lasts more than 48 hours, that's a definition of relapse, then you should contact your neurologist and we might give you high dose steroids to treat that relapse.

Nicola: In between appointments, Jeannette, what kinds of things should I contact my neurologist about and what type of things should I go to my GP for?

Jeannette: It very much depends. So, any new neurological symptom, weakness, stiffness visual problems, you should probably contact your nurse if you do have one, or we can figure out then, is that a new MS symptom?

Your GP is still the first point of call to exclude that there is an infection that causes these new symptoms. And it is probably also not advisable to contact your MS team. For any bowel problems or which is likely not to be MS because we should, we focus on the neurological bit and there is so much more to your body and you're as likely to have appendicitis than anyone else.

So, we shouldn't miss it. So, you should always involve your GP as well.

Nicola: I keep seeing blogs about people going overseas for stem cell treatment. Why is Australia so slow with offering this as a treatment option and is it likely to be an option here in the near future?

Jeannette: So, stem cell therapy done in the right way is a very effective but a risky therapy.

So, you wipe out your bone marrow and you're then prone to infections for which you have no immune system to fight. Your risk of dying of this therapy is still in a category that I encourage. Cannot recommend it to the majority of my patients. It is very effective, but it isn't something that lasts forever either.

So, the more patients now undergo stem cell therapy, we see that after a couple of years, disease comes back. And they're also experienced something that we see with other high efficacy treatment, like alemtuzumab that other autoimmune diseases come to the surface. So, there is other very effective treatments available that we should definitely try first before we go to the most risky one.

And you might be very stable on that one without having to go to HSCT. Should you fail them and have a very active disease, then I'm sure your neurologist will discuss that with you as an option. And we have access to hospitals in Sydney and in Melbourne where this treatment is conducted in rare cases where it is needed.

So, there's no need really to go overseas, with all the complication that you might get from doing that. The therapy is in rare cases where it is indicated offered in Australia.

Nicola: Okay, that's good to know. And the last question, Jeannette, what can I hope for? Where can I draw hope and inspiration from?

Jeannette: So, as I said before, the prognosis of MS has dramatically changed over the last two decades.

With the introduction of very effective disease modifying therapies, we do not see as many people ending up in a wheelchair, most people have a very successful life, can have a family, can work full time. That is, as long as you continue working with your neurologist on the no evidence of disease activity.

There is a lot of research going on, constantly going on, and one very interesting aspect, so I told you we have very effective therapy to stop relapses, but if we can find something that stops them. the progression as well. This is where we put our efforts in the research at the moment.

And we are also currently conducting clinical trials, phase two and phase three trials. So almost there to be available is treatments that remyelinate, so fixing deficits that you might have experienced with previous relapses. So, we were constantly working on better therapies for our patients, and we have achieved a lot but there's still a lot of work to do.

Nicola: Thank you so much, Jeannette. And on behalf of all our listeners, thank you for dedicating your work and life to researching and working with people with multiple sclerosis. It's deeply appreciated.

Jeannette: You're welcome.

For more information on anything we've covered today, please get in touch with MS Connect. Connect on free call 1800 042 138 or email [email protected]. And don't forget to find the MS Podcast on your favourite podcast player such as Apple, Google Play, Spotify, Overcast, or you can access the podcast directly from our website ms.org.au.