Transcription:
[00:00:00] Dr. Monica Lopez : Hello, everybody. I'm Monica Lopez from Madrid, from Spain. I'm an internist and I work in the University Hospital Ramón y Cajal in Madrid. And I attend patients with alpha-mannosidosis from more than 10 years ago. Hi, and I'm Sophie Thomas. Welcome, everybody, to the webinar. And she is Sophie. Sophie?
[00:00:35] Ms. Sophie Thomas: Hi, I'm Sophie Thomas. I'm the senior head of patient services and clinical liaisons at the MPS Society in the UK. As a patient organization, we support MPS and related lysosomal storage disorders, which includes alpha-mannosidosis.
[00:00:51] Dr. Monica Lopez : Thank you for joining our webinar today. Thank you. These are the attending notes. Now, do not take any screenshots. And you can think about any questions at the end of the session. We will answer as we know. This is my presentation. I'm talking about analyzing changes in mobility, pain, or discomfort and patient self-care over time. We have to move in the past. And as you can see here, wait a moment. As you can see here, this is a publication of more than five years. And this was the first, I think, the first article about the natural history survey, a survey of natural history in the UK, about the impact on patients and careers in alpha-mannosidosis. We had also another similar publication two years later about the caregivers and physician perspectives on alpha-mannosidosis from Italy. These are two examples that we need to know about the comorbidities in the adult with alpha-mannosidosis. These comorbidities we can resume in difficulty walking, dysostosis, physical dependence is very important, intellectual disability, maladaptation in any fields of their lives, and the risk of severe bacterial infections, cellular and humoral immunodeficiency they have. And also in the EMA, from more than 10 years from EMA, they have considered very important the patient's voices. In the evaluation of medicines, it is talking about one of the points they measure about the efficacy of treatments are the sensation of the patients, the PROs. And today, we have in the EMA regulatory science to 2025, one of the goals is this one you can see here, advancing patient-centered access to medicines in partnership with healthcare systems. It seems to be that the patient's involvement is enhancing in the EMA committees, not only in the scientific committees, but also in the whole EMA. They have to explore methodologies to collect and use patient data for the benefit-risk assessment, not only the biological data, but also the patient's data. New guidelines with patient data collection and with the PROs. We have talked about that before, patient reported outcomes are very important nowadays. And of course, the quality of life. This is the reason that we were thinking about how to improve the support offered by physicians, understanding what questions patients and families would like answered and what a physician with what professional should ask. And this was one of our publications, our investigation this year, it has been published this year, about a Delphi consensus study with most of the physicians we treat this disease. And in this publication, we made this recommendation. One of them is, this is a very, very short summary, one of them, it is important to regularly monitor school or work performance, disease burden, quality of life, motor skill, cognitive skill. And of course, in the second part, caregiver quality of life, not only the patient, but also the caregiver quality of life. We are talking about this point, the caregiver during the webinar, it's very important for us. And you can see here, the degree of consensus around all the professionals. And we have to be able to respond to answer this question, what are you worried about? Not only the patient, also the caregiver. This is the objective of this survey, more than 50 people from 18 countries completed the survey in the whole Europe. And responders were mostly parents, it's obvious that the individuals who are with disability in the cognitive sphere, only 3 individuals with alpha-mannosidosis could answer the survey. This was in 13 languages, and it was made during three months last year. And I'm not talking about the survey, I think Sophie is talking a little bit about the survey.
[00:07:23] Ms. Sophie Thomas: But what have we learned in this field about this knowledge? This is my opinion, you know, healthcare professionals must be closer to our patients, it's necessary. Develop empathy with caregivers from a respectful and professional perspective; we are not relatives of our patients but they are not as usual patients. Our patients with rare diseases are special and the caregivers are also special here, thank you. Promoting active listening. Active listening is, I think, is the key with patients and families. And ask what worries you, and try to give an answer to it, not what worries me. What worries you, what worries the caregiver, what worries the patient? And I have to try to give an answer to it, not to my questions only. Here is one of the meetings with the patients in Spain, with an MPS association in Spain. Here is me, here is me, here are my patients, and here is their mom. Wait, I think, here is their mom. Okay, could you pass the next one, please, because I couldn't. Okay, this is an example of how we have the relationship with the patients and the doctors and nurses and any kind of professional of healthcare to take care of our patients. Thank you very much. I don't know if you want to discuss anything of this part, Sophie?
