What misconceptions are there about rare disease?

This week's episode of the podcast is a slightly shorter one, and this time, Lucy is the guest along with Dr Agatha, one of M4RD's ambassador's and a recent graduate from the University of Glasgow as well as being an academic foundation doctor in Newcastle.

They are both being interviewed by Y2 medical students from The University of Glasgow all about how they both got involved in their work and how people can help raise awareness about rare diseases.

Views, ideas and opinions expressed in this podcast are personal to the individual and Medics4RareDiseases does not accept responsibility for those expressed by guests.

M4RD receives funding from commercial companies which it works independently from. M4RD's Partners and Funders do not accept responsibility for any views expressed in this podcast.

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

Transcript

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The Rare Disease Podcast by Medics for Rare Disease. Listen, learn, advocate. Hi, everyone. Welcome to the podcast. I'm this is my co host. I'm Daniel. Hello. And please welcome our guests, Dr. Lucy McKay and Dr. Agatha Oliwa. Do you like to introduce yourselves? Yeah. Hi guys. Hi Danielle. Hi . Thank you for having us. My name's Dr. Lucy McKay, and I'm the CEO of a charity called Medics for Rare Diseases. I'm Agata. I'm a recent graduate from the University of Glasgow and I'm currently an academic foundation doctor in Newcastle. Thank you for having me on the podcast. Thank you. Yeah. Nice to, nice to see you guys. Well, can you just tell us. A bit about your background and how you actually got involved. I know it's quite a niche area. I guess my interest in genetics and then rare diseases started as an academic interest in genetics. Even like in high school, I really liked genetics and like, oh, molecular stuff and biology. In third year of medical school, we had a medical genetics week. And I was like, Oh my God. That is what I want to do, and that is when I also discovered clinical genetics as a specialty. So I decided to pursue this interest further, and I organized a few placements in the clinical genetics department. And there, I obviously met a lot of patients living with rare genetic disorders, and the more patients I saw, and the more stories from them I heard, the more I realized that even though their individual genetic disorders were rare, they had collectively common experiences. And I really wanted to get involved in that area. Yeah, so I suppose I've always been interested in genetics because my brother died of a rare genetic condition before he was born at the time. It was untreatable, which is not the case now, which is exciting. It's one of the really exciting things about rare disease that new treatments are being found all the time. Anyway, I did clinical genetics at the university. I did I did human genetics at the University of Nottingham, and then I went on to become a doctor. I did my training at bar, the London School of Medicine and Dentistry. I too wanted to be a clinical geneticist, but, it wasn't really destined to be. So while as a medical school, I started a society for students called the students, the Barts for London Society for Rare Diseases, because my brother's condition was rare. And I felt that the way that medical school taught about rare disease, was not really based on the experiences that I'd had growing up in the rare disease community and more could be done. And after starting this society, it got bigger and bigger. And sort of many years later, I am the CEO of a charity called Medics for Rare Diseases. So we do have an interest in genetics because 80 percent of rare conditions are genetic. But 20 percent aren't, and also people living with rare diseases, often the challenges might not be related to the genetic component of it, but to do with general awareness and what it's like accessing healthcare. So, you both obviously have a lot of experience with genetics and rare disease, but can I just ask, like, what is a rare disease, in your opinions? So in Europe, the definition is that someone has a rare disease if it affects less than one in two thousand people. Yeah, that's right. I love what you said there about Daniel. What's my, in my opinion, what is a rare disease? Because Agathe is absolutely right about the numbers. But what it is While rare is obviously and it is a relative term, so you're rare in comparison to something else, but actually rare is a experience. And actually, lots of rare conditions aren't rare, they're just rarely diagnosed. Is Ehlers Danlos really rare, or is it rarely diagnosed? And is it rare, or is it just not got a service? Or it just hasn't been appropriately looked after? Endometriosis, for example, is obviously not a rare condition, but people who have endometriosis can describe very similar experiences to those with ultra rare conditions. So really, what happens when something is rare is it means that there's less data And therefore there's less information, there's, you know less likely to be a decided diagnostic pathway or a service for it or treatment for it or funding for it. So, yeah, it's true. There's a number, but there's also the collective experience of a group of people that make something feel like a rare disease, regardless of its prevalence. Thank you. With rare diseases especially, there's a lot of misconceptions, a lot of people, as you said, none of us actually knew how many people were affected by rare diseases, as we, as we talked earlier. What do you think are, like, the common misconceptions, not with just the numbers, and like, how can we educate, not just, just the public? But like educate medical students people in health as well. How can we do that, raise awareness? Yeah I guess what we've been just talking about that people don't really understand that collectively rare diseases are common and that they, people living with those disorders make up a significant, significant proportion of our population. So just to recall the numbers again, there are over 7, 000 rare disorders and one in 17 people in the UK has a rare disorder. That adds up to 3. 