Mobile Menu

Patient Perspectives: David Edward Rose – Ultra-Rare Disease Patient Speaker

David Edward Rose works for a rare disease magazine called Rare Revolution Magazine. He is also an ultra-rare disease patient speaker after being diagnosed with a rare connective disorder known as Occipital Horn Syndrome. Rose is one of very few people living with this condition. Due to its rarity, there is a lack of research and treatment options in this area. Despite this, Rose actively partakes in speaker engagements, aiming to raise awareness of the condition and support the rare disease community as a whole. Rose is also passionate about the importance of mental health and raising awareness about invisible illnesses. 

Please note the transcript has been edited for brevity and clarity.

FLG: Hello, everyone, and hello, David, thank you so much for joining me today for the latest Patient Perspectives as we take a look at the impact that genomics is having within patient lives. Today, we’re joined by David Rose, a rare disease patient. So, David, if you could just introduce yourself and tell us a little bit about what you do as well.

David: Thank you very much, Shannon, delighted to be here today. So, my name is David Rose and I have an ultra-rare disease called Occipital Horn Syndrome. It is similar to something called Ehlers-Danlos Syndrome, which you may have heard of. In my day job, I’m working for a rare disease magazine called Rare Revolution Magazine. It’s been a really great opportunity for me. I’ve been working here for just over three years now. Alongside the magazine, I’m a trustee for a small bladder charity in the UK. And I also volunteer for Great Ormond Street Hospital, and obviously quite often do speaking engagements (similar to this), conferences and working with a couple of pharmaceutical companies. So, it’s been a really interesting change of direction to work in rare disease. It’s not my background at all; I studied economics at university. So, it’s funny how life takes you, but yeah, really relishing the opportunity!

FLG: For those who don’t know, would you be able to go over what Occipital Horn Syndrome is, and also how it links to Ehlers-Danlos Syndrome as well?

David: Occipital Horn Syndrome, the definition of it is it’s a milder version of something called Menkes Disease, which is something else you might have heard of (it is still another rare disease but obviously slightly more well-known than Occipital Horn). The link to Ehlers-Danlos Syndrome is because Occipital Horn Syndrome is partly a copper deficiency; that’s where the main part of it comes from. But it’s also a connective tissue disorder, which is exactly what Ehlers-Danlos Syndrome is, or EDS, and it’s the collagen in your skin underneath it. So, it’s not just the musculoskeletal side, which is obviously what I think a lot of people think of when they think of hypermobility syndromes and things like that. And obviously, EDS is the same as mine. It’s not just the joints and the muscles, there’s also the internal problems. So, your bladder, your kidney, heart, bowel, everything. Pretty much every organ has something slightly wrong with it. I’ve obviously had it since I was born. It’s a genetic condition, but I didn’t find out until a bit later. But yeah, there is a very strong link to EDS, and it used to be considered one of the mega-rare subtypes until the classifications of EDS changed. I think that there may have been maybe 10 or 12 different types, and I think there might only be about five now. I think mine was one of the conditions that kind of became its own thing, but there’s definitely a strong link to Ehlers-Danlos Syndrome.

FLG: Would you be able to describe your path to get that diagnosis, and the twists and turns in that process as well?

David: When I was younger, just to give the context – I can go into more detail – but obviously, I was in and out of hospital settings pretty much from birth. So, I was at Great Ormond Street Hospital from when I was about, maybe, 18 months, and then Addenbrooke’s Hospital in Cambridge, kind of alongside that and before that as well. So, I had a few different health problems that nobody really thought too much of. Initially, I didn’t really hit the key milestones. I didn’t walk until I had just gone 2 and I didn’t crawl, I didn’t cruise, didn’t do any of that. So that was something that people thought was a bit unusual, but I was certainly not the only baby in the world that didn’t walk for a long time. That’s relatively common, I suppose. And so, they never thought too much of that. I had a couple of hernia operations very early on, again, unusual but not that unusual. And when I was young, I think I was about 3 maybe, at Great Ormond Street Hospital, they were saying, ‘We don’t really know exactly what this is’, but they were the ones that said it could be Ehlers-Danlos Syndrome, so they were pretty much on the right track, although it wasn’t 100% the correct diagnosis. Back then, it wasn’t too far away. And also, for context, I am 32 now, so that was 29 years ago. The medical pathways and diagnostics have gotten so much better now with EDS, and you know, back then it was pretty much unheard of. Now, I’ve met quite a lot of people that have Ehlers- Danlos. It’s interesting to see how it’s changed.

