Transcript
Speaker: Hi, I'm Sylvain Bertolo and you're listening to On One Condition, a podcast to raise awareness about health conditions by listening to people who leave them every day. My guest today is Amanda Cole and we're going to talk about Malan syndrome.
Speaker: Hi Amanda, how are you doing? Hi, morning, I'm very well, thank you. How are you? um Great, thank you. Thanks for joining me. So we're going to talk about your son, Ben, and Malin's syndrome shortly, but I always love starting with a song. So could you tell us which song you chose and why, please?
Speaker: Absolutely. So the song I chose, it's called No Such Thing as Normal and it's by a group called Electric Umbrella. Electric Umbrella is a UK-based charity and it uses music, live gigs and interactive workshops to empower learning disabled and neurodivergent people.
Speaker: Their mission is to make kind of inclusion a lived reality in the community so they also raise awareness and do public performances. And they visit schools to run workshops. And they're run by learning disabled individuals kind of at the center of them. And they've done several workshops at my kids' school. And they do they've they've produced these really amazing songs. You can find them on Spotify. And this this one that we love is called No Such Thing As Normal, which is really a celebration of difference and individuality. My son performed this with his whole class at ah a school assembly. And it was just really joyful to
Speaker: to watch everyone enjoying it. So that's my chosen song. That's amazing. Thank you for sharing that song, because that's a very, very nice project. And I discovered it thanks to you.
Speaker: Right. So we're talking about your son, Ben. I guess it's probably best to start at the beginning of his and your journey with Malan syndrome. So when did you become aware that Ben had something that was affecting his health?
Speaker: So fairly early on, although it took a long time to piece together, Ben was born in 2019. He's seven now. Two very happy parents and ah a big sister. He has a big sister who's a couple of years older than him.
Speaker: but His first few years of life were quite challenging, particularly the first couple. He had quite a few early complications, lots of issues around feeding and gaining weight initially. he was quite a weak baby, quite sort of floppy.
Speaker: We were in and out of NHS appointments and A&E trips for various things around breathing, around infections. He had hearing problems. an eye squint, low muscle tone, and a rather rapidly growing head circumference as well.
Speaker: We had quite a critical, a near critical incident when he was just six weeks old, where he became extremely unwell with a temperature. i took him to A&E and while I was in the waiting room, noticed that he'd stopped breathing.
Speaker: Had to run him down the corridor shouting for help. They took him from me and he had to have two rounds of CPR. to get him breathing again. So that was a huge sort of event. It turned out that he'd had bronchiolitis and viral meningitis at the same time and his little body was just too weak to fight them properly.
Speaker: He recovered well from that. But over the next kind of year or two, all of the quite generalized delays that he was experiencing, like around his development in general, they were often kind of attributed to that event when he was when he was a baby.
Speaker: um So he was late to smile, he was late to roll and babble, but they were these were all quite generalized development things. And so the medical professionals kind of viewed this incident at six weeks as being the reason why you know he was set back at that point and was taking a while to catch up.
Speaker: But they were confident that he would catch up because they didn't see anything kind of systemically wrong But there were just so many things. So before the age of two, we'd had 12 stays in hospital, two brain um MRIs, two sets of surgery for a couple of different things. So a lot of kind of acute medical things and generalized issues around hearing and his vision.
Speaker: brain anomalies that were found in imaging and a global development delay. But because they felt so disparate, it all just felt really unlucky. and it wasn't until Ben was four that a neurologist suggested doing a genetic test to see if there was a unifying kind of diagnosis that could be found.
Speaker: It hadn't, to be honest, even occurred to us before then or seemingly to to any of his medical professionals either. So he had a blood test and my husband and I did as well.
Speaker: whole genome sequencing as part of the 100,000 Genomes Project. And about eight months later, when Ben was nearly five, we got the result, which was that he has Malan syndrome.
Speaker: Do you think you would have had a faster diagnosis if it hadn't been for that event when he stopped breathing? That's a good question.
