Not Just Patients

Advancing Rare Disease Care through Patient Advocacy | Emily Reuben OBE

• Caitlin and Clarinda • Episode 24

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Join us for this special Rare Disease Day episode with Emily Reubin OBE, Co‑founder and CEO of Duchenne UK, as we talk about transforming grief into impact and reshaping rare disease care through patient advocacy.

Emily co-founded Duchenne UK after her son was diagnosed with Duchenne muscular dystrophy (DMD). Emily launched the Duchenne Children’s Trust in 2012, which later merged with Joining Jack to become Duchenne UK. Emily is a leading advocate for patients, representing the community at the FDA, EMA, MHRA, NICE, and SMC. Emily was awarded an OBE in 2023 for her services to people with DMD.

In this episode, we delve into the realities of rare disease — the underappreciated “cluster bomb” impact on families, the emotional toll of diagnosis, and why current systems are not built for complex paediatric conditions. Emily shares her personal story of her son Eli’s diagnosis, the early years of devastation, and how she and co‑founder Alex Johnson built Duchenne UK into international force in disrupting clinical trials, standards of care, and health technology assessment for rare disease.

Emily offers deeply honest reflections, practical insight, and tangible examples for rare disease patients, caregivers, advocates, and all stakeholders involved in rare disease care.

Chapters

  • 00:00 – Introductions
  • 01:40 – Emily's story
  • 13:00 – Starting a rare patient advocacy group
  • 16:55 – Challenges in rare disease care
  • 20:12 – Role of advocacy in advancing rare disease care
  • 27:35 – Getting into the right rooms (and feeling welcome)
  • 30:34 – Redefining standards of care
  • 35:55 – Overcoming reimbursement challenges (Project Hercules)
  • 49:52 – Emily's long‑term dream for rare disease care
  • 50:34 – Advice to rare disease advocates and healthcare stakeholders
  • 54:01 – Reflections with Caitlin and Clarinda

Resources & abbreviations

Have feedback or suggestions for us? We'd love to hear from you!
Website: notjustpatients.com
LinkedIn: Not Just Patients
Email: info@notjustpatients.com

Introductions and episode overview

Emily

I went to a meeting with the FDA. One of the committee members said to me, Don't bring me a room full of crying mothers. And I really was like, Wow, okay.

Caitlin

Hi, I'm Caitlin.

Clarinda

And I'm Clarinda.

Caitlin

And this is Not Just Patients.

Clarinda

A podcast where we break barriers to meaningful patient involvement in healthcare.

Caitlin

Thank you so much for tuning in to our special Rare Disease Day episode. Our guest today is Emily Reuben, OBE, who is going to talk to us about advancing rare disease care through patient advocacy.

Clarinda

Emily co-founded Duchenne UK after her son was diagnosed with Duchenne Muscular Dystrophy, DMD. A graduate of Oxford University and former Channel 4 News and CNN International Journalist, Emily launched the Duchenne Children's Trust in 2012, which later merged with joining Jack to become Duchenne UK. Emily is a leading advocate for patients representing the community at the USFDA, the EMA, the MHRA, NICE, and the Scottish Medicines Consortium. She has served on the Association of the British Pharmaceutical Industry, Patient Advisory Council, MHRA Consultative Forums, and the Innovative Licensing and Access Pathway Steering Group. And now sits on the board of the Association of Medical Research Charities. Emily was awarded an OBE in 2023 for her services to people with DMD. Emily, what an honor. It's really, really lovely to have you here. To celebrate Rare Disease Day, thank you for joining us.

Emily

Thank you so much for having me. I was really thrilled when I got the invitation. It's an honor

Emily's story: from journalism to rare disease advocacy

Emily

to be here.

Clarinda

So I know that you have a really personal and emotional story to your journey in advocacy. We'd love to hear more about your story and what got you on this whole journey.

Emily

Wasn't where I imagined my life to be. You know, when I was a little girl, I dreamed of being a journalist and I came from a very creative family. You know, my dad was a violinist for the London Symphony Orchestra, and my aunt actually was the first woman to win the book prize. So I grew up in a very culturally rich, loving family, and I wanted to be a journalist. That was my dream. And I had to fight really hard to get there, but eventually I landed my dream job as a reporter and presenter for Channel 4 News, and then later CNN. And then almost out of the blue, my son, my firstborn child, my precious Eli was diagnosed with a Duchenne muscular dystrophy. And overnight I went from covering other people's tragedies, really to being at the centre of my own. And, you know, that moment of diagnosis, I think, is so deeply profound and shocking. You know, there I was thinking he was growing up to be the next Jude Bellingham, where in fact his muscles were dying on him. And even from birth, his muscle strength was 20% weaker than your average baby, which is why he struggled with all the little things that my friends found so easy. So he was diagnosed at three and a half, and for a long, long time I was just bereft and shocked, and had no idea how to process, manage, or even, I guess, respond to what that diagnosis meant.

Caitlin

Yeah. I mean, I can't even begin to imagine, Emily, what that's like. I mean, it's interesting, Clarinda and I have discussed this a few times. So I was diagnosed with cystic fibrosis at three months old, and I bore none of that burden myself. But I can't even imagine what the impact was like on my parents. I was their first child as well. And the wider family, because you know, to a certain extent, for myself, again, it's all I've ever known, so it wasn't such a big shock, it was just something I grew up with. But also, you're not caring for yourself at that point. There's a whole family around you who have to do that, and I can't quite imagine what it would be like. The sense of worry for your child, and also I guess, especially with rare disease, that sort of helplessness that you must have felt. And I suppose that is what led you to eventually founding Dchen UK. And I wonder if you could talk a little bit about that process that you went through from a career in journalism to running a patient organization.