5 million people, as Lucy said. So, That's definitely one big misconception. Another misconception, I guess, kind of, in medical education is that common things are common. Therefore, we need to learn about only the common things, and we can discard the rare things and never really know anything about them. And as someone who's recently graduated from medical school, I can say with certainty that this is still something that's really prevalent in medical education. You'll see, you'll see and hear it on placements so often that common things are common. Why? Why would, why would he even bother thinking about something rare? And I guess this is really important because if all of the graduates of the UK medical schools kind of graduate from medical school with this kind of perception that there's, why would they even bother thinking about rare disorders? Who's actually going to diagnose those conditions? And obviously. After you graduate, you still have postgraduate education, but I think it's really important that medical students understand rare diseases kind of as a topic on their own and understand kind of the general challenges that those patients face as well as the resources there are to help doctors diagnose those conditions and so on and so forth. I guess another misconception is that there's no treatment for rare disorders and kind of tying that with genetic disorders. If someone has a genetic disorders, there's nothing you can do about it. And some of that is true. Yes. A lot of the rare disorders still don't have a cure. There's always treatments and like specialist interventions, stuff like that, that those patients can be offered. Depending on what symptoms they have, they can be referred to specific specialists and so on. And I guess with, for genetic disorders, yes, there's, there's certainly no cure for most of them, but knowing the specific diagnosis, the specific molecular diagnosis can help the families in a lot of ways. Some of the ways is that if it's a child, the parents will know the inheritance pattern and that can inform their future productive choices. Knowing the diagnosis can help with the prognosis as well. So the parents or the, or the patient, if they're older themselves, I can kind of know what they can expect in the future to happen to them, and I guess also tying that with the technology that's developing and genetics and genomics and the new therapies. If someone has a specific molecular therapy, they might be able to be enrolled in a clinical trial of a specific treatment. So I guess for all those reasons, this is a big misconception that there's no treatment and there's nothing you can do for rare or genetic disorders. So I guess I'll stop there. Yeah, I think, and to put like a real life experience to that, for example is, say my, as I mentioned, my brother died of a rare genetic condition before, before I was born. There was no treatment back then. I mean, we had, you know, the gene hadn't been sequenced at this point, but in my late, late teens, early adulthood, I had watched people, young men with this condition going through. a clinical trial and now if you were diagnosed early enough today, you can really benefit from the treatment that is out there. And so that treatment's been available for years now. And, but when I was practicing as a foundation, year one doctor, we had someone doing some teaching on this area of conditions. And my registrar came in and said, Oh, what was the teaching on? And I said, didn't say my background in this. I just kept that quiet, but just said, Oh, it was about the, this condition and the set of conditions. And this registrar at this point when this treatment is available said, Oh, what's the point in diagnosing? There's nothing you can do about it anyway. So there's two sides to this. I completely echo what Agatha said. There's never nothing you can do in other areas of medicine when someone is. When someone is you know, at their end of life, we don't say there's nothing we can do for them. If anything, we take really proactive steps to help make sure that we look after their very predictable challenges and symptoms. So there's always something you can do for every patient. And I don't think anyone goes into medicine thinking that you would just give up on people like that. But also secondly, that's assuming, you know, the absolute current data and medical you know, me, medical advances on every condition there is. And when you were thinking that there's potentially 10, 000 rare conditions, you start to realize that that probably isn't the case. Like, you know, I don't know how often you revise innovations in rare diseases on a daily basis. So there's, it, it, You know, trying to I think part of what we're doing is also breaking down the misconception that any doctor can understand the whole of medicine and know and have a grasp on everything that is, is up to date in medicine. I also thought about