Speaker: I'm not sure, but i suspect not. Although it was kind of referred to quite a bit early on as potentially the reason he was behind... I do think that his symptoms were, like I said, it's so disparate and so generalized.
Speaker: And obviously all kids develop at different rates. That's natural. So I do think it takes time, unless you're working with clinicians who are accustomed to these sorts of symptoms. And because, I mean, since the diagnosis, I've learned that there are so many of these kinds of conditions. And I can explain a bit more about Milan syndrome in a bit. But there are so many of these rare syndromes which share so many commonalities.
Speaker: And I think if medical professionals are more aware of some of the key signs which unify a lot of these sorts of diagnoses, then better equipped to ask those questions earlier and to to look for, you know, to do the tests earlier. and Because I think that would be very helpful because it's unlocked an awful lot of knowledge and understanding for us.
Speaker: Mm-hmm. So yeah, for us, that diagnosis really just tied everything together. So what we felt initially like just a lot of bad luck and seemingly unconnected issues, we now know that they're all in fact symptoms of a condition he was born with, which is Melan syndrome. And it also, in a way, and I expect you'll have heard this a lot, knowing that kind of it's it's in his genes and it's nothing that we...
Speaker: did or nothing in his environment it wasn't that six week episode for example if he hadn't caught that infection like knowing that there was a there was a reason beyond that and his environment was in a way reassuring in another way obviously devastating because you realize that this is his DNA and there's no Because we won't catch up. We know like we know that when we when we got the diagnosis, we understand the prognosis better. that's obviously helpful
Speaker: in the That's obviously helpful, but obviously it also takes on ah a bit of getting your head around initially. Did you have access to any information about Malan syndrome when you got the diagnosis?
Speaker: So very little. The person that communicated the diagnosis to us was a neurologist, in fact. She didn't know anything at all. It wasn't until a couple of months later that we spoke to a geneticist.
Speaker: But where we got our information wasn't wasn't from the geneticist either, really. It was from a hub of information we found online. So there's a foundation, the Melan Syndrome Foundation, which which was set up by parents living like us in 2019.
Speaker: So still relatively new. So Melan syndrome was only first characterised, only given a name in 2010. and So there was not a lot known about it, full stop.
Speaker: But what we do know, what we can know is all kind of brought together. The Foundation of created a really useful set of resources, and which they have on their website, including what we know about the condition, what the symptoms are, what kind of supports we should seek, which medical professionals they should be monitored by.
Speaker: And that is hugely helpful and it's where we were able to find what is known. um And it's also how we are able to share with medical professionals as clinicians and also school. We're able to share these resources with them because anyone you meet, though they won't have heard of it.
Speaker: And it gives us a ah physical as well as a kind of a prompt sheet for us to know, to it to be able to explain what it is and what the symptoms are and therefore what kind of support or monitoring he needs.
Speaker: Yeah. Because, yeah, it's an ultra-rare genetic condition, neurodevelopmental. It's from a ah random spelling mistake on the NF1X gene, which is on chromosome 19.
Speaker: It codes for a protein that is really important for brain and muscle development, among other things. And essentially, individuals with Melan syndrome don't produce enough of that protein. Okay. And it causes a range of issues, um intellectual disability, skeletal abnormalities,
Speaker: vision and hearing problems, anxiety, and often epilepsy. So yeah, I think there are around 450 people diagnosed worldwide. So one of the ultra-rares.
Speaker: There's no treatments, but there is some early kind of lab-based scientific research going on, coordinated and funded by this excellent foundation that I mentioned, Maman Syndrome Foundation, with money from donations from families mostly.
Speaker: Wow. Okay. So you talked about the symptoms in generic terms. How is Malin syndrome affecting Ben specifically?
Speaker: It's a kind of a head to toe thing as a lot of genetic conditions are. What is most obvious when you meet him, what's most apparent is that he is developmentally delayed. He has an intellectual an intellectual disability. He's seven years old now.