Emily

Yes, it wasn't easy. And initially I just couldn't imagine how my skills as a journalist would have any bearing at all on running a patient organization. But actually, there were so many skills that I learned as a producer and a correspondent that were transferable. You know, the idea of being led by truth, being led by evidence, that's one of the founding principles of Duchenne UK, and I think that's critical. Being able to explain your narrative and express yourself in a meaningful way to various groups of stakeholders is absolutely key. So, you know, my background actually did help an enormous amount. Well, in one way, I was extremely lucky because this story isn't really about just Emily Reuben, it's also about an incredible woman called Alex Johnson. And she's from Wigan in the north of England. I'm from London, and we never would have met had it not been for both our sons being diagnosed with Duchenne. So Eli was diagnosed when he was three and a half, and her son, Jack, was diagnosed at a similar time. And we met in the ladies' lavatories at a conference for Duchenne in Birmingham, shortly after our sons had been diagnosed, and we were both broken and we were crying in the loser. And she had set up a charity Joining Jack, and I had set up Duchenne Children's Trust, and that was a friendship that has enabled us to achieve what we've achieved because we're in it together. And I think the story of Duchenne UK is if I look back now and see everything we've achieved, it feels like it was a linear planned 10-year strategy. It was anything but that. So Alex had set up joining Jack, I'd set up Duchenne Children's Trust, and we ended up funding a few things together. So in 2016, the obvious thing to do was to merge and form a national organization called Duchenne UK, and that's what we did. And I think if you want to look at the story of how we grew, it was really that lived experience as a patient expert. So every time we came up against a barrier for our sons, be it care, be it access to clinical trials, be it new treatments, that was what motivated us to look at those challenges, understand them, and change it. So, you know, the four guiding principles I would say of Duchenne UK are we disrupt, so we come in, we see what the problems are and we disrupt them. We innovate, so we create innovative solutions, we create, so we embed that innovative solution into the ecosystem, and we accelerate because we don't have time. You know, our sons have a pediatric progressive rare disease. So I think those are the four things that have guided Duchenne UK. And I'll give you one example. So when the boys were four or five, we wanted to get them onto a clinical trial, and there were very few clinical trials back in those days. And when your son is diagnosed at Duchenne, you feel like you are on the Titanic and you're drowning. And a clinical trial is a lifeboat. There's the opportunity for hope, there's the opportunity to potentially give your child a disease-modifying treatment. But in the UK, we couldn't access those lifeboats because even though we had some of the key opinion leaders internationally, we didn't have the infrastructure to be able to recruit boys into clinical trials. We didn't have enough nurses, clinical trial coordinators. So we convened a meeting of all the stakeholders. We set up what's now called the Duchenne Hub UK, which is a network of clinical trial sites. So when Eli and Jack were diagnosed, there were only two hospitals doing very little research. There are now 11 hospitals around the UK, all of them running clinical trials. There are now over 500 boys taking part in clinical trials in Duchenne muscular dystrophy. We've invested nearly 4 million pounds in funding those doctors and nurses. Not only that, we created a very innovative funding model with NIHR, where we funded 100% of the post in the first year, and then that tapers down to 50 and 20%. Meanwhile, the money that comes in from industry is reinvested into those posts so they become self-sustaining. And the final piece that we did was to create what's called the clinical trial finder, which is like clinicaltrials.gov, but it's a really brilliant resource for patients in the UK to find out what clinical trials are happening where, how to register your interests, and how to take part in research. Because, you know, we want the UK to be a beacon of activity for clinical trial research.

Clarinda

Yeah, I can just see the passion Emily coming through, and it's clear that that was a driving force. I'm gonna ask you to backtrack a little bit. I live with a rare disease. I was diagnosed at 25, but I am a mother. I have a four-month-old son and I have a five-year-old daughter. So now I can kind of put those two together and imagine myself applying my rare disease diagnosis to my children. And I can imagine my brain just exploding because with my own rare disease, as a science communicator, being able to find so little information out there and completely relating to your feelings of being bereft and feeling like you're drowning, but magnified exponentially, if it were, my children in that situation. So, how did you get from that place to this powerhouse state that you're in now?

Emily

Well, and by the way, I really appreciate you both sharing your personal stories because I think that lift experience is absolutely critical to understanding disease and needs to be at the front and center of everything, of all decision making. So Duchenne muscular dystrophy is a pretty gruesome disease. It's diagnosed in childhood, it mainly affects boys, and it's severely disabling and life-limiting. So, you know, when Eli was diagnosed, he was three and a half, he was running around like any quote-unquote normal looking child, although I hate that word, but you know, he didn't look like he had Duchenne to the untrained eye. And while he was playing in the room outside, the doctors said to us that he would be in a wheelchair by the age of 10 or 11. He would be completely paralyzed in his mid-teens, in what should be the prime years of his life, and that life expectancy is early twenties, and that he would die of respiratory or cardiac failure. And to say that to a parent whose son is three years old, cataclysmic, and I just fell into a chasm of despair and unimaginable grief. I felt like I was built of glass, and if someone just touched me, I would shatter into a thousand pieces. And I speak to newly diagnosed families, and I'm heartbroken every time I do because I know that that point of diagnosis is the darkest place that anyone will ever go to. And I can say that now without crying because, well, I'm on antidepressants, which most parents are, and I'm lucky to have a really amazing therapist because otherwise I think the strain of having a child, diagnosed with Duchenne, the strain that it puts on your family, the strain that it puts on raising other children. I've got two, you know, incredible daughters. I want to be a mother for them, I want to have a happy marriage with my husband, you know, and those things you have to really fight really hard for when you're dealing with this cataclysmic piece of news. So I would say that how I went from that Emily Reuben to this Emily Reuben is crying an ocean of tears every single night for the first three years, having to dig so deep when I'm trying to educate myself about Duchenne. You know, in those first few years, Alex, I talked about my co-founder, we traveled the world meeting scientists, meeting regulators. We lobbied at the FDA. We made it our business to find out who was doing what in Duchenne and how could we help them. We had to sit through hundreds of presentations where we watched that slide showing the natural history of Duchenne where boys walk until they're eight or nine, then it falls off a cliff and then they die. These things are so unbelievably painful. But they help you to build up a resilience and a strength that enables you to look people in the eye and talk with authority about your experience and what needs to change and what needs to happen. So I wouldn't want to go back to those early years, all the money in the world. They were so desperately painful. And I remember the first moment that I just broke down. Eli was at sports day, he was four years old, and they did this running race, and he just stopped halfway through and broke into tears. And those moments are just sort of etched into my brain like horrific battle scars. You know, so I don't want to sugarcoat it. Those early years were horrendous beyond all description. What got me through it was therapy, antidepressants, and meeting Alex really, and having a shared warrior in this battle. We thought the same way, we had the same reactions to things, you know, we were so committed to finding treatments, to saving our sons, and as it turns out, saving a generation and saving a population, because we're in this for every single family with Duchenne

Starting a rare patient advocacy group

Emily

now.