But as I grew older, I didn’t really fit the criteria for conventional EDS diagnosis (obviously there are different types). I think they thought I had the classical type because I’ve always been hypermobile. But through people that I’ve met at work in voluntary capacities, I’m very flexible, but I’m nothing compared to some people. And so, people may or may not know. With EDS, quite often you’re measured on something called the Beighton score, which is like diagnostic criteria for some of the hypermobility parts of EDS. I think I scored nearly four on that, but I didn’t think I was actually that flexible compared to some people. But some of the tests that I had done, I still fitted the EDS criteria and had all the obvious tick boxes – lots of bladder and heart problems, lots of recurring hernias. I have dislocated a few things, but nothing like daily, like some people seem to with EDS. So, as I got older, I didn’t really fit the criteria anymore. And so, when I was 23 or 24, after a few different operations then as well, they were looking into seeing if it was something a bit different. And that’s when the genetic testing started.

That was a few years ago now, and it took about four years to come up with the diagnosis and to find the right gene that was affected. And it’s a definitive gene to find. It is called the ATP7A gene and that is what Occipital Horn Syndrome is. It is an X-linked recessive condition, so my mum passed that to me. We had all of our family tested, and extended family, like maternal cousins and aunties and uncles, that kind of thing, nieces and nephew. It was just interesting to see how that came about. But thankfully, it’s just me that has it; nobody else in my family has been affected. It’s nice to have a name for something, but it doesn’t really solve anything because there’s no treatment. There’s no research or anything. So, although I’ve got the name for it, which is a holy grail for some people trying to find the name of what they’ve got. It doesn’t always mean it’s a huge life changing thing, because my life doesn’t necessarily improve just because I know the name of it. That’s really the kind of reality of it, I guess!

FLG: What was it like having to go to your extended family and say you might want to get tested?

David: For me, I’m quite unemotional about things, so I don’t think it really impacted me as much. But I know my mum is more of an emotional person, aside from health, than I am. She would never have known that she was carrying the condition; you wouldn’t be tested for that. But obviously my mum feels a lot of guilt personally to me, and I think that probably carried through with having to get my maternal side checked. Thankfully, everyone else is okay; it’s just me. But I think my mum found it quite emotional because although it’s definitely not her fault, she sometimes feels like it is her fault. And I think that’s probably quite a common theme in the carrier side of rare diseases. Everyone often thinks about the patient, but actually that’s only a small part of actually what happens; it’s a broader topic. I don’t have any kids, but if my partner and I have kids, then it has more of an impact. Because at the time when I was told what I had, I was single, I was a lot younger. It didn’t have as much impact, whereas now, I am in my early 30s. It would be very feasible to have kids now and I’d have to consider the different options. I think the time you get diagnosed makes a difference to how much of an impact it has in your life. Because obviously, when you’re a lot younger, you’re probably not thinking about having kids too much. Not everybody, but as a general thing, it’s not as much of a thing at that age. Whereas now, lots of my friends already have got kids, if not one or two already. So yeah, it maybe has more of an impact now. It is definitely something to think about. I think the knock-on effects of having a genetic condition are more obvious in your childbearing years.

FLG: What was known about the condition at the time and how did you try to understand your diagnosis yourself?