Speaker: Cognitively, he's probably more like three or four in some respects. Communication is is especially challenging for him. He and ah and always has understood a lot more. is ah His understanding is a lot more advanced than his communication, but it is improving all of the time. So a couple of years ago, he maybe just had a few words that he could pronounce clearly.
Speaker: he used Makaton signing a lot to support that communication. so we use that at home and in nursery and school as well. But he's now speaking in sentences, although he can be quite hard to understand if you don't know him very well.
Speaker: if you don't understand how he pronounces things and also if you don't know what he's likely to be trying to tell you or ask you or explain to you. But yeah, it's improving all of the time. That's kind of the, if you meet him, the the most obvious thing. Other things that impact him though, and something actually we've learned through the diagnosis better than we would have if we hadn't had that, is the vision.
Speaker: So he has very thin optical nerves, probable cerebral vision impairment, cbi And when he was small, that manifested very clearly as, but so he lacks depth perception, basically. and So when he would, for example, walk on a flat surface in a playground, say, and if if there was a ah point where tarmac met grass,
Speaker: he wouldn't understand what the change was and he would sort of sit on his bottom to kind of shuffle over it because he could, it's like he couldn't tell if there was just a a sudden drop or, you know, what it was. And I think that's, that's a depth perception thing. And I've now learned that it's, it's extremely common for the kids with Melan syndrome.
Speaker: And yes, that he's he's now registered partially sighted and the vision impact him in ways that now we know about it are much clearer, but his, his brain has kind of learned to compensate. So,
Speaker: It feels like his vision is impacting him a lot less now, but I think it is that it is impacting him less because he's learned for ways to compensate rather than that his vision has improved. So for example, he now understands that if you're walking next to a road...
Speaker: On a pavement, there'll be a short drop between the pavement and the road. And his his brain is able to has learned that pattern. And so when he steps off a curb or steps up onto a curb, he does a big step because he he knows, he's learned that there's normally a short drop there. So rather than, that's just an example of how he has adapted and how things seem to impact him less as he's been growing up,
Speaker: But yeah, having the understanding and having the diagnosis has has meant that we've been under the care now of specialist teams, specialist eye teams it in the acute setting, but also in school. So he has a vision impairment experience.
Speaker: teacher who comes in and gives the school advice about what they need to do and how they can improve the way that he's able to access the cur curriculum and and books and how you know the size font he needs and and how visual clutter impacts how he how he's able to access what they're showing him so an example really of how the diagnosis and understanding more about how that it is impacting him has really helped him access the support that is that is um helping him to thrive and to make the progress that he is able to make with all of the challenges that he has. Yeah.
Speaker: I find that incredible that there there are consultants, like you just mentioned, the visual impairment teacher who is there to help families and children like Ben. yeah Yeah. Other input he has is speech and language therapist, obviously, and um occupational therapist as well, which has been hugely beneficial for us.
Speaker: and Is he attending mainstream school? He's at mainstream with an EHCP, which is an education, health and care plan, which is essentially a ah written document outlining all of his his needs and outlining what supports that will help him to to help him to achieve his potential and achieve his goals in the mainstream setting. So he receive he's in a a class with his classmates in his mainstream school, but he has essentially a one-to-one teaching assistant.
Speaker: They sort of adapt what the whole class is learning. to what kind of what he can access. And so they will adapt the lesson or the the bit of work that he's doing within that to a level that is is kind of appropriate for him and that he's able to make progress on.
Speaker: But he absolutely loves, you know, being part of the class. He's got a lot of friends. He's quite popular. He's quite well known. He seems to be a minor a celebrity when we go out. and of People often come and say hi to him and I've got no clue who they are, but he seems to leave leave an impression. He's a very well integrated at the moment, a very well integrated part of the the school and the class.
Speaker: It may be that in the future we look for specialist provision and I imagine that as you get to older that that may become more and more relevant. So yeah, that's that's definitely something we're open to, which in itself feels like a growth thing for us because i mean early on when he first got the diagnosis, the thought of that felt very disappointing.