Caitlin

It's so difficult because obviously a terrible thing to have to experience with your child. But I guess what you've done is you've taken that emotion, passion, and turned it into fight. And I wonder how did you make the decision, I suppose, to initially set up a patient group. A lot of people wouldn't instinctively think that that was a next step to set up that community, but that's what you did. Then I wondered if you could talk about how that came about.

Emily

Well, yes, after Eli was diagnosed, I couldn't even bring myself to Google Duchenne because it was so bleak. And at the time I was working for CNN and I remember I was covering the royal wedding of Prince William and Catherine. Then I was standing outside Buckingham Palace all night reporting to all the US affiliate stations. And, you know, it was a great night of broadcasting. I had a great time. And then I just got home and I collapsed. I think I'd been in denial. I hadn't Googled anything, I just stayed focused on my job, try not to think about it, you know, use work as an escape. And I just I called my boss and I said, you know, I've got to tell you what's happened and I can't come into work. I need some time. And then I started gingerly researching and I got put in touch with a mum in America called Tracy Settler, who had set up a patient advocacy group called Charlie's Fund. And she said to me, Listen, if you've got the fight in you, we need you. We need articulate parents who can raise money and who can move the needle. And, you know, I realized in that moment that I did have a choice. You know, I had a choice to be defined by Duchenne, or I could fight. I could be defined by my response to fight. And that's what I did. That's what we did. So we were very fortunate. We've got an amazing group of friends, very generous, very kind with their time, with their money. One friend paid for me to get a website set up. So many people gave me advice about what to do, who to meet, who to get on my scientific advisory board. And so with that support, I found the strength to set up the Duchenne Children's Trust. And, you know, our opening fundraiser, we made nearly £200,000, which is unheard of for a rare disease. And I set myself a target. I said, you know what? I'm gonna do it. Let's raise a million in the first year. And a lot of people, I think they were worried about my mental health. And by the way, I was also pregnant with my third child at that point. And they were like, hold on, let's be careful about this. You've got to protect yourself and look after yourself. But I was like, no, what we need is a million pounds to move the needle. 10,000 pounds is not gonna move the needle. A million pounds enables us to invest in preclinical work or in IND enabling work or large animal TOT studies or a million is an important amount. That's what we're gonna aim for. I look back now and we've raised 34, nearly 35 million pounds.

Caitlin

Wow, incredible.

Emily

Which is insane. You know, and I never ever would have believed that that could have been possible. But you know, when when you start off with the right message and when you start off with a goal, which is to end duchen, and that is your North Star, that is your guiding light, and you can show results from what you've done. I think that's the key thing. You know, we have such an amazing track record of proving that we have impact in all areas of this paradigm. So that's the sort of how I got to translating that lived experience into real profound change.

Caitlin

Amazing. And it's so difficult to set up a charity full stop. But also, like you say, to get people to care about it, to get people involved from a rare disease perspective where there's so few people who are affected by it or who understand it, it's such a difficult thing to do, while also, of course, you know, being a caregiver at that time. But it always astounds me how often rare disease patient advocacy groups are just set up by a parent at their kitchen table and just the sort of passion and the drive that they have because of that. And it's incredible how much that can overcome all of the really heavy barriers that there are to setting up that kind of organization. And that actually brings me on a little bit to the next

Challenges in rare disease care

Caitlin

question. So for our Rare Disease Day episode, I wondered if you could talk about the specific challenges that people with rare diseases face, and also, of course, their caregivers and family members too. What's different or what's more difficult to those facing more common diseases?

Emily

It's a really good question, and I think a lot about this. I think people not knowing or understanding what your disease is is really tough. So if I'd said to my friends, Eli has cancer, they would know what I meant. They would be, that's devastating. Yeah. What can we do? You say to someone, Eli has Duchenne muscular dystrophy, and they look at you blankly. And we had a really stark example of this earlier in the summer. There was a treatment going through NICE, which is the National Institute of Clinical Excellence in the UK that runs health technology assessment for new drugs. And the opening slide described Duchenne as a disease that causes muscle weakness in children. You know, Alex was the patient expert on that call and she challenged the chair. And so we had a call with NICE, and at the second appraisal meeting for that drug, there were seven slides describing what Duchenne is, which is a severely disabling, life-limiting, catastrophic disease. And when I say catastrophic, I mean it's like a cluster bomb going off in the life of a family. As you were talking about earlier, Caitlin, it's not just the impact on the patient, but that grows and grows as the patient grows. It's the impact on the family, the parents, the siblings, the grandparents, the friends. And then when you have a progressive disease, it's seeing your son gain the ability to walk, to jump, to climb stairs, and then see him lose those abilities. And so with Duchenne, there's never any closure. I spoke to a father whose child was born with a severe disability. And he said to me, when my son was born, that was the reality. It wasn't going to change. And over time I made my peace with it. But with Duchenne, you can't do that because you've always got a new reality. You know, you're always celebrating a milestone and then living in terror of what the next milestone of loss is going to be. And I think that is really a brutal reality to live with. And I think that is particular to a lot of rare diseases. I also just wanted to reflect for a minute on in my space, a lot of rare diseases, what we're really talking about is pediatric onset diseases. We are talking about diseases in childhood. And I think that is something that is very misunderstood. And I think the challenges that we face in Duchenne in developing drugs is because they're rare, right? It's small patient groups, there's huge variability in phenotype. Patients are spread across the world where it's very difficult to get a cohesive patient group that you can test a treatment on. But it's not just because they're rare, it's also because they're in children. Yeah. You know, where the baseline is constantly changing, where the instruments that you have to measure effective drugs are often instruments designed for adult diseases. And the thinking that we have within some of the projects that we fund, including Project Hercules, is to think more about how can we have regulatory flexibilities for children.

