Rethinking Everyday Life with Myasthenia Gravis

[Music] Hello and welcome, you're listening to Brain Talks. The podcast series produced by Brain Innovation Days, where we bring together key opinion leaders and change makers from the ever-growing brain ecosystem to explore the latest breakthroughs, ongoing research and bold new ideas shaping the future of brain innovation. I'm Sam Polly and it's an absolute pleasure to have you listening to us today. In this episode we're turning our focus to my senior Gravis, also known as MG, a rare autoimmune neuromuscular disease that profoundly affects daily life, yet often remains invisible in healthcare systems and in policy conversations. Now if you're a regular listener and I hope you are, you may have heard our previous episode on ear MG. And you remember we took a broader 360 degree view. Today we're focusing more deeply on the patient perspective and how personal experience can help shape more inclusive health policy. Now this episode is released in connection with European Brain Council's rare brain disease event in Brussels, where experts, advocates and policymakers are coming together to advance collaboration and improve care pathways for rare brain conditions and also ahead a rare disease day. We're so fortunate to have two fantastic guests from the MG community. We're joined by Luke Gard-Alard, president of the European Myosinia Gravis Association and a member of the expert advisory group of the European reference network on neuro-muscular disorders, who'll be sharing the vital, patient and advocacy perspective. And we're also joined by Dr Lorenzo Maggi, neurologist at the Fondationer IRCCS Institute Neurological Calibesta in Milan. And likewise, a member of the expert advisory group of the European reference network on neuro-muscular disorders. And Lorenzo is going to be offering us the clinical and research insight. Lorenzo and Luke Gard, thank you so much both of you to being with us today. It's just such a pleasure to have you here. Let's start to open the conversation with a little bit more about the lived experience. Luke Gard from a patient and advocacy perspective, what is the real burden of MG on people living with the condition, as well as on families and caregivers? The burden of Myosinia Gravis on patients and their carers has a lot of aspects. First of all, it has an enormous impact on the relationship. Most of the time, it's all the partners or even the parents who are taking care of the patients. One other thing which are very important in the beginning is when you receive as a newly diagnosed, your diagnosed, the impact of not knowing what is happening and that's a tremendous burden in the beginning. So it should be the neurologist who make the diagnosed that should support you and at least direct you to the right help. That's one of the important things, what I wanted to say. Also, the different other aspects of living with MG is a lot of patients have fear, anxiety, because they don't know what happened with their body. They can't bring it home. They don't know what it is. Sometimes they can't even express themselves because they can't speak anymore. It's also the guilt. A lot of them are feeling guilty because they can't do their normal task, especially young women who have to care for children and for the family. They are the most impacted for that. It's also the loss of friends starting to be isolated, not able to go through some activities with friends or family. All those things are very impactful. And at last, but not at least, the financial problems, because the patients most of the time can't work anymore. And from those who are working, it's only about 50%, it's 80% is working as an independent, just to hope, life and work. So also the care or caregiver has to reduce his working hours because he has no tasks to do, aside what he was doing before. So it's a lot of impacting things for people living with MG. Look out, thank you. Let's have a little focus now on the clinical realities and some of the real gaps. Lorenzo from a healthcare professional's perspective. Where are the main gaps in terms of diagnosis and treatment access and also care coordination for MG today? Well, from a critical perspective, the main challenges in myostinia graves are not only related to the disease itself, but to how healthcare systems respond to it. First, the diagnosis of myostinia graves is often delayed. Myostinia graves are rare in a heterogeneous condition, with fluctuating and sometimes subtle symptoms that can mimic other disorders. And outside the specialized centers, this can lead to misdiagnosis or long diagnostic journeys, which are particularly frustrating for patients. Second, the access to treatment remains uneven. The standard of care is still quite a heterogeneous across European countries. We have now innovative therapies, which are very effective for patient affected by myostinia graves, but they ask us to these innovative therapies vary significantly across European countries and even within the same healthcare system. The regulatory pathways, the reimbursement process system and even the prescribing rules in each country can delay or link the access to appropriate and effective therapies. Finally, the care coordination is a major gap in myostinia graves, as of course in other rare diseases. Myostinia graves chronic disease requires a long-term multidisciplinary management involving of course neurologist, but even other specialists such as respiratory specialist, of pharmacist and both health specialist, prior to managing the side effects of the main traditional treatment administered in patient with myostinia graves, which is corticosteroid. The brain is on in particular, but patient with myostinia graves also require often psychological support and unfortunately, too often, the care for these patients is fragmented with limited communication between hospital-based specialists and community services. And overall, I think that the issue is not a lack of medical knowledge, but the difficulty in translating that knowledge into timely coordinating and equitable care for all the patient living in you. And I just wonder if you could just elaborate on the point that you made about access being so varied, even within the same region. Why is that? What's the cause of that? I think that one of the possible explanations is that the standard of care, as I said before, is very, very heterogeneous. There are of course guidelines, but today, the