Speaker: But this whole journey is an adaptation, isn't it? And I now don't have that ah feeling at all. And I think we'll keep him where he is whilst it's working for us and working for him.
Speaker: And when it's not, we'll look elsewhere. Was it difficult to get all the support you need, especially in school? Was it a fight? Our experience and everyone's experience is obviously very, very different.
Speaker: Our experience has been fairly smooth, I'd say. i think it helped that we started very early on. So before we received the diagnosis, we were already kind of on the pathway when he was still at nursery, he'd started to be seen by relevant professionals and we were starting to build up a picture of of what his needs were.
Speaker: The diagnosis added to that and really helped, I think, evidence it. And I think that probably did help in you know getting the EHCP and the revision that's written into it.
Speaker: I know that these things do often turn into a fight and that's awful for us so far. And I have no doubt that this this may change over time, but it obviously takes quite a lot of work. is's a lot of coordination, but we've been lucky with the with the people that we've met and that have helped us along the way.
Speaker: But it is definitely something that is it feels too reliant on the family and the parents kind of pushing for for these sorts of things. i haven't met any brick walls yet, but I don't doubt that These things come from pioneering and being the ambassador for your kid.
Speaker: Yeah, and it's a learning curve for everyone, I think. But it's good to hear that it's been a smooth process for you because I've heard different experiences from other parents.
Speaker: But I think you're right, it's putting yourself in in that driving seat. yeah And if you see that things don't progress, then pushing for those things. yeah And that's not a that's not how it should be, is it?
Speaker: And it's not particularly equitable because it relies on having that person whether it's a parent or a teacher whoever it is kind of in your in your field like fighting for it it shouldn't be that way these things should happen in the systems that are there but yeah it's the reality at the moment and I'd say the same for the medical care really as particularly in rare diseases families often find themselves to be the care coordinators so we obviously have countless appointments for Bairn They fall under 11 different medical specialties.
Speaker: The touch points and specialties are geographically spread for us across four different counties. So and on on top of the inconvenience of that, there's obviously a huge challenge in sharing information. They're on different data systems. For example, I need to send my community pediatrician's reports to my consultant pediatrician because they't they don't consider sit on the same data system.
Speaker: which is So I'm emailing these this stuff, which is crazy. So yeah, we are we definitely take on a care coordination role, which I'd say is very self-driven. it shouldn't be this way, but it is often the families who are you know pursuing the tests in the first place, pursuing the referrals, pursuing the follow-ups.
Speaker: To some extent, it's it's similar in their education setting. But I'd say in general, that's a big big issue, for particularly for rare diseases where there's just very little information, but where we're learning a lot as we go. Yeah.
Speaker: ah Talking about that, you mentioned the Mallon Syndrome Foundation. i know in rare diseases, community is extremely important, but with only 450 people diagnosed, do you still have this sense of community and can you still have an impact through something like the Mallon Syndrome Foundation?
Speaker: Yeah, absolutely. Yeah, that power to connect with other families going through the same as you is really powerful and really important. We are always learning from Ben, but now we have the diagnosis, we're able to learn from attorneys and experiences of others.
Speaker: And that's that's huge. And sometimes it might be in the form of tips or tricks to deal with some of the characteristic cheeky behavior. It's amazing what the commonality is actually between individuals with Lyman syndrome.
Speaker: So little tips and tricks, but also understanding medical symptoms that may lie ahead in our future. that we know about now because of those connections and because this of the of the community. So we have a ah WhatsApp chat, for example, and through there we're learning as we're as we're hearing about those those different experiences.
Speaker: For me as well, as an individual, i find it very powerful to be part of the picture where we're we're we're collecting more information and more data on the condition.
Speaker: So I'm a researcher, I'm a health economist. You know, I understand the power of that data. So all of those, you know, symptoms and experiences we've experienced so far with Ben, combining that with you know, the 400 odd other patients with the same diagnosis through international registries, which the ah foundation are coordinating, we can start to build a better picture of the natural history of the of the disease.