Clarinda

That makes a lot of sense.

Role of advocacy in advancing rare disease care

Clarinda

And we have spoken about unique challenges with rare diseases. I mean, just the fact that research is scarce and why it's scarce. And obviously, some of the reasons are that the patients are all over the place and hard to find, hard to gather. It's a numbers game, right? You have the numbers, you can get a drug to market, you can show commercial viability. And then, yeah, you're right that pediatric trials are hard to run even with common diseases. So then just the complexity of that with rare diseases is exponential. How do you think that patient advocacy serves to overcome some of these challenges?

Emily

Well, I mean, I think patient advocacy is absolutely critical, but as my knowledge has increased over the years, I feel like the role of patient advocacy is not to try and make everyone feel better in a broken system. The role of patient advocacy is to see where the system is broken and not working and really, really be laser focused on fixing that, which is really, really hard. I'm not saying that's easy. But you know, we do have a really unique perspective. I feel like patient advocates are the only people in this ecosystem with no other agenda other than developing and getting access to safe and effective treatments that aren't gonna bankrupt public health systems. That is our only agenda. And, you know, when I came into this space, everyone talks about bad pharma. You know, yes, I know that. I know that narrative. Some of the most incredible people I've worked with have been in pharma. They have an agenda. Of course we do, we know their agenda, but other people in the ecosystem have agendas too. And it took me a long time to realize some of those agendas. And Now that I'm fully aware of them, it's changed the way I operate, it's changed the way I work. But what I'm trying to say is don't doubt yourself as a patient advocate because your motives are the most honorable motives. Yeah. And what we need is a regulatory system that will enable us to do that. So, Clarinda, when you talked about, you know, the challenges in rare disease and the small patient numbers, that is a challenge. But if the regulatory system were able to adapt, it would no longer be a challenge. You know, we wouldn't have to constantly explain why there's variability in these outcome measures, why there's limitations in this data, why we can't extrapolate from this 15 years into the future because we don't have the patient numbers to do that. Why, you know, a gene therapy trial only has 100 patients in Duchenne, because that is really who we can who we can recruit. So we need to stop saying, yeah, it's such a challenge. Let's work together to make the regulatory system flex and adapt to those challenges.

Caitlin

Yeah, yeah. I really love that, Emily, because you know, we've had quite a few conversations, I think, on the podcast. A lot of the times we've been talking about how patients can get involved in all these different processes, whether it be with industry or research or regulatory approval, HTA, etc. And you know, Clarindra and I did the U-Party training, which helped train us up for that in a way. And a lot of the time it's to get in the room and to be taken seriously. Sometimes you have to change your narrative or the way that you're saying something, as well as saying, you know, your motive in terms of getting patients access to the best care. It's also altering that in a way that it meets their values. So again, whether it's making something cost efficient or whether it's ensuring that the sample size that powers so you can get a statistically significant endpoint out of your trial, we talk about patients maybe learning that language a bit so they can speak in those rooms and be taken seriously, and that the other stakeholders can see the value. And actually, I still think that's true. And I don't think this is bad advice, but maybe as you say, especially in rare disease, it's about speaking to them to explain why actually the system won't work in this situation. How can we actually change it? So I really love what you said there. And I wonder if you could talk to us a little bit about how you navigate, therefore, collaborating with these different stakeholders and how you get them to kind of change what feels like quite a rigid, difficult to change system.

Clarinda

And I have something on the back of that as well, which is how do you even get into this space where you feel like an expert in a room in a field that was never your own? You're talking science, you're talking medicine, you're talking drug development without necessarily having been trained in those terms. How did you get into that skin where you feel comfortable enough to talk to these experts? And then what are the different hats that you wear when you're navigating, collaborating with these different stakeholder groups?

Emily

I mean, it's a great question. And I never feel like I know what I'm talking about. I mean, you know, I studied history at university, which arguably hasn't been at all helpful in stepping up an Asian advocacy group. So I'm never going to be an expert, but I think one of the reasons we've been so successful is because we collaborate with experts. And I remember in the early days, well, I knew nothing. I knew absolutely nothing about medical research, about Duchenne, about how the NHS works. And when we realized that our sons weren't able to get on clinical trials and we wanted to set up a network of clinical trial sites, it seemed very obvious to us, but we were so ignorant. But actually, I think that ignorance is profoundly powerful because we didn't know what the barriers were, Alex and I. And so we just plowed on. And I remember there was another patient group there, and they said, Oh no, we we can't possibly fund posts within the NHS. That's not what charities do. And we were like, Well, that seems to us to be the problem, so why don't we be the solution and fund them? And we did it, and now look where we are today. So I think not being fully cognizant of all the challenges can be very empowering. And, you know, in terms of this idea of talking to various stakeholders, when you get a diagnosis of Duchenne muscle dystrophy, you're full of grief and you're full of rage because you come up against barriers that you feel are just ridiculous and can't be justified. But I have found that taking anger into a room with me when I meet people is not helpful and is extremely counterproductive. So I have to keep my anger at home, bring intelligence and bring solution-driven answers to meetings. So we were talking about, you know, running rare disease trials and the outcome measures can be very challenging. So we realized quite early on that this was a challenge in Duchenne. So we invested some money with a group who were developing a digital wearable device, and now that's used in almost every Duchenne trial. So seeing what the challenges are, finding the solutions and acting on it, which is what we've done at every step of the journey, I think is now really beginning to reap rewards and bear fruit in drug development in Duchenne.

Caitlin

I love that almost it's not necessarily an attitude, but it's kind of coming into a system. And if something's broken, not just accepting it because that's the way it is, but sort of saying, Well, why not? Why can't we do that? And that's how change is made. And I think that's really cool and hopefully gives people a bit of a perspective in terms of, you know, when someone says you can't do something, how can you get the right people in the room to change that and make that happen?

Getting into the right rooms (and feeling welcome there)

Caitlin

And on that note, Emily, I wanted to know, how did you find these people? It sounds like you have this really amazing network where you manage to speak to device companies, researchers. I know that you've also been in the room with policy makers, and you've said that you and Alex are in the room with nice steering committees. How did you get into those rooms, especially to start with, when you didn't really have as much of a platform or network as you did now?