other misconceptions, I think, within rare disease. So first of all, again, like Agatha said, the fact that they're rare, I mean individually, yes, but not collectively. Then also there's a few other things I just wanted to pay touch on just really quickly. They're not all genetic, so 20 percent have a genetic origin, but that doesn't mean they've always been inherited from the previous generation. Plenty of rare genetic conditions can be brand new in that family and maybe not even maybe brand new just in that one individual and it's, you know, not passed on. And also I think what comes with that, there's often this idea that rare diseases happen in consanguineous couples, you know, consanguinity is when people who are close relations who share a substantial genetic component are more likely to have find genetic recessive. Autosomal recessive conditions in their family because they've come from the same ancestors. But while that is a risk for rare disease, that doesn't mean that everyone with a rare condition or a genetic condition in their family doesn't mean there's consanguinity has caused it. And then the last thing I wanted to talk about is this. There's a term called dysmorphia that has been used in the past. And and what I would say is, you know, people often think that anyone with a rare condition will have a certain face type or look a certain way, or might not be able to, you know, might have a visible disability. Whereas actually about 50% of rare conditions are invisible. Yeah, 100%. And like you mentioned, Agatha, like they say, common diseases are common. So you'd assume before a rare disease, you'd assume, Oh, something else more common. And that obviously presents a diagnostic challenge. What other challenges do both the patients who are affected by the rare disease, but also their families face? So I guess, as you mentioned, it's worth talking a bit more about the diagnostic odyssey, which is essentially a term that we use for patients with rare disorders. Kind of as they go with their symptoms without any diagnosis, and I guess the estimates are different based on different studies and different regions, but the diagnostic odyssey can go on from anything from a few years to a few dozen years. And I guess some of that comes from the lack of awareness about those rare diseases. And I guess, as Felicity mentioned, you can't expect every single doctor to know everything about all the over 7, 000 rare disorders. I think every doctor should have some sort of like a framework to think about rare disorders and when they should kind of start considering them or who they can seek help from or where they can seek help from if they think that someone might have a rare disorder, but they don't actually know what it is. And I guess one other thing I wanted to mention mentioned with the diagnostic odyssey with. Medicine operates on doctors being specialists in a specific area. The cardiologists will only look after people's hearts and stuff like that. And a lot of rare diseases are mostly systemic. People have symptoms in various body systems. And if they go with a specific problem to a lot of different specialists, there's no one to kind of take a holistic view and look at all their symptoms and the other things that they're struggling with. and try to find a condition that fits with that. So I guess all those factors really contribute to the diagnostic odyssey and that can be a really isolating experience for patients. especially if they have symptoms and doctors either don't know what it is or kind of dismiss them. And if you don't have a kind of like a label for your condition, you don't have a diagnosis, it's also harder to access services. Every time you go to a doctor, you need to explain everything from the very start. And he might not be taking us seriously. You might also have Kind of struggles with accessing benefits and stuff like that because you don't have a label for it for your condition and another thing that's kind of tying with diagnostic odyssey. If you're seeing a lot of specialists, you might need to travel long distances, manage multiple appointments at different hospitals and so on and so forth. And I guess that also applies to patients who already have a diagnosis. Because they still need to see a lot of specialists for their symptoms. So obviously that can be one, tiring and also kind of for the financial strain, if you need to travel long distance to specialists, or if someone might enter a clinical trial that's in a specialist center somewhere far away. One of the biggest challenges is having a shared language to do with rare disease. So let's choose a familiar example. I said to you that my relative has cancer. I think anyone listening to this podcast, I think, you know, anyone in this office and you guys could think to yourself, I kind of know what cancer is, and some people know a lot more about cancer than others, but you can kind of have an idea of what that might mean for someone, and you can then use it. You could tell your boss that, or you could tell your child's teacher that, or you could, you know, talk to your friends about it. The problem when it comes to rare conditions is without that shared vocabulary, and within that the knowledge that comes under that vocabulary. Everyone is going out on their own every day, fighting a battle of trying to not only live with their rare condition, but constantly explain their rare condition. And not only their rare condition, but the fact that rare conditions are actually not that rare. So the teaching that