Speaker: And that's really where the science can start. And the the foundation are also investing in, as I said before, kind of early scientific research. It may be that one day we can work toward a kind of treatment Without the data kind of giving us the baseline for for how this condition manifests and how that evolves over time, without that data, we won't really properly be able to evaluate any treatment.
Speaker: So, yeah, I'm very happy to be able to contribute to that better picture that we're able to to get over time of Milan syndrome. Yeah, and that data is especially important in rare diseases because there's so little, especially for Mahlan syndrome. so So few people who live with the condition.
Speaker: Do you know if that number is actually that low worldwide? Or do you have a feel for the lack of ability to diagnose in other countries, for example?
Speaker: Yeah, I'm totally convinced that it's a huge underestimate of the actual no prevalence of the condition, evidenced by the fact that most of the diagnoses are in the US, in the UK, in Italy, Spain. It's where the testing is more common.
Speaker: Obviously, whole genome sequencing, it's a relatively recent advance. And it's only through that kind of testing that you that worry that you're able to diagnose this sort of condition.
Speaker: i'm I'm convinced that it's a huge underestimate of the real, the real prevalence. And it's why, you know improving access to diagnosis is such a big deal. Well, first and foremost, to give families and patients the the power to understand their condition better and to understand the symptoms, ah the sorts of management um that is is going to help support someone.
Speaker: But also, you know the larger the population is, the more you can understand, the more investment you can put into better care. better treatments and better awareness.
Speaker: So I think access to diagnosis is the start for all of that. It definitely should be a huge ah huge importance globally. Yeah, and then if you're more aware of of the actual impact on the global population, then you have more chance of being able to have research and more funding for research. Exactly.
Speaker: I'm interested in your profession in health economics. I assume that's something you did before Ben was diagnosed. Yes. Has Ben's diagnosis and you caring for Ben and so on, has that changed the way you approach health economics now?
Speaker: Yeah, I think having personal experience in anything gives you a very different, a very complementary insight. For sure. So yeah, health economics is all about measuring and capturing things.
Speaker: for example, treatment effectiveness, but balancing that against the cost and working out what that what the ah that optimal trade-off is. Specifically, i do a lot of work around incentives for innovation.
Speaker: So how yeah know the way that we evaluate healthcare policies or treatments, how the way we evaluate or approve or reimburse those impacts the incentives for developers.
Speaker: So the companies that make the drugs or the devices, to bring those products, to invest in those products in the first place and then to bring them to market. Rare disease is obviously quite an interesting and challenging case for investment in research because populations are very small and so population size effectively influences in a big way the ability to make a return on your investment.
Speaker: yeah So very small population sizes obviously make that very challenging and we have We've tweaked the way that we approve drugs, for example, that are designed for very small populations to make it easier and to lower that hurdle. And likewise, in many countries, we have a higher sort of willingness to pay for drugs that impact rare disease patients based on you know having much a much higher unmet need.
Speaker: So we have these policy instruments that we you know can tweak to try and address that problem in some way. But still, um and we have seen huge impact of that and we're seeing gene therapies now that are having you know massively...
Speaker: important and impactful effects on on rare disease patients. But it's still for a very small you know minority of conditions. And I'd say it's probably the more the more common rare diseases a way.
Speaker: But the science is evolving all of the time. And there are some really exciting developments around you know individualized therapies, which are hugely exciting scientifically.
Speaker: the reimbursement challenge And the investment challenge is definitely still there. yeah We need to rethink how we are approving and paying for these to make the science become a ah reality.
Speaker: because I don't think his systems are ready for it yet. But, you know, with his improvements in diagnoses and with the ever-expanding knowledge of how big this problem is, rare genetic conditions in general, we're going to have to work out ways to accommodate the science which can make which is making such meaningful progress and has the potential to have a huge impact for these rare conditions.
Speaker: Yeah, from the podcast. I only see a tiny portion of the whole spectrum of rare diseases, obviously. us But there's so many great stories of science really being interested in rare diseases, often pushed by foundations like the Mann syndrome and of parents themselves.