[00:10:02] Ms. Sophie Thomas: Hi, yes, thank you. That was really insightful and it was really sort of humbling and comforting to know that from a clinical perspective, and I think from the consensus survey that was done, that the, you know, ensuring the quality of life of not just the patients, but also the caregivers was scored really highly. In respect of that, is there an area that you think we should be supporting more so than another, or is it just the sort of whole sort of holistic side?
[00:10:46] Dr. Monica Lopez : What I want is to be a holistic side, because I think the patient is not only the disease but it is not very easy for us, because, for example, in our public health system, we haven't enough psychologists, enough logopedia, I don't know how do you say, and we haven't enough physiotherapeutics, and I think it should be a holistic manage, but it's not easy for us. I think the patient's association, you have a very important role in this part of the support that the public system, we can't.
[00:11:42] Ms. Sophie Thomas: Yeah, absolutely. And do you think, is there a specific area you think that we should be focusing on as patient organisations? Is it just generally quality of life? Is it sort of psychological support? Is it that more practical support? What is it from your experience is the needs of the patients and the families that you are caring for?
[00:12:05] Dr. Monica Lopez : It's not easy to answer this, but I think in alpha-mannosidosis and also in another kind of MPS, the caregiver has a very hard work with the patients. They are their relatives, usually their children, but they are not children, the patients. They are adults, and you are seeing a mother, for example, about 60, and she is not with the energy to carry on with two children, about 30. Then I think to have a rest for the caregiver is necessary, is obligatory, I think, and we should cover this need. In Spain, we have a place in the north of Spain where they can retire the caregivers during some parts of the year, or the patients there, and the caregiver can go for a trip, for a, I don't know, for a safari, or where she or he wants. And also I have to say, I don't know if it is very correct, but I have to say that usually the caregiver is the mom, the mother, you know? And it's not general, but when the family has this kind of problem, the fathers, more than once, they go to the opposite way. Here is the family, and here is the father, and it's not general, you know? But I think the mother in this, in the 21st century, is yet the main caregiver.
[00:14:17] Ms. Sophie Thomas: Yeah, no, I totally agree, and I think you've touched on a few other really important points for us all to consider, is that, you know, the caring responsibility is very variable, not just when, you know, comparing, you know, caring for children compared to adults. And also, you know, alpha-mannosidosis is a very heterogeneous condition, and so therefore the support needs of individuals can vary quite considerably. So it's quite a complex area to navigate, but absolutely, you know, the care of not just the patient, but the caregivers is vital. OK, so I'm going to move on with my presentation, and just thank Monica for setting the scene for the slides I'm going to present going forward. So my first presentation is focusing on some of the learnings and recommendations that Monica has shared, as well as some of the practical insights from the survey, particularly on listening to patient voices and needs. OK, so as we already know, and Monica has covered some of this, alpha-mannosidosis presents as a complex range of signs and symptoms that can affect multiple organs, with severity often worsening over time, as we've just discussed. Due to complexity of the condition, individuals may require long- term medical support for various symptoms, including things such as hearing loss, bone growth issues, respiratory problems. And interventions may include, as Monica has already discussed, sort of physiotherapy, orthopedic surgeries, and regular ENT care, particularly if they're, you know, associated respiratory issues and infections. And from feedback, we know that the frequency of hospital appointments and medical procedures can be burdensome, not only for the patients, but also for caregivers and families. And whilst treatment does not cure the condition, it can significantly slow its progression. And the study showed that treated patients often experience meaningful improvements in health-related quality of life, compared to those who are untreated. So in looking at some of the areas specifically explored in the study, one of the most reported areas of concern was issues related to pain. And as we know, pain's difficult to predict, monitor, and treat, especially for people with conditions such as alpha-mannosidosis. It can significantly impact daily activities, restrict mobility, and affect overall quality of life. Ascertaining the cause of pain can also be challenging, but the impact should never be underestimated. Not only can pain limit the amount of walking a person can do, it could also prevent them from walking at all, due to retrospective pain. And we know from patients and other conditions that being more active can actually create a cycle of increased pain and fatigue, especially for those trying to maintain their mobility. Pain was also noted to affect mood and well-being, leading to reduced levels of activity, social isolation, and decreased independence. And the study also showed that some individuals learnt to adapt to remain independent, and we know that early interventions and treatment showed improvements and sustainability in patients. But an area that's often overlooked due to physical and clinical symptoms taking precedence is the impact of psychological well-being and mental health, and Monica touched on this in her presentations. Mental health problems