David: Yeah, it’s a good question. So, there isn’t really much literature out there. Like, obviously, this is going back about six years now. I Googled it because, obviously, when I spoke to the geneticist, he said, ‘I’ve never seen anyone with it before, and anything that you find will be a result. You’re not really going to find tonnes of research or tonnes of people with this condition’. That’s the whole point of having an ultra-rare condition. So, he suggested trying a few different sites for rare diseases, like OMIM and Oprhanet, and things like that. So, I found some of the science behind it, but there isn’t really a patient population with the condition. And now, I Google it from time to time. And you know, I was involved in a couple of papers – it wasn’t research as such, it was more just a paper about the condition – so I offered to take part in that at my hospital and different things. So now, if you Google it, quite a few of the articles and journals are about me anyway. So, it’s not really research about anything different, like I’m the case study or I’m one of the case studies. So, it doesn’t really help a lot. But, you know, I’m happy to help anywhere I can. But there isn’t an awful lot of research. And although it’s frustrating sometimes, there’s actually a benefit as well. Because I think sometimes you can Google and go too deep into something and worry yourself way too much. So, I think a bit of naivety might be a good thing. I think if you start going down that rabbit hole of looking at absolutely everything, you could do that for anything.

Like if you think about a really common thing, like asthma or high blood pressure, there’s risks and everything, but there’s a big patient population for those conditions and you can see averages of things a bit easier. Whereas if you’ve got something ultra-rare, there’s no point looking at statistics or anything because there’s not enough people to be a good sample. So, I think it’s actually quite nice to not have to look at it every day. Sometimes I think it would be nice if I had a relatively common rare disease, and I might be able to find more information and different things with it. But actually, I think sometimes not having the information is also good in a different way. I think everybody’s different. I think it’s because I don’t like to think about it too much. You know, I’m happy to do my talks and other engagements, but I don’t really like looking at my health too much. I think the reason I’ve coped with it over the years is by not thinking about it or not making it a bigger thing. I have to live with it, and I can’t hide away from it, but I think if I was sitting there every day until 4am researching and different things, it would drive me mad. So, yeah, a little a bit of naivety might be good!

FLG: You’re the only known person in the UK with this condition. What has that been like? Have you tried to reach out to others across the world?

David: Yeah. So, there’s a guy fairly recently that was from Ireland. We don’t really have much contact in general. There is a guy in Germany, two guys in Sweden who I’ve met, all fairly similar ages, sort of between late 20s and early 40s. We’re all within about 10 years of each other. We’ve talked a little bit, but it’s not an active patient community or anything. Some of the more common things like haemophilia or cystic fibrosis, things that people have heard of outside of the rare disease community, they’ve got dozens of patient groups, especially in bigger countries like America and Canada, they’ve got dozens of chapters within their own country. Whereas there isn’t a single group for my condition globally, as far as I know. And I think there were different Facebook groups where people thought they had it, but I don’t think any of them actually did. But I don’t know, I dipped out of it because I didn’t really find a benefit. Going back to the research and the literature out there, I think not permanently talking about it. It would be nice to maybe find some more people if they do exist and they’re out there. But actually, I think a little bit of separation from it is good because I already work in rare disease. I volunteer for a rare disease hospital, I am a trustee for an unusual form of catheter. Like without even trying, I am doing a lot of stuff in healthcare and rare disease. So, I need a bit of escapism as well. I think, actually, if I was a big, active member of that side of the community, it would probably be too much! Again, like I’m trying to see it from a positive way, maybe not being so social about it is a good thing. I think that’s just how I have dealt with it.

FLG: A lot of people find support within these patient organisations and charities. Where have you got that support from?

David: Yeah, so I guess outside, if you separate my own friends that I had before I had anything to do with rare disease. Obviously, I’ve made friends in the rare disease community all with different conditions. So, one of the big campaigns that I was a part of recently, with 16 other people. They were all a really nice bunch of people with different rare diseases all in the UK. They’ve been a good support group. It’s just been nice to deal with people that are also like me, trying to make a difference in some way and trying to tell their story. So, it’s been really, really nice to connect with them. Through work obviously, I’ve met lots of people and my colleagues are great. And I don’t know anyone, and I’ve never met anyone with my condition. But I’ve met a few people along the way, also on social media, and I found a few people with EDS, and have stayed in contact with them and I have met a few of them. So that was nice. And I guess through work, because I obviously work in rare disease and my volunteer stuff is all to do with rare disease as well, I’ve met a lot of people with different conditions from that. So, I still found a community.

