LIVING WITH EHLERS-DANLOS SYNDROME: Sarah Hamilton's Insights on Diagnosis, Management, and Advocacy for this Rare Disorder

Are you ready to unravel the complex world of Ehlers-Danlos Syndrome (EDS)? This in-depth discussion with Sarah Hamilton from Ehlers-Danlos Support UK is set to provide an enlightening perspective on this rare connective tissue disorder that affects roughly one in 500 people. From offering a closer look at the myriad of symptoms to unravelling the challenges in securing an accurate diagnosis, this comprehensive dialogue is designed to shed light on the often overlooked serious consequences of EDS.

As we delve further into the societal impact of EDS, one cannot ignore the inadequate government response to the healthcare needs of those affected. The narrative of EDS going undiagnosed due to scarce resources, lack of education, and a lackluster government response is sadly all too common. Yet, as Sarah and I explore, it's not just about joint issues; many individuals experience more debilitating symptoms and are left without adequate support. 

Beyond the academic discourse, our conversation takes a pragmatic turn as we discuss self-management strategies and workplace accommodations for chronic illness. Sarah lends valuable insights on the importance of self-advocacy, pacing, and advocating for reasonable adjustments at work. We also examine the potential impact of initiatives like the red seeds framework, the major conditions strategy, and MSK services. If EDS affects you or someone you care about, this conversation is a treasure trove of insights, strategies and hope. Tune in, learn and lend your voice to the conversation.

https://www.ehlers-danlos.org/

Transcript

Angela Walker: 0:06

It's a rare connective tissue disorder with a range of symptoms from joint hypermobility through to gut problems and organ prolapse. It was thought to affect one in 5,000 people, but the latest research suggests it could affect one in 500. I'm journalist Angela Walker, and in this podcast I talk to inspirational people and discuss under-reported issues. Today I'm in conversation with Sarah Hamilton from the Ellers-Danlos Support UK. Thanks for joining me, sarah. First of all, what is Ellers-Danlos Syndrome so?

Sarah Hamilton, Ehlers Danlos Support UK: 0:41

Ehlers-Danlos Syndrome are a connective tissue disorder. There's 14 different types, 13 we can genetically test for. They're the most common type, the hypermobile type. We can't and it's basically a fault with the collagen within the body. And our collagen is the mortar between the bricks, kind of building blocks, so when there's an issue with it those bricks are unstable and it can affect organs. Collagen is in everything within our body the eyes, the organs, the skin, the joints so we have this instability and instability throughout the whole of the body.

Angela Walker: 1:17

So there are so many symptoms. I know hernias, prolapses, heart problems. How bad can the symptoms get?

Sarah Hamilton, Ehlers Danlos Support UK: 1:30

The biggest issue is lack of management, which will then lead to symptoms becoming worse and worse and worse until it gets to a point where we do have people in the community that need to use wheelchairs. If it's affecting the gut, then they need to have peg feeds and things, and that comes from not knowing what it is, that they have not having appropriate management and medical support to get on top of that. So it works in a bit of a spectrum, but we do see this kind of line of affecting people in very different ways, but much more towards a severe end of things is ending up in wheelchairs and affecting daily life very heavily.

Angela Walker: 2:08

One of the reasons that I wanted to talk to you is because I've got joint hypermobility syndrome myself. I didn't find out till I was in my 30s and it really started causing me problems after I had my daughter and I had really bad sciatica and I had prolapses and I had hernias and what happened was all of these various ailments that I had were looked on as different conditions and it took a long time before anybody said, oh, you've got joint hypermobility syndrome, it's a collagen issue, and nobody was really looking at it as a whole. And so I was looking in some support groups and that seemed to be a common complaint. Other people like me who had joint problems and various other ailments were saying you know, I'm being sent to the physio, I'm being sent to a physio to look at my joints, I'm being I'm being sent to somebody else for my migraines, and they weren't really looking at all of the complaints as one whole condition. Is that something that you come across?