such as anxiety, anger, impulsivity, obsessive-compulsive behaviors are reportedly seen in patients with alpha-mannosidosis, and was reported in the survey. Young people are particularly vulnerable, which can lead to loss of skills, lack of confidence, and can result in them becoming socially disadvantaged and isolated. Whilst access to treatment can improve psychological well- being, we shouldn't forget that long- term treatment can be both emotionally and physically exhausting, so adding an additional layer to that psychological burden. Therefore, prioritizing mental health is therefore essential in supporting the holistic approach, which Monica described really well, and particularly the approaches to treatment and care of patients. Okay, so Monika has already discussed the importance of engaging and including patients and families in discussions and for the next part of my presentation I will be exploring and discussing ways to support patients and families from the point of diagnosis onwards. Okay, so diagnosis is just the start of the journey. Getting a diagnosis can sometimes be the biggest challenge and we see this quite often with patients and families with alpha-mannosidosis. We've already talked about that many of them are diagnosed in adulthood and present with significant clinical and care needs and whilst we strive to ensure people with rare conditions receive a fast accurate diagnosis, the reality is the path is usually long with many delays and challenges. Many individuals and their families experience a frustrating cycle of appointments, tests and misdiagnoses especially for those diagnosed in late childhood and adulthood and this can lead to feelings of helplessness and isolation as the concerns may be overlooked or dismissed by health care professionals. For many the journey to diagnosis can cause significant emotional toll for patients and families. It is therefore important to be prepared for a range of emotions and reactions by individuals and carers to receiving a diagnosis. Each individual's journey will be unique and feelings will differ from situation to situation.
Some of the feelings you could be faced with could include feelings of frustration, exhaustion in seeking a diagnosis, helplessness, desperation, relief at finally being given a diagnosis, guilt at passing on the gene to their child and fear and worry of being given a diagnosis of a long-term progressive condition. I think we should never forget that last point. Whilst how the diagnosis delivered is important, receiving a diagnosis is only the start of a much longer journey. More importantly the way individuals are supported post diagnosis has a significant impact on their journey and their ability to cope and thrive. The role that health care professionals and support groups play in this journey is therefore vital. So here are some points of how to deliver a good diagnosis. Now I think many of my clinical colleagues already do this but this is is more of a sort of reminder point of things to remember when delivering a diagnosis. And delivering a good diagnosis involves a careful and empathetic approach which Monica has already talked about. So how best can we do this? So most importantly delivering a diagnosis where possible should be delivered face-to-face. This facilitates better interactions and allows us to gauge better how people are reacting by observing body language and expressions and assess what emotional support they may need. Allow additional time for the appointment. The last thing you want to happen is to cut short the conversation due to not enough time being allocated. And it's important that you do your research and are prepared for that appointment. Review the patient notes and test results. Check the information you intend to share is accurate, current and from a credible source. Is the information fully up-to-date, clear, using simple language? Are there specialist centres with more experience that you could refer to? What are the treatment options? Are there any clinical trials that may be happening? Is there a patient support group for the condition? Now this may not be in the country that that patient is living in, so explore connections and opportunities elsewhere as well. And whilst nearly all rare disease patients and carers become knowledgeable and experts in their condition, it's not their responsibility to have to educate professionals. Remember this expectation can add additional burden and stress. It's important to conduct a thorough assessment to understand each patient's unique needs, considering psychological, social and emotional factors, in addition to clinical requirements. Linking professionals early to ensure access to support systems are there from the start. And lastly, provide a summary letter of key information, discussion points, links to services and next steps. This will be extremely beneficial to patients and carers to recap on key topics and conversations they have missed during the appointment. And this isn't just at the point of diagnosis. This should be standard practice after every clinic appointment, because I can guarantee patients and caregivers will come out of that appointment only remembering a percentage of what's been shared with them. And by doing this, you will be building the foundations for a trusting relationship, which in time can help empower families to advocate for themselves and seek the care that they need. However, experience tells us that having a rare condition can significantly affect not just the individual, but the entire family, as Monica's already talked about, recognizing that a health condition can impact patients and their families far more than just what can be physically or clinically seen or measured is paramount. Navigating the complex web of medical care, treatment options and everyday life can be challenging and it's important that health and