There isn’t a social media community for my condition, but I’ve made friends with other people who have different rare diseases at conferences or online or however it has been. I think everyone is so open to friendship. I think as you get older, away from rare disease life, your friendship circle tends to get a bit small, everyone does different things and move away, have kids, get married, like life changes a little bit anyway. But I have noticed everyone that I’ve met in the rare disease space, all different ages – not everyone is my age – I’ve met people that are way older, people that are a bit younger. It’s nice to have quite a varied group of people, because in reality, I probably wouldn’t have met most of them if I didn’t have a rare disease. So, there are positives with having it is because you’ve met some really cool people that you wouldn’t have probably come into contact with before. So, there are definitely positives to it!

FLG: On a day-to-day basis, how does this condition affect how you live? And what challenges have you faced along the way?

David: Again, it is really similar to EDS. My health seems to go through stages. I’ve had lots and lots and lots of surgeries now and procedures over the years, way over 100. So, you can’t really tell when they’re coming. Sometimes you might have five years of feeling awful, and then a year of feeling great, and then 10 years ago of feeling awful, and 15 years feeling good. It just varies so much; there’s no real pattern to it. And obviously, that made school and work life quite difficult before, just because it is so unpredictable. I wouldn’t really say there is a day-to-day because there’s not really the same thing. Obviously, pain and fatigue are at the forefront of everything. And the pain, you could argue that you can take a lot of strong painkillers and you can combat some of the pain, but fatigue is probably more overwhelming than pain sometimes, because there’s nothing you can do for fatigue. Fatigue is obviously very different to being tired, like migraine and a headache or nausea and vomiting – they’re very different things. And fatigue is so different. It’s really overwhelming, because sometimes you can’t deal with the brain fog, I guess you’d want to call it, from taking so many cocktails of painkillers and all the things that you take for the bladder and your heart and everything else that you’re using. So, you know, daily it’s quite difficult because you have to find that sweet spot of managing to take enough pain relief and take enough medication that your body can function. But you have to be at the right point that your mind can function as well, because it’s all well and good taking this medication, but if you can’t function, you’re not really living. So, it’s a very difficult one to answer.

But I think fatigue is probably the biggest problem that I have daily because it’s something that you can’t escape. Obviously, I still have work life and I’ve got friendships and a relationship to maintain. I have still got things to do around the house. You can’t really escape it. We were talking before we came on about the heat and things, so I personally find the heat really good. I am generally better in summer than I am in winter, so there is a trend, I guess, to that. Certainly my joints feel a lot better, and my kidney feels better when it’s warmer, because you’re not stiffening up and tensing the whole time when it’s cold. And I think that’s the only way you can measure the difference, is summer to winter. And I definitely find the heat helps. But you know, quite often when you have a rare disease, you tend to have more than one thing. Ehlers-Danlos is exactly the same. A lot of people will have co-morbidities. So, I have something called POTS (postural orthostatic tachycardia syndrome), which is not rare, it’s just a common thing that people tend to have if you’ve got a connective tissue disorder. So, it’s the intolerance to standing and sitting to laying, and your blood pressure and your pulse races and drops really quickly. That gets a lot worse in the summer because it’s hotter anyway, and you feel a bit more lightheaded. So, there’s lots of different things going on. It’s really difficult to measure a daily life because there isn’t really one. You know, some days I’m having a good day and other days I can barely get out of bed. So, it’s really unpredictable and all the different things, like frequent urine infections and kidney infections and things like that, sometimes you can spot them coming. Other times you might feel really good and then literally 10 minutes later, you’re hunched over. I wish there was a way of being able to understand when things are going to get worse. But yeah, there isn’t really a way of tracking it, so you just have to assume every day is good, and then figure it out and come to that afterwards if you’re starting to struggle. There’s no way of really dealing with it.