Speaker: This um mantra you hear around individually rare but collectively common, yeah that's absolutely the case. Together, think there are i think around 7,000 rare diseases. They affect millions and millions of people worldwide. It just happens that within that huge population, we have many, many different different conditions. But yeah, altogether, it's a huge problem and one that you know society needs to understand and yeah and support progress in.
Speaker: Yeah, it's this tension between wanting to well do research and and bring medicines to market for those patients, but then what you talked about in health economics and trying to find ways to make it not too expensive for patients and families.
Speaker: Going back to Ben, i love what you shared about how he's integrated at at school and so on. Through the Malin Syndrome Foundation and and talking to other families, do you know what his future is ah is likely to be and what level of support he's likely to need?
Speaker: So not exactly, but we we have ah oh yeah we absolutely have a better idea now than we than we did a few years ago before the diagnosis. I think that he will always need support. I don't think he's going to be totally independent when he grows up.
Speaker: I understand from the experiences of others that as they grow, anxiety, which seems to also be quite universal, anxiety really starts to impact them in a big way, and particularly when puberty hits, I think.
Speaker: We're definitely aware that that could become, and behavior can become increasingly challenging as they grow up as well. yeah Yeah. Yeah, particularly, potentially for that kind of adolescent window.
Speaker: We've been lucky enough to to meet with several families. We attended this summer melanne syndrome foundation every two years run a family and scientific conference so we got together in philadelphia and were able to yeah meet all these families mostly us-based but from other countries as well and yeah ages ranged from very very small up until there was a someone in their fifty s with melan syndrome and another some other young adults as well and it was obviously really eye-opening to meet with them it gives you a little glimpse about what the what the future could look like yeah which is obviously quite emotional it's quite a lot to take take on board because we have ben and ben is ben and we don't really think so much about
Speaker: what his future could look like. It feels quite a long way off. yeah and So being confronted with that is quite, it takes a lot to get your head around, but is obviously helpful.
Speaker: It was quite uplifting to see particularly how there was a and a group of teenagers with Melan Syndrome who formed a real kind of what seemed like a really great and quick bond together and and they were kind of hanging out and dancing together and it was very sweet.
Speaker: to watch also having having a community is yeah super insightful to to think a bit more about what the future could hold and whilst that is it's a lot to get your head around to adapt to but is obviously helpful and and gives us at least some idea of what what might lie ahead Yeah, and love that. i love hearing about her that conference. And I imagine seeing people in person as well must be so great. Yeah, hearing about their experiences. And we had ah like a parent panel where my parents shared shared their experiences so far. And obviously, everyone's experiences are very different. And also, Melanne's syndrome is a spectrum. So no individual child or the challenges they face are the same.
Speaker: But getting a glimpse of of others' experiences, hearing as well from beautifully articulate siblings of individuals with Melan Syndrome was yeah was really lovely and very helpful.
Speaker: Nice. I have one last question for you, and you can choose to answer for yourself or for Ben. What's your or Ben's happy place, a place where you feel at peace?
Speaker: oo happy and peace don't sound the same thing to me. Not what I'm thinking of Ben anyway, because happy means high energy. don't really agree that with peace. Happy place.
Speaker: The first thing I think about is our kitchen with the lights down and the disco lights up and kitchen disco time is probably our happy place and where Ben in particular is ecstatic because he loves music and loves to dance, has a very characteristic dance style, which involves a lot of jumping, a lot of hip wiggling, quite a few roly polies.
Speaker: So yeah, that's probably our happy place in the kitchen dancing. And it's a first for the podcast because no one's ever mentioned a kitchen disco. So that that's something. thing ah Well, that sounds very nice.
Speaker: But yeah, thank you so much, Amanda. Again, i mean, rare diseases. I love the community approach and Malin syndrome doesn't seem to be the exception here where the community is very strong and and it's very lovely to hear about that.
Speaker: and Ben seems to be doing great and have a lot of energy. So wish you and and Ben the best future. Thank you very much. Thanks for having me.