last international guidance had repumbation in 2021, so they need clearly to be updated. And also, for example, in Italy, but I think that this is the case, even for other countries, there are different local rules in each health care system. We have also regional differences in terms of brain enforcement processes and so on. And so these could lead to regional differences, even in the same candidate, but also because specialised centres are not always present in each regional area, in each country. So I think that this could at least partially explain some discrepancies. And this limitation to a standard access to all the available treatments all over Europe. I'd like to talk about the role of patient voice in terms of policy action. Look, God, what is the goal of the EBC's rethinking myastenia gravies project? And why is it essential that patient and care givers are meaningfully included in policy discussions? I think it's highlighting the socio-economic impact of energy on patients and the cares. Having the opportunity as a patient to be part of this project is majoring, because I always say nothing about us without us. So having the opportunity to part and it will give us the opportunity to prove that sometimes in the beginning of treatments you should invest more to have a better outcome. So I'm very happy it started with it because it was something we should have done years ago, just to prove that not giving good treatment give a worse outcome for patients in the future with more costs. So I hope and I'm still convinced that we can prove that good and thorough treatment from onset of the disease will give a better outcomes and we'll save for the future. Lorenzo, let's turn to care pathways a little bit more in focus now. How can care and treatment pathways for energy be improved to better meet the needs of patients, families and healthcare professionals? And also do you have any examples of where that's being done well? First of all I think that improving care pathways for a maestinia gravies require a shift toward the most structured and patient-centered models of care. We need clearly the final referral in care. pathways that can promote early diagnosis and timely access to specialised centers. This is particularly important for our disease as myestine agrees where expertise is often concentrated. So, as I say before, it could be difficult, for example, for some patient living in a specific area to reach the specialised center, which can be quite far from where they live. Second, the treatment decision should go beyond the poor symptom control as done in the past and consider broader outcomes such as quality of life, function and dependence and the ability to work or to participate to social or daily activities. I think that patient and caregiver should be actively involved in shared decision-making and also that thanks to the introduction of innovative therapies, patient's preferences are now more considered for treatment choice, so I think that we are really moving towards personalising the medicine. I understand that there is still much work to be done and also the continuity of care is an issue, is essential of course. Myestine agreed is a chronic condition with fluctuation over time, so the regular fall up and the smooth transition between hospitals and the community care is crucial. And finally, considering the high disease burden, psychological support should be considered as a core component of management of myestine agribus. We know that fatigue, anxiety, depression and social limitation are very common in my estine agribus, but they are still underestimated. So I think that a truly effective care pathway must address both the clinic but even the human impact of the disease. And I think that there are some good examples across Europe. In this regard, the European reference networks have somehow supported the sharing of expertise and even of discussion on this disease. There are some, even for example, in Italy, some good example at a regional level with a good, for example, collaboration between specialised centres and even with local hospitals and non-specialists. This is very important, so this helped to have a sort of rapid access to specialised centres. But I think that there are, of course, even many other examples all over Europe. But again, I think that there are good examples, but they are somehow extension. I think that this should be the rule. And so we are working together with other entities, even with all the stakeholders to try to improve this. And I think that rethinking my senior grades is a good example in this regard. Look, God, perhaps we could talk a little bit more about my senior gravies at a European level, which Lorenzo was just starting to touch on there. Why is it timely to rethink care for MG at a European level now? Why does this moment matter? That's what I said before, now with all the new treatments onto the market and the recognition and approval of the European Commission of EMA. It's time now to reflect on all this and hopefully being approved at the European level, maybe the national states will follow easier. And I find that one of the most important things, because looking ahead for better outcomes for patients, and as I said before, now in a time of saving because of the geopolitic situation, we should spend the money to the right treatments to have the savings in the future. And it's very important. And it's more than time we started to do it, more than time. So I'm very happy, you be seated. Lorenzo, you touched on European collaboration earlier. What role does the European reference networks play in improving care for rare neuromuscular diseases? And how do you see their role evolving into the future? Well, the European reference networks play a fundamental role in improving care for rare neuromuscular diseases across Europe. By connecting centers of expertise across the European countries, the European reference networks aim to reduce the inequalities in diagnosis and management, regardless of where patients live. In this regard, we have recently launched a survey focused on the standard of care across European countries in the European reference networks on the New York Maslow Disodas, and we're receiving a relevant amount of feedbacks. And we are now analyzing the data. But I think that again, this would be helpful not only to try to underline the discrepancies across Europe, but even to understand how to manage this. And so how to make