Emily

It's a good question because when we started, we really were the new kids on the block. And to be honest, people looked at Alex and I as two mothers. I think there was definitely an element of sexism in the way we were treated early on. And we had to really, really fight to be taken seriously. That was tough. And you know, we got criticism from all areas. But we just were relentless. I mean, we just went out and met everyone we could. Alex and I travelled the world, we went to conferences, we met pharma companies. Whenever anyone asked us for a meeting, we'd go. I mean, poor Alex, she was up and down to London from Manchester twice a week, three times a week, and eventually, you know, was hospitalized because she was so exhausted. We did not say no to anybody, and you know, I think we also were extremely intelligent from the beginning, being able to grasp the challenges and see what needed to happen and what needed to change. And I think our reputation sort of grew without us even really making that a priority. That wasn't really a priority for us becoming thought leaders for its own sake. Our only motivation was to find a way to get treatments for Duchenne as quickly as possible. And if the science isn't there, we can accept that. But if the treatments aren't there because of human-made barriers, yeah, then that is not acceptable. And that is what we have to do. And we were extremely naive in the beginning, right? We thought if we just fund the treatments, the drugs will get approved and they'll get reimbursed because our sons are dying of Duchenne. Who wouldn't reimburse a drug for that? Uh, we don't have to do any policy or advocacy work. We will just do the do, fund the treatments, fund the clinical trial infrastructure. And of course, how naive were we?

Clarinda

Yeah.

Emily

Because treatments for Duchenne were not getting approved. I mean, there were very few back then, there are a few now. And here we find ourselves 13 years later, you know, last year we were meeting with the Secretary of State for Health in the UK about policy campaign we were doing. So we really have come a hugely long way. I think it's just an organic process and realizing where our limitations of knowledge were and bringing people in who knew those areas and could deliver on our behalf, that's also been critical.

Clarinda

I think you've captured really well your own sentiments and your own attitude in this whole process. I think that there is a doggedness that goes along with really successful patient advocacy. I think that relentlessness that makes you say, nothing can stop me. I'm gonna be in those rooms, why should I not be in those rooms? All of those things. I really

Redefining standards of care

Clarinda

want to know if you look back now from the other stakeholders' perspectives, how you feel their attitude to you as patients have changed over the years, maybe where, for example, you started out challenging some things that were the norm because you might not have known enough. And I can imagine scientists or HDA experts saying, Oh, what do they know, versus now the people you're meeting with, really influential people, giving you that space at the table.

Emily

That's a really good question, Clarinda. And I think it is because of our track record of delivering. And we are quite unique in the way that we have transformed the landscape of Duchenne muscular dystrophy in the UK on many levels. So I've talked about the Duchenne Hub. That's now being talked about in many areas. I'm now on an expert advisory group with another charity who are replicating our model. So we can speak with authority about how we made that happen and advise people. We also have another project called Duchenne Care UK, which has now been replicated by SMA, Spinal Muscular Atrophy UK. And that is an incredible project where we realized that patients in the UK were not getting access to standards of care. So an article was published in the Lancet and it was translated into a patient-ready document by our colleagues in the US, but it was written for US audience. So one of the things they recommended was your child needs to have a cardiac MRI. Now, in the UK, under the NHS, you'll be very lucky to get cardiac MRI. You won't get it. And so Alex and I would have parents calling us up in panic, about to go into their cardiology appointment, not knowing what to ask for, thinking that there are medicines but they don't know how to access them. And there have been a few scientific papers published on, for instance, the use of ACE inhibitors, prendapril, as a prophylactic treatment for cardiac care in Duchenne. And patients in the UK weren't getting it. Alex and I fought for it, and we had the scientific publications to argue the case. So Alex, and this is really Alex's baby, Duchenne Care UK, she came up with a brilliant idea of bringing key opinion leaders together in all of the disciplines to agree upon standards of care in Duchenne. And the cardiac example is really critical because boys were dying of heart failure with Duchenne, age 15, 16, 17, and they didn't need to die because they could have been on these prophylactic treatments to protect their heart. So the first guidelines we published were endorsed by the British Cardiology Society, and they are a list of medications that your son should be given when and what to look out for in cardiomyopathy and DMD. And we've now got 10, I think it is, leaflets, which are endorsed by each society. So we've got one in adrenal, in physiotherapy, we've got guidance coming out on psychosocial. So these are really empowering for patients because they tell them what they need to know. And after five years of lobbying, last year we got those guidelines endorsed by NICE. So patients are now empowered to go to their clinicians and say, This is what my son needs to be given now. And these are the reasons why you should give him. So we've empowered patients to advocate for their sons. You know, this is a really powerful model that, as I said, is being rolled out. And I think it's these sorts of achievements that regulators, pharmaceutical companies, they want to hear about them because they are advancing care in the UK, advancing our understanding of the disease. And that's why, you know, I look back and, you know, I've given speeches at the NICE conference. I gave a keynote at the MHRA annual conference. Alex has spoken privately in MHRA meetings because not only do we have the lived experience of being patient experts, but we have the lived experience and the advocacy experience of identifying problems, coming up with solutions and changing paradigm.

Caitlin

Amazing. And a couple of OBEs can't hurt either.

Emily

You know, the Queen is our Royal President and she's been an incredible support for the charities almost since we started. So

Caitlin

amazing.

Emily

I'm very grateful.

Caitlin

Yeah, I think that's incredible. And I guess what I was hearing as well a little bit is like you said earlier, getting any meeting you could, meeting the right amount of people over time, that means that sort of anyone in the Duchenne community almost knows your face and you kind of automatically become a top expert by just having that lived experience. But then also being in all of these different rooms, talking to all these different people and having these initiatives, it pushes you up that ladder really quite quickly in a rare disease space. Even though, you know, in sort of the wider healthcare community, Duchenne feels like a small chunk of that. But because you've done such amazing things in Duchenne, and because there are, I can't I can't remember what the latest statistic is, but 6,000 other rare diseases that could replicate what you've done in Duchenne and help other people as well in completely different disease areas. But because it's overcoming those barriers that generally rare diseases face, it's becoming extremely impactful on the wider community as well, which I think is amazing.