I've just done for your colleagues, so you can imagine patients and their families every day are doing that every day for everyone they interact with. And it must be exhausting. And, and it must be exhausting. And I've I've recently, you know, with, there's lots of conversations in the last few years around racism, for example. And one of the things that I have learned about is like the burden of explanation of having to, you know, have, My experience of racism, racism versus someone else's is going to be very different. And I'm, I'm being a white person in Britain, I'm less likely to have experienced it than other people. But then the burden of explain, of someone having to, has experienced more racism than me, having to explain how it impacts them every day of their life. And I think that is starting to be able to understand. what having a shared vocabulary that people can immediately say, Oh, I understand. Okay. A rare disease. I understand that that must be really complicated. You must, did you take, take your while to get a diagnosis and do you know anyone else with a similar condition? Like is there treatment or are you involved in research? Yeah, but it must be really, really hard having to manage your own care, having to coordinate it and being able to just with two words. Show some empathy for your patient and take some of that burden of explanation off of them, I think is really, really important and really valuable. So I guess talking more about raising awareness for rare diseases, why is it important to raise awareness? I mean, I guess this ties in quite nicely with all the challenges that we've been talking about. If there is no awareness about rare diseases in general, or kind of. how they affect people and what challenges they face, then nothing is going to change. So awareness both from the general kind of population, general society, about knowing more about rare diseases so that they don't feel so isolated, so that they get more support, more awareness about obviously medical students and medical professionals to reduce that diagnostic odyssey to improve Kind of the, the, the support that they get in the healthcare system and the services that they get. How do we know what happens when things go, inverted commas, wrong? How do we know what different parts of our body do and different systems do? Often, we've learnt it through where it's gone, in inverted commas, wrong. So someone who is missing the gene or has a problem with the protein that is meant to do a certain job in the body, you then find out what that part of your genome or that part of the cell machinery does through that person. So a huge amount of what we know today is thanks to people who live with rare conditions. For all of those families, all the people who've gone before, who didn't get the benefit from the research that they gave their lives, their tissues, their blood, their DNA to. They're the ones who helped us get here. They're the ones who brought genomics to us. We are everything we do is thanks to what they did for us before. So it's this really, you know, quite an unhealthy denial of a population that has given us so much in terms of knowledge. So it's really important, not just for families now, but for families in the future. For us as people who live on this earth, who are part of the community, for us as medical professionals, us who are part of the profession that needs knowledge from their patients. It's not the other way around. If patients stopped coming to us and stopped talking to us and stopped giving us their data, then We wouldn't have a profession would be that we need them. Okay. So there's also that really, really impart important part. That's why awareness is really important as well. And okay, just to end it let's say if you were talking to some random member of the public, okay. And you had to tell them about rare diseases and their its significance, what would you say? I guess I would say. The thing that everyone in the rare disease community likes to emphasize that rare diseases are individually rare, but they're collectively common, and they affect a significant proportion of our society. Another thing I would say that those patients are not uncommonly forgotten about, and they have a lot of challenges accessing the healthcare system. And that ties in with the first point that this is a significant. Proportion of our population that has struggles accessing health care system and faces multiple disadvantages, and we really need to do something about this. Yeah, I think I, I would say. If we're talking about the general public, I'd say that people living with rare conditions are everywhere, but despite this, having a rare condition or having a family member of a rare condition can be extremely isolating, and Everyone, especially healthcare professionals, can play their role in bringing in the rare disease community from the cold and making sure that they are provided the same dignity and compassion as anyone with a commoner condition. Thank you both so much for coming on here today to talk to us and shed a light on the challenges that people with rare disease face and also different ways that people can get involved in helping to raise awareness. Well, thank you to both of you for being like keen to do this. It's just been amazing. This is an amazing opportunity for us to have been able to talk to you both and to have been invited to do this. So you're part of the change. Yeah, thank you for having us. That's a goodbye from us, and that's a goodbye from Dr. Lucy and Dr. Agatha.