You know, I’ve had it for 32 years, I’m managing it in my own way. I don’t know if it’s the right or wrong way to do it. And I think that’s the whole point, is that everybody, even if you have got the same condition, manages it their own way. There’s no right and wrong way of doing it. And I think a lot of people think that you have to work to have a purpose. A lot of things I’ve noticed (I’m slightly going off topic but I think it’s an interesting point) is that in daily life, a lot of the time people always centre it around work. And I’m lucky that I am working now. I haven’t always worked because I’ve struggled to find the right employer to understand rare disease life and how it changes. But I think work has been good for me because it’s helped to give me a routine. But I think a lot of people outside of rare disease put far too much emphasis on what someone does for work, and, obviously, lots of people in the rare disease space can’t work because their body limits them. And so, everybody’s routine and everybody’s way of dealing with something is purely up to them, and it’s a bit of trial and error. And I’m still learning, and I will be learning probably until the day I die, of how to manage it. So that’s what I try and do and just try and give it everything. And if it doesn’t work, I’ll figure it out next time!

FLG: A lot of the treatments you have been describing are based on your symptoms. For example, the surgeries and the painkillers. Are there any experimental therapies in the pipeline or is it completely empty?

David: Yeah, it’s pretty empty! As far as I know, I think there’s a gene therapy for Menkes disease; that’s the other thing that’s linked to my condition. And obviously, I’m way too old for that now. That’s aimed at babies. Not even really toddlers, I think it’s literally babies. And obviously, I’m past that stage. I don’t think that in my lifetime there will be anything. There might be something to help with certain aspects of my health, but there certainly won’t be anything for an all-over treatment. But I’ve accepted that. And I think that’s quite often the actual reality of having a rare or an ultra-rare disease. Just because you’ve got the name for it – it’s good to have a name for it for some reasons – but lots of people will have a name for a condition and then have absolutely nothing practical they can do. You can have physiotherapy and surgeries when things are needed and that kind of stuff, but aside from that, there isn’t anything. So, I just accepted that and that’s it, there’s nothing more you can do.

FLG:  Aside from your condition, you mentioned you work alongside Great Ormond Street a lot. What has this been like?

David: For context, I’ve been volunteering for Great Ormond Street for, I think, about eight years now. Obviously, a year and a half gap with COVID, nothing has happened in that time. But I started volunteering for them when I was a bit younger, and I was considered a young person at that time, which was nice; I’m too old for that now! But at the time I was helping with different discussions, and transition was always the biggest conversation, about our experiences with transition, but also just helping with our opinion as a young voice in the hospital. Everybody that was in the forum that I was in, they all were either current patients or ex-patients – that was a really great friendship group as well. So, I stopped doing that and I did a few different other panels in the hospital.

And then actually, that’s where the public speaking side started, at Great Ormond Street. So obviously, everyone knows about Great Ormond Street, I’m assuming, and it’s funded by the NHS. But the other part of the funding comes from the charity. So, all of the amazing rare disease work you see happening there and all the different amazing research, most of that is coming through the charity. So, the charity is a real big push to try and fundraise. And that’s why they’re very good at it. You see lots of adverts and you see them all over the place and it’s got a good profile, lots of celebrities and stuff will be there and do as much as they can. But that’s really where the public speaking started. So, I started doing a few after-dinner talks, where Great Ormond Street was the charity they were doing the event for. And half of it was to do with how the money was used from the fundraising. But the second part of it was dealing with my experiences being a patient there for many years growing up and using the different facilities. So, Great Ormond Street has got a private school in hospital, which is quite different. And I don’t know any other hospitals, if any, that do that. So that was quite unique! So yeah, talking about things like that and that’s where the speaking started. I did quite a few different speaking engagements at big banks and law firms and publishing companies over the last few years. Obviously really enjoyed it, and I started doing some in the rare disease space.

I used to live in Cambridge, which is the big rare disease hub outside of London and Oxford. So, there were always different events going on there. There’s a company called FindACure and Cambridge Rare Disease Network, which some of you may have heard of. I’ve been doing some talks at their events and then that led to doing the talks for work as well, and in a personal capacity. So, I have got them to thank for giving me that chance. The public speaking thing was a bit different; I didn’t think when I was at university that’s what I was going to be doing alongside my job. But I really, really enjoyed it. I think, obviously, Great Ormond Street has got such a great reputation because of all the work it does in general, but especially in rare disease and research, it’s a huge thing. There’s a big rare disease centre there now, which is amazing, and so many things have happened there that are mind-blowing. Some of the surgeries – it is ridiculous what has been happening! So, I’m just very thankful to be there.