support systems work together to provide a supportive environment that includes not just the patient, but the entire family unit. So I just wanted to pull out one example from this list not covered previously, which I believe is often overlooked or difficult to assess and measure clinically. So cognitive challenges and difficulties such as slow processing and speech and language issues can significantly affect an individual's ability to communicate and interact socially. This is an area that many report is not well understood or supported and can cause difficulties with them being able to communicate in the right way, not being understood or resulting in people not having the patience to wait and give a person time to process information before responding. This can lead to feelings of exclusion, being different from others, frustrated and limiting their interactions with peers and socializing. One person shared with me that although socializing, making friendship groups, being included in parties and gatherings seems trivial, the feeling of not being part of these can have a huge impact on a person's life. And I, you know, I believe personally that this is an area that we need to work better on to look at how we can better support, what interventions are there, what other supports are there that helps an individual with their cognitive difficulties and particularly sort of around communication and slow processing. So in conclusion, we know that alpha-mannosidosis affects individuals and families much more than just clinically. It can impact aspects of daily life, well- being and quality of life. And by addressing not just the clinical aspects but also the psychological, social and emotional aspects, we can help make a difference to the lives of individuals and families affected by alpha-manner sedosis. But this cannot work without collaboration. Collaboration across multiple teams is essential. It ensures that all aspects of a person's experience are addressed and by implementing the strategies discussed in my presentations, I truly believe we can create a supportive environment that empowers both patients and their families, ultimately enhancing their quality of life. Thank you.
[00:29:25] Dr. Monica Lopez : Thank you, Sophie, very much. I think the most part of your presentation, it has been a very good lesson for all the doctors, you know? I think more a professional should have been here to listen to you and your opinions. I have one question, More than one patient and more than one relative, they said, when And I think we are not 50 years ago when the doctors were like a god. And here is the doctor, and here is the patient. Now we are face to face. And we should be able to explain the disease, the options of treatment, for example, or not to treat, but the options. We should be able to explain that. And with the knowledge about the disease and the complication, the natural course of the disease, then the decisions should be shared in a shared manner. This is the only way to have a good relationship between patients and families and the professionals. Because they need to understand the disease. You need to understand the disease. And we should be able to explain the disease that everybody could understand that.
[00:32:27] Ms. Sophie Thomas: Yeah, no, absolutely. I mean, I think to your second point first, shared decision-making is vital. And it's about how can we better inform patients and families about their condition, about the options for things such as care and treatment, but also to link them in with other individuals and families and support groups. Because as I mentioned, the support and care expands outside of the clinical setting. There's a lot of support and interventions from a social aspect, so looking at education and college and work. I think information is power, but it has to be correct, has to be informed. It has to be delivered in a way that individuals and families can understand it and process it. They have to be able to check back on that information. And I think through providing sort of that support. At regular intervals and enables and allows individuals to become almost like self-advocates for themselves, and that's really important because we're not always there at those critical moments. But also it's about recognizing that not everybody you know can can do that, or that they may be able to do it to a degree. And I think that's where, you know, patient organizations play a vital role in providing that sort of support and can be that link with other professionals. You know we can help provide information. We can do, you know, for schools, for example, we could go and give a presentation to the teachers about the condition and the impacts and the support needs that individuals may need. Because, as I said, you know, you know patients and families become experts in their condition but it's not their sole responsibility to have to educate others and we all have to take, you know, a piece of that responsibility in supporting individuals and families to do that. You know, because there's a lot of, you know, professionals you know that are involved in an individual and a family when you get a diagnosis such as alpha-mannosidosi and I think to your first point about you know the individuals and families feeling happy about getting the diagnosis- yes, we, we see that a lot, particularly when you know the the journey to diagnosis has been so fraught, lengthy with misdiagnosis. You know it usually involves. You know parents and carers continuously going to their. You know primary care physicians, hospital saying you know this isn't, this isn't right. I need to be tested for this and to sometimes get that final diagnosis. As you say, it can be a relief and people can look at it positively that you know, after many and for most many years of you know fighting for a diagnosis, they finally got got that.