Emily

Thank you for saying that.

Overcoming reimbursement challenges (Project Hercules)

Caitlin

On that note as well, you've spoken about some incredible initiatives already to us today. But I wondered if you could share, and I know that you've mentioned Hercules a couple of times, and this is something that I've been following for a few years, and I think is really exciting. So I was wondering if you could share a little bit more about that, what the objective was, who was involved, what the steps were, and sort of what the outcome is at the moment and ongoing into the future.

Emily

I'd be more than happy to talk about Hercules. I could talk about that forever. I mean, and Clarinda, to your question earlier about not being the expert in the room, I think Hercules is a really amazing example of how I was not the expert, still am not the expert. And if it hadn't been for two incredible women, Hercules would not have come about. And actually, it wasn't our idea. It was the idea of a very passionate and dear friend of mine called Fleur Chandler, who was uniquely placed, actually, I think, to come up with Hercules because the way she described it is that she has the heart of a Duchenne mum, because her son Dom has Duchenne, but she has the brain and the head of a health economist. Because at the time she came up with Hercules, she was working in health value outcomes for respiratory disease at GSK. And we had a drug going through NICE, and it had been given conditional marketing authorization by the EMA, and it took two and a half years to get approval through NICE. And the problem with that was that the label on the drug said you could take it from the age of six until you stopped walking. So we had parents in the UK celebrating when the EMA gave it approval, only to see their son stop walking in the time it took for NICE to make a decision. And that door of hope was slammed shut in their face. And I realized, even though this drug wasn't relevant for Eli, I realized in that moment that there is something worse than having no treatment for your disease. What is worse is knowing that there is a treatment out there, but you cannot access it for your son because no one has worked out how to pay for it. And that to me was a light bulb moment. Now, as it turns out, the EMA has subsequently withdrawn the license for that product because the company was not able to provide the evidence to keep the approval. So with hindsight, I can see why this was such a struggle for NICE. The evidence was very challenging. But what it did do was plant the seeds for Hercules. Fleur had realized that a lot of these companies, and this is true of all rare disease, they're very small and they don't have big departments looking at health economics, and they don't plan their clinical trials to look at what evidence they will need for reimbursement decisions. So the way I describe it to people is in order to get a drug approved, you need to climb two mountains. The first one is to prove that your drug is safe and effective. And for that, you need to be approved by the MHRA in the UK or FDA in the US, different bodies around the world. But then in the UK and in many other countries around the world, you have to climb a second mountain, which is the reimbursement mountain, which is where you have to prove that your drug has value and that the health systems will pay for it. And this is arguably an equally challenging mountain to climb. And it needs a different set of equipment. It needs a different set of evidence. And what Fleur and I's discussions led to was a realization that we needed disease-specific evidence that companies should develop together to enable them to climb this second mountain. And the first genius thing that we did was to employ another fantastic woman called Josie Godfrey, who used to be an associate director at Nice. And she actually devised the rare disease pathway at NICE, the highly specialized technologies appraisals pathway. So she was so perfectly placed to lean into Hercules. So together we created a pathway that had not been built. I mean, this was the first time this had ever been done in the whole world to get competing pharmaceutical companies to come around the table together and work together to create that evidence base. So, what does that mean in real terms? Well, we took a big, long, hard look at the natural history of Duchenne and we involved patients in describing that natural history, not just relying on clinician perspective, but asking patients what actually happens when your son has Duchenne? How does that disease progress? Redefined the natural history. We came up with a new stage in the disease, which is called the transfer stage, which is when patients can weight-bear, but they can't walk. Right? Why is that important? Because it means that they can still be independent. If you can weight-bear, you can transfer from the lavatory to your seat, from your seat to your bed, you can get yourself dressed. It's a really important stage. And no one was capturing it because it only lasts for six to 18 months. And by the time you've been from one clinic appointment to another, there's no way of articulating it. So we redefined the natural history model and we have now published that, which is available for anyone to access. We also did something really profound, which is we looked at some of these outcome measures to assess the impact of a treatment on patients, and we realized that they weren't fit for purpose. And this goes back to my earlier point about trying to fit childhood diseases through a system that's built for adult diseases. So, what do we use to measure quality of life? We measure the EQ5D, which is designed for adults and common diseases. It doesn't work at Duchenne. And so we did a whole piece of work publishing why we don't think it works in Duchenne. Not only that, we developed our own metric of 14 questions. It's called the DMD qual. It's been translated into over 30 languages and is now being used in clinical trials across the world. And we did it. It took three and a half years, hundreds of thousands of pounds, spoke to over 300 patients in developing it, had the input of all of our incredible pharmaceutical partners. It's a really robust piece of work. And no one person could have done that. No one charity, no one company could have achieved that. It's a really incredible advert for the power of collaboration. And it's now something that's being used in drug development. And I couldn't be prouder of it because it's really got to grips with one of the most challenging areas of health technology assessment and come up with a solution. Now, the challenge is that we're nowhere near there because even now, companies using the outputs of Hercules are having a tough time. Because, as I said, the system isn't set up to fairly appraise treatments for rare disease and pediatric diseases, more importantly. So we still have a huge, huge, huge long way to go. And so Hercules is now moving into phase two, where we're looking at a lot of different areas. We're looking at the impact of loss of function on your upper body, which is profound. I would say losing the use of your arms is even more devastating than losing the ability to walk. Because when you lose the ability to walk, you have a wheelchair. But when you lose the use of your arms, there is nothing there. Again, another area we are looking at, and we are hoping to launch a technical device next year that will address that. Currently filing for patents, so I can't really talk about it. But for patients, losing the use of your upper body is devastating. Yet in HTA minds and in regulatory mines, the major milestone is loss of ambulation. Yeah, yeah. Now, would I like my son to walk three years longer to stop him getting scoliosis so that he can preserve heart pulmonary function? Of course, I would fight tooth and nail for a drug that would enable him to walk four or five years longer. But what we need is a system that acknowledges that's not the only milestone and that there are others. So for Hercules, we're looking at that. And the other piece that we're looking at, which is hugely underlooked at, is the burden on caregivers. And going back to where we started, Caitlin, we cannot underestimate that. And we had a situation last summer with NICE where they asked for an extra call for evidence. They gave us six weeks to provide further evidence in a rare disease, which is incredibly difficult to generate evidence in any way. But we did that and we commissioned a piece of work with the University of Sheffield to look at patient caregiver burden. And it was devastating to listen to. And we submitted all the evidence to NICE, and we're now thinking about how we can disseminate that to a wider audience because. It needs to be front and center of any regulatory decision.