the standard of care homogenous and the same across Europe. The European reference networks also facilitated the sharing of expertise, the discussion of complex cases, and also the dissemination of the best practice across Europe. And also, we are collaborating with the European Academy of New Yorker Audrey in this regard. We have to consider that for my Estinia grade disease, this is particularly available because it's a rare disease with a huge variability from a clinical point of view, so difficult to diagnose, but even to manage due to the fluctuation to the risk of relapses, and also with the need of multidisciplinary process. So I think the sharing of best practice is really fundamental, and year-end play a fundamental role in this regard. And looking ahead, I see that the role of the European reference network expanding further, and I think that they can become even more centering education and training, but also supporting their healthcare professional in particular in non-specialized settings. The European reference networks may have a great potential in terms of collaborative research, data collection, and the development of shared clinical standards. And now there is also the chance to have a European registry supported by the European reference network on a new muscle disease. So these registers open to all the European countries. And I think that it's particularly available because this happens under the umbrella of the European community. Looking ahead, I see the role of the ERNs increasing more and more, in particular, I think that ERN are increasing and recognize the value of patients' involvement, and this is essential to ensure that care-y-per-use are aligned with, of course, the patient's needs. And I think that this is very important because in this network, the patient and they are representative, they play an active role, and this is very different from all other somehow scientific societies that are present in Europe. And look, guys, let's continue looking ahead. What changes would make do you think the biggest difference to the everyday lives of people living with MG in the coming years? I think there are a lot of things. First of all, now that the new treatments are approved, the access, giving patients the access to them, and that they don't have to worry whether they have or not received new treatments, that they don't have to go through a serious treatments before to ultimately end with a new treatment. And that's one of the most important things that patients are sure that they will have the best treatment for their specific MG because it's so personal. You have no two identical patients, so it should be a tailor-made treatment, and that would be a big difference. Also giving them the opportunity to work in a suitable environment with flexible working hours because I'm convinced that even more than half of them can work. But there will be adaptions from both sides, from the patients, but also for the employers. And that's something that should be highlighted because there are a lot of MG patients who still can contribute to the economy of society. And also, which speaking about working, also that patients don't have to worry about their financial situation, which is often precarious because MG still is outside. And Lorenzo, as we start to wrap up the podcast, from a policy and research perspective, what do you think the future of care for rare brain diseases such as MG looks like in Europe? I think that the future of care for rare brain diseases in Europe depends on a stronger integration between research, clinical practice and health policy, with active involvement of patients and the representatives. From a research perspective, in the context of Mastinia Gravis, we are moving toward more targeted and personalized therapies, which are very effective in Mastinia Gravis. And we are also moving towards. better outcome measure that can reflect what truly matters to patients. From a policy perspective, there is a going awareness that rare diseases as mastene agrivis are required specific strategies to ensure equitable access to diagnosis and treatment. Anything that mastene agrivis can serve as a model for how rare neurological diseases are now addressed more systematically across Europe. Most importantly, future care must be somehow holistic. So this means that we need to address not only the medical treatment but also psychological, social and occupational aspects of patient living with the chronic rare disease. And initiatives such as rethinking mastene agrivis, the mastene, how the collaboration and the involvement of all the stakeholders, including patients, policy makers and of core patient representatives can help to translate the medical knowledge and evidence into meaningful and sustainable improvement in care. Just to finish off Lorenzo and then I'll come to you look, if we were to fast forward a decade, you mentioned the more targeted therapies coming, better outcomes, measured, better patient involvement. What would success look like for people living with MG in terms of care, support, quality of life? How hopeful are you if we fast forward say 10 years? I'm very optimistic to be honest. I think that in last years, the new therapies not only clearly improved the management of mastene agrivis, but of course the quality of life of this patient, but also rise the awareness regarding this disease and a better knowledge. So I think that things are going better. And I also think that in next 10 years, we will have many improvements, not only in terms of therapeutic option that of course, I think that we will have a broad range of option, but also I think that our knowledge will improve, but probably we will be able also to improve the translation of this knowledge in a clinical practice. Overall, I think that the management of patient with mastene agrivis and a help, also their quality of life, we further improve in next 10 years. Well that brings us to the end of today's episode of Brain Talks. As we mark Rare Disease Day and look ahead to the European Brain Council's Rare Brain Disease event, we hope this discussion helps shine a light on MG and reinforces the importance of connecting lived experience with research, care and policy. If you enjoyed this episode, do be sure to follow the Brain Talks podcast and please of course share it with your network. I'm Sam Polly, thank you so much for listening, it's been a pleasure having you with us. Please do join us again soon.