[00:36:18] Dr. Monica Lopez : Yes, I agree, totally. I agree. I don't know if we have any questions from the audience. Say maybe we can here we have. Was the impact on the psychological well-being on survey above pain?
[00:36:48] Ms. Sophie Thomas: I'm not sure it was rated in the survey above pain, but it was definitely one of the areas that was explored within the survey.
[00:36:58] Dr. Monica Lopez : Yes, we are presenting this data, I think next february in the World Symposium in San Diego in lysosomal diseases and I think it is very important the impact of psychological well-being, I don't remember the rate.
[00:37:22] Dr. Monica Lopez : So it says here how can I better support the patients' and families' emotional needs through the diagnosis journey? From our perspective as a patient organization, we are really advocating to get psychologists involved in that initial appointment because you don't know how an individual families are going to react to that diagnosis and sometimes as Monica says that initial reaction may be sort of relief and happiness and then a few weeks and months later there could be a lot of worry and anxiety, self-blame so for me having access to a psychologist is vital. You know, because you share,... worry or sadness is the half is and a half. And maybe it can be useful for our patients to share these worries, these troubles, this uncertainty. We can, we, we cannot help what we don't know.
[00:39:08] Ms. Sophie Thomas: Yeah. And I think it's given that time, isn't it? You know, as well as covering all of the sort of clinical symptoms, you know, clinical care and treatment options, it's giving that time to also sort of have a, how are you feeling about this? And is there anything that you're worried about and having those conversations?
[00:39:30] Dr. Monica Lopez : Mm-hmm. I agree.
[00:39:34] Ms. Sophie Thomas: What are the next stages of the Delphi consensus study? What practical guides are produced for pediatricians?
[00:39:44] Dr. Monica Lopez : I think it should be the second part of this. The consensus in rare diseases is a usual practice because we haven't enough patients to make more evidence with the diseases. Then I think we are thinking about this program to make some guidelines, not only for children in pediatricians, but also for the whole patients, because the alpha- mannosidosis is a continuous. Fortunately, the people who have this diagnosis, they grow up and they go to the adulthood. Then we will do, I think, a guideline in alpha- mannosidosis, not only in children. But in the panel of experts, we were, I think, 50-50, pediatricians and adult professionals.
[00:41:11] Ms. Sophie Thomas: What resources are available to connect patients and families? What patient groups, support groups are there in your rep? So I know from our organization, we have some, we have an information booklet specifically around alpha-mannosidosis. We can help with things such as guidance and information to inform supports, say within the educational setting, say we have provided presentations and talks for schools. We can help with sort of applications for benefits, housing adaptations, aids, sort of access to sort of college and work. We have some specific resources in the pipeline. So, you know, look forward to sharing those with you in the future once we've agreed those. I think for us as an organization, we link in patients. So obviously, we're UK-based, but we have linked in patient communities Europe-wide and globally. And there are other groups within Europe. Some of them sit within other MPS societies, such as the one in Spain. And some sit within sort of rare disease support groups or lysosomal storage support groups. So I think it's do explore, do get in contact. And, you know, if I can help or my other colleagues in other organizations can help link you in with a support group within your country, I'm more than happy to do that.
[00:43:23] Dr. Monica Lopez : Thank you very much for the audience. And I apologize for my English because I'm Spanish and it's my mother tongue. But it has been a pleasure for me to be here. Thank you, Sophie, for your work in the association and with MPS and with the alpha mannosidosis. See you soon.
[00:43:46] Ms. Sophie Thomas: Thank you all.
[00:43:49] Dr. Monica Lopez : Thank you. Bye bye.