And that was my way of trying to give back. I didn’t have loads of money to give the hospital to thank them for what they did for me growing up. But if I can give time, then that’s as good as money, in my opinion. I think that through the different panels and through the speaking engagements, hopefully that’s helped me inspire people to give money or to do something or just at least think about a hospital and consider it for a different time. So yeah, I really enjoyed doing all the speaker work for Great Ormond Street and, hopefully, that continues when COVID allows it.

FLG: Hopefully! Your main job now is working for the Rare Revolution Magazine. Would you be able to discuss what it is your favourite part of working for them as well?

David: I’ve been working for Rare Revolution for just over three years now. And the magazine has been going for five years. It was founded by two sisters. One of their sons has a rare skin condition called xeroderma pigmentosum (XP), and they’ve been running a patient group, I think, for the last eight years or so now, helping people with their son’s condition all over the world (quite often in South America, Africa and Southeast Asia, I think it’s the three biggest areas they help with XP). It is like an allergy to UV lighting, so people with the condition have to wear a mask to protect themselves from the sun and places have to be adapted. So, it’s really amazing all the work they were doing (and are still doing) with the patient group. And obviously that led to the magazine. That was five years ago. It’s the only rare disease magazine that exists, so that’s why they wanted to set it up.

And we’re a quarterly magazine, so in terms of how it works, half the themes are on conditions specifically like rare epilepsy, rare cancers, that kind of thing. And then the other half tend to be conversation pieces, so whether it’s on gene therapy – we’ve done one on transition quite recently, that was quite a good one. And you know, I really enjoy working with people all over the world, every different rare disease stakeholder. So, whether that’s patients or patient groups, charities, individuals living with a rare disease, caregivers, pharmaceutical companies, biotech, medical device companies, medical students, scientists – literally anyone you can think of that is involved in rare disease. We’re hopefully part of that with the magazine. We have a very global audience, which is really good to say. It’s not just speaking to people from the UK; it’s people from America, Switzerland, Canada, Australia, anywhere really.

I just really enjoy it. It’s nice to work with a great bunch of people that are all very interested in rare disease and have a passion to try and help drive change; everyone is really interested. And people that we work with are also really passionate about what they do. I think that’s really nice. My background, or what I was hoping that I was going do, was to work in finance. Obviously I’m not doing that now, and actually, it’s funny how life has led me here. I didn’t think I would be working in a rare disease magazine and doing different things alongside it. But actually, I think I’m probably better suited to this. I think it’s nice. I’m very comfortable speaking to all different kinds of people, and I think that’s probably my favourite part of the job, is to speak to people all day about different things every day, whether it’s the charity side of the magazine or whether it’s the industry side, and different people literally all over the place, different rare diseases. And it’s just fascinating seeing patients with different rare diseases to mine, with some of the similarities that everybody faces. It doesn’t matter where you live, how much money you’ve got, what rare disease you have got; everyone has got a similar pathway in something. So, whether it’s the time it took to get a diagnosis, or the battles that you faced trying to get a job or how it’s been to explain it to friends and family, or genetic testing, or whatever it is, everybody has got some similarity with all the different conditions.

There are 7,000 plus rare diseases, but you can pick two people from any different part of the world with different rare diseases, and I guarantee you they’ll still have an overlap with some of the things. I just find that really interesting. So, definitely just speaking to people is my main passion within the magazine, and just trying to make a difference and get people with rare diseases voice out there and, hopefully, that continues.

FLG: It’s a really great magazine and a great idea to, as you said, get patient voices out there. If you look at the rare disease community as a whole, what are some of the challenges that face the rare disease community? And how can the government and organisations do more to support this community?

David: From a very personal perspective, I think COVID is going to make things difficult. I think when COVID was probably only six months in, when people realised that it was going to be a big thing and it was going to be here for a long time, I was worried it would impact rare disease research. I think also fundraising for charities during COVID has been difficult because people outside of rare diseases have been losing their jobs and maybe did not have the same money – people that might have regular donated or were doing things struggled. The conferences have been virtual, which have been good, but there’s been very little meetups. So, the social isolation I think from COVID for the rare disease community has been quite a big thing.