Clarinda

Thank you for sharing, Emily. I think that's all so inspiring, and it's this monumental work. And I can just imagine the number of lives impacted and the value that it brings. One thing that did occur to me when you were giving the example of Flo, and it brought me back to the question about how patient advocacy can help overcome challenges and just the value of patient advocates in general, which is that not only do we bring our lived experience and our passion, but we bring unique professional skills. You bring your communication skills as a journalist. So you're a rare disease mom who is a journalist, and I'm a science communication professional and a rare disease patient. And Flo is a health economist. And you know that intersection is something that you don't get in other spheres of professionalism, really. So it's really powerful, I think, what that can achieve, especially in an arena like rare diseases. The value of that intersection of skills and experience coming together is so critical.

Caitlin

Yeah, Emily, that sounds fantastic. And following my UParty training, I did actually get a little bit involved in a nice appraisal in the sense that they'd asked for patients to respond to a negative appraisal for a drug that I'd been on. And I felt that kind of anger that you you had, I think, when I read it, because they said, oh, this quality of life metric specifically created for Sia, but that's not the one we use here. So they just sort of ignored it. And I found that a lot of the reasoning that was used within that didn't consider the wider picture. You know, they said there was no long-term evidence, and it's like, well, how could there be long-term evidence when the drug's only been on the market for two years? It just hadn't captured any of those human elements. And the elements, as you mentioned, from a caregiver perspective, I mean, I hope you don't mind me, but you said that you've been on antidepressants that's needed therapy. Alex ended up in hospital because of exhaustion. That has an impact on the healthcare system because of someone else's illness. So if that isn't captured, then how can you possibly model the cost-effectiveness of something on a system if you're not considering how many sick days I would have taken off of work? Yeah. If you're not considering how many days that my dad had to take out of work to come take me to the hospital, there's so many elements that I felt were missing from that. And I think there was such a heavy response from the Cystic Fibrosis Trust mostly, but they also called for patients to write their own personal point on that. And I think while maybe the hard evidence wasn't there, the anecdotal and qualitative feedback that people gave, even from a rare disease perspective, unmasked shown how actually your models might never say what you want them to say, but your models aren't right for this disease. And I think that's similar to the fight that you had as well. It's like, okay, this is the perspective you don't have, so how can we generate that evidence in the way that works for our disease area?

Emily

I totally hear you. It's a sort of Kafkar-esque disconnect between your lived experience, you know what you're talking about, and these sort of artificial parameters that are put in place. And I just want to mention an incredible patient advocate in the UK. His name is John Hasty. He's living with Duchenne, and he was the patient expert at the most recent NICE appraisal. There was a bizarre interaction where one of the economists was talking about data from the US, which couldn't really be used here because it was US data, not UK data. And John said to him, Well, with all due respect, I think American patients who want to use non-invasive ventilation to breathe better want to do that because they have to share, not because they're American. I still want to breathe better. It's the same disease, whether you live in the US or with Live K. And to not accept that evidence just feels so I agree. And this is going back to my point. There are so many challenges, and the system needs to flex, not just say these are the challenges. Flex to make them not challenges.

Clarinda

Yeah, thanks for sharing that. I think it's different lenses because they're kind of trained to go through things in a checklist and follow a process. And as advocates, there's so much heart that we bring into our interactions. It's so personal. And I think that's just such an inherent tussle, and that there's somewhere that it has to meet in the middle that that would make it a lot more meaningful for both sides.

Emily

You know, Clarinda, it's just reminding me that I went to a meeting with the FDA. One of the committee members said to me, Don't bring me a room full of crying mothers.

Caitlin

Wow.

Emily

And I really was like, Wow, okay. So I got back to the UK and I said to Fleur, we can't bring a room full of crying mothers. She said, Well, we'll just convert those tears into evidence and bombard them with evidence so that they can better understand each other and make safe, right decisions.

Caitlin

But yeah, what a horrible patronizing thing to be said to you.

Emily

And also, what's wrong with being two mothers? Mothers praise the world, right? So what's wrong with being two mothers? And don't underestimate me because I'm a mother. In fact, you should be scared of me because I'm a mother.

Clarinda

Absolutely.

Caitlin

Totally agree, Emily.

Clarinda

So moving on, Emily, I think that this has been a really, really special conversation. It's been full of heart, and it's been an honor to have you here for Rare Disease Day and hear your story, and really inspiring to hear about all the work that you've been doing. So thank you for your time and for sharing all of that with us. We'll

Emily's long‑term dream for rare disease care

Clarinda

just wrap up with some quick fire questions. Maybe what would you say is your long-term dream for rare disease care?

Emily

My long-term dream is multi-layered, I think. On the first layer, when transformative treatments are approved as safe and effective, patients can get access straight away. And then we worry about how to pay for them. My second ambition is that in Duchenne, for instance, many treatments are off-label, they're off-patent, they're relatively inexpensive drugs. Let's roll them out to every patient living everywhere in the world. Let's make sure that every child diagnosed with a rare disease is given access as soon as possible to transformative treatments that will change their lives.

Caitlin

I think that's absolutely a dream that we can all get behind, Emily. So thank you for that. And

Advice to rare disease advocates and healthcare stakeholders

Caitlin

then the next question is for patient advocacy groups in the rare disease space, if you had one piece of advice for them, what would that be?