One more thing on COVID, I think, would be things to do with hospitals. Even myself, personally, I find it really difficult to get my appointments. A lot of them have been on telemedicine, which has been okay, but it’s not suitable for everything by any means. And I’ve been discharged from clinics because they just had to shut for the foreseeable – I think they’re open again now. But, just from my perspective, I think COVID is going to have a huge knock-on effect for the rare disease community. I think that away from me – because I don’t fit into this group as such – I think a lot of the time people just want to be understood. Not everybody in the rare disease community has their actual diagnosis just yet, because sometimes it can vary. I know we keep coming back to Ehlers-Danlos, but that’s also the same. From the people I have met globally, not every doctor will consider it as EDS and will think it’s a hypermobility thing. So, people are being misdiagnosed or not being diagnosed at all. So, I think diagnosis is a huge issue for lots of people for a variety of different reasons.

And I think aside from a diagnosis, it is just the understanding. For a lot of the hidden conditions, or semi-hidden conditions, I think that’s a huge issue, because I’ve noticed this quite regularly. Just to give you an example, if I am ever using the blue badge for parking or if I’m using priority seats on a bus or a train, when people look at you at first glance, they just think, ‘Why is this young man sitting in a chair for old people?’. I think people need to forget this narrative that it’s just old people that can sit in disabled seats and parking. If anything, it also works the other way – not every old person is disabled. I’ve met people in their 90s that are miles fitter than I am, that probably wouldn’t need to sit in the priority. So, it’s this idea, especially with hidden illnesses, that’s a huge area that needs to be addressed in every aspect. The transport was hopefully an amusing example, but that’s just one part of it. I think it’s the awareness in schools and workplaces. They’re two things that I’m really passionate about and talk quite a lot about in my own presentations. I think a lot of the time growing up and in the education system at all different levels, so from primary school all the way up until university, I found dealing with my health and them not understanding any of that. I don’t expect them to understand EDS. Obviously, they wouldn’t have a clue about Occipital Horn either. I think it’s just getting them to understand that the spectrum of disability and illness is massive. I think my university didn’t really help me at all when I was trying to tell them what was going on. And I think that’s really common. I think that’s why a lot of people drop out of university, or don’t even go in the first place, just because they’ve heard horror stories. Hopefully that can change, and more people will go.

But yeah, education and workplace settings are two areas which will need a lot of push, especially after COVID, as I think COVID has made people realise, hopefully employers as well, that, actually, working from home benefits a lot of people. It’s not just people with kids that can do childcare easier. It’s actually everybody, especially people in the rare disease space. And quite often travel is one of the biggest limitations. Whereas if you can work from home, you know, I’ve got friends that work in all different industries that have all worked from home every day from COVID. Pretty much any company can make it work. Obviously, other than things you have to be there for. But aside from that, it’s proven that people can work from home, and I hope that that continues for some people if that’s what they want, so that gives them a chance.

I’m kind of going off on a tangent, but really the three things would be education and workplace, understanding of hidden conditions and quicker diagnosis for people (an accurate diagnosis as well). And one more thing, mental health. I think mental health now is getting the recognition that it deserves. I think it’s a long way to go, but maybe the stigma is being removed a little bit, which is good. Especially, again, from COVID, I think a lot of healthy people realised how difficult the isolation is, whereas for a lot of people, they won’t ever actually go back. This is a normality for some people in the rare disease space (not for me as such). But some people don’t leave the house that often or they don’t have a big friendship group because people never understood their condition, or relationships have broken down because of rare diseases. So actually, COVID has been like a stark wakeup call, I think, for some people that the isolation that you’re temporarily going through is actually a long-term reality for lots of people with a rare disease. I think that COVID has been an interesting wakeup call for some.

FLG: I completely agree with all your points, I think it’s true. Thank you so much for joining me today, David, and sharing your story. I really hope that in the future, there’s a lot more research within this area. So, thank you so much!

David: Yeah, thank you, Shannon! I hope your listeners have maybe learned something different or have a few different ideas. So, if you ever have any questions, obviously feel free to drop me an email and we can work something out.

FLG: That’s great. Thank you.

David: All right. Thank you very much.

Share this article