Emily

You know, I'm I'm feeling quite emotional as we record this. Rare disease day is a powerful way of bringing community together. And there are thousands of parents out there fighting for their children. And I know how hard it is and how lonely it is, and how much resilience you need to get out of bed each day and fight the good fight. And I'm always reminded of this poem by the American poet Mary Oliver. And the last two lines are Tell me what is it you plan to do with your one wild and precious life? And I suppose in your darkest moments, you know, just remember that we all only have one wild and precious life, and what do we do with it? We want to leave this world in a slightly better place than where we found it. And if all of us do our part, we will make a difference. And no matter how hard and difficult the journey is, it matters and it counts. And we are one incredible community fighting and get it sealed to try and make a difference. So my advice would be take one day at a time, you don't have to solve everything all at once, and surround yourself with resilient people. Find the people who are climbing the mountains and climb together. I love it.

Clarinda

Thank you. Thank you. What advice would you have for other stakeholders looking to engage with rare disease -focused patient advocacy groups?

Emily

My one piece of advice would be, or my one plea actually, would be to stop calling it the patient perspective, right? Because we're the only ones who have that preface, a patient perspective. But if you give us the perspective, it implies that everyone else is speaking the one truth. Everything is a perspective in drug development. You know, if you look at what we did with Hercules in redefining the natural history model, we redefined that model because we listen to patients. So there's a clinical perspective, which is really valid and important. There's the patient perspective, there's no one big truth. So either call me patient perspective and call everyone else clinician perspective, pharma perspective, regulatory perspective, or don't call me patient perspective. I'm an expert. I will talk about Duchenne. I'm an expert in many areas of drug development, not so much in others. But treat us with the respect that you treat everyone else. And I promise you, you will get better treatments, you will get better outcomes, you will get better run clinical trials, you will be able to recruit more quickly for those trials. It will benefit everybody.

Caitlin

I think that's fantastic, and it actually ties in really nicely with the theme that we've been hearing coming up to 2026, is just being collaboration and making sure that the patient is a stakeholder in the room of equal weight to every other stakeholder. And it's not that the patient is the most important, but in that room of trying to develop medicines or evolve care, everyone should have relevance and importance, and that includes the patient as well. And that collaboration is something that's really important and needs to happen a lot more.

Clarinda

Yeah, exactly. Thank you once again, Emily. And it's been more than a pleasure having you here.

Emily

Well, it was a real honor to chat to you both and hear both of your incredible stories. And it's a real testament to you that you're turning your experiences into, you know, a podcast that can help influence people and help them to change the world. So thank you so much for having me.

Reflections with Caitlin and Clarinda

Caitlin

So, Clarinda, we've just had a really inspiring and heartwarming talk from Emily there for our Rare Disease Day episode. And I wondered if you could share with me some of your key takeaways.

Clarinda

Yeah, it was really a great conversation. And one of the things that we keep coming back to when we talk about rare diseases is the devastating impact that they have on the lives of the patients and their families. And both you and I are living witnesses of that fact. The implications of living with a rare disease are huge. And that has so much power though, if it can be harnessed and brought into conversations in healthcare because it is a truly unique experience. You know, usually there are comorbidities, there's so much complexity to the rare disease life that those stories are really important for anyone in healthcare to hear. And the value that that can bring into shaping healthcare narratives is huge.

Caitlin

Yeah, absolutely. And I think some of the key things we discussed with Emily today was how really the healthcare systems aren't particularly set up to help people with rare diseases. There are obviously some initiatives and grants in place now to ensure that people with rare diseases are able to get that access to care and that there is innovation in that space. But actually, there are so many barriers in terms of just the knowledge of the area and how much data is able to be collected because it is a smaller population. There's barriers in terms of whether it's a priority for that healthcare system to be tackling those rare diseases and providing that care. There's the fact that there aren't experts, either healthcare professionals or in any other stakeholder groups necessarily. They're sort of few and far between professionals in that space. And yeah, the system isn't really set up to measure the value of certain therapies and innovations for these rare diseases because not much is well known. So, in terms of what Emily was talking about, she was saying that actually a really powerful thing that she's worked through is finding what those barriers are and saying, well, actually, the barrier is that the system at the moment cannot possibly measure the true impact of disease. So let's, for example, come up with a measurement that we can use, or see if we can adjust the data that we have in a way that matches the current criteria, but would never be able to reach because we don't have enough data. So it's actually saying, well, there's got to be a different way to measure this and finding new ways to overcome those barriers.

Clarinda

Yeah, I agree. And it's I think that it gives feel to a lot of rare disease advocates like they're shouting themselves hoarse. But if you just look at what Emily has achieved, Emily and her partner at Duchenne UK, it's monumental work, right? And the truth is that advocacy has so much power in rare disease. I've seen it in my own disease area when I was diagnosed 15 years ago, there was no treatment. There was no community. There was hardly any research. And now I can say that NMO is one of the better-known rare diseases. There are FDA-approved treatments, there is a community. I support a community in India as well. And the power of advocacy is just immense. And like she said towards the end, it's just about waking up every day and trying and continuing to make those efforts because it takes time for those efforts to bear fruit, but they do bear fruit, and then the value is immense.

Caitlin

Yeah, agree. And I guess the last thing to say is just that a lot of people, when either a family member or a loved one or themselves are diagnosed with a rare disease, that can be something that's really overwhelming to just manage anyway. Never mind trying to kind of fix a whole healthcare system and community. Of course. And especially if you don't already work in healthcare and you're not really aware of how the process works, it's really difficult. And actually, what we heard from Emily is she wasn't that kind of expert in health at all. You know, she was a journalist. What she had was passion, drive, her own expertise as someone who was caring for someone living with that disease. And then she just put herself in all of the right rooms and brought the experts along to collaborate and set up some fantastic projects, including HTA projects, setting up measurement for clinical trials, funding research, all things that she doesn't have expertise in, but she just had the drive and the vision and got the right people in the room to say, how can we achieve this and can you help me achieve it? Yeah. And I think that's incredible and such good advice.

Clarinda

Yeah. Nothing can stop us. Exactly.

Caitlin

Thanks so much for tuning in to our special Rare Disease Day episode of Not Just Patients with our guest, Emily Reuben OBE, and your hosts, Caitlin Rich and Clarinda Cerejo.

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Caitlin Rich

Co-host
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Clarinda Cerejo

Co-host