Sarah Hamilton, Ehlers Danlos Support UK: 3:14

Yes, absolutely, and I think as well with the way that our medical system works. So you go to the GP with an ailment, you've got 10 minutes and you're allowed to speak about. One thing For the problem with EDS, like you mentioned, is that actually it's affecting lots of different things. So you end up going down all these different routes and you struggle to get someone that sits down and looks at all these puzzle pieces and puts them together to see the big picture. And it means that patients kind of go round and round in circles and, as you mentioned, often don't get diagnosed with anything until they're in their 30s and 40s, for instance, when it reaches a point where you kind of go, there's clearly something going on here. This is clearly all connected and quite often it's the patient of cells that put everything together and go.

Sarah Hamilton, Ehlers Danlos Support UK: 3:58

This is what I think is going on. This is what I think I have, but it is unfortunately very, very common. I think average diagnostic time is 11 years. It's definitely a lot higher for most people. We know we've had people kind of 60, 70s, 80s that have then gone on to be diagnosed, but from childhood they've seen all these issues. It's just never been put together.

Angela Walker: 4:20

It's so interesting. It wasn't until I was signed off work with really bad sciatica and then I saw a private physio who said, oh, your pelvis is really out of alignment. And it had been out of alignment for a few years by then, since I'd given birth and I'd had, you know so, a numb leg and I couldn't drive and I was in a lot of pain. And, yeah, I saw a private physio. So, oh, yeah, well, you've got joint hypermobility. And I was like what? So I hadn't even been given that diagnosis before. But when I was given that diagnosis, it meant that I could make some lifestyle changes, like pilates I found really helpful and stuff like that. And now I'm under the care of a rheumatologist. But what can we do then? Do you think to see people getting an earlier diagnosis and help sooner?

Sarah Hamilton, Ehlers Danlos Support UK: 5:12

I think the biggest thing is awareness and education. At the minute you go to the GP and quite often the GP will say, oh, I've not come across that or I think it's super rare. I don't think it's that. And it's changing that narrative. It's having the GP acknowledge and recognize oh, I know what that is, I know about hypermobility spectrum disorder, I know about hypermobility, EDs and the rare types too. But then also knowing what to do from there so a GP can diagnose the hypermobile type.

Sarah Hamilton, Ehlers Danlos Support UK: 5:41

So that would be the best scenario is that all GPs have an awareness and training in it. That patient comes in, they go yeah, I know exactly what that is but also from there, that they have the tools to know what to do with those patients. Because diagnosis is all very well but, like you said, there needs to be management of it. Do we? Depending on the level of severity, do they need to have a referral to gastro, making sure that physios are all aware of it as well as they give appropriate management, encouraging patients to self manage as well with things like pilates, which are accidents, swimming, walking, etc. So just giving those tools to the GPs and primary care physicians would be incredibly valuable and I think we make a huge difference, not just to diagnosis, but to quality of life for patients as well.

Angela Walker: 6:28

And you mentioned earlier that there's like 14 different types. It is so confusing when you've got a condition and you're trying to go right, how can I help myself? I'll do some research. You know, I'm a journalist, I'm used to doing research. And then you go oh my gosh, well, which one have I got? Have I got this? Have I got that? And you said that it's been like reclassified and they're renaming things and rejigging it . So what exactly are the experts you know saying now about the different types of Ehlers-Danlos?

Sarah Hamilton, Ehlers Danlos Support UK: 6:58

So I imagine it will go up. Even since 2017 classifications we've had more types. The idea, hopefully, is that they can locate the gene for the hypermobile type, because that makes diagnosis a lot easier. But from the research that they're doing, it seems much more complex. The hypermobile type. I imagine, as time goes on, that it will go up and up and up. I mean with the genetic clinics.

Sarah Hamilton, Ehlers Danlos Support UK: 7:23

Currently, if you go through the genetics clinic, they not only test for those 13 types that they can test, they run a panel for all connective tissue disorders. So they're very aware that there is major crossovers and, as you said as well, when you're looking at these things online, they all kind of crossover and it can be really intimidating and difficult to work out Okay, which type do I have? Because I'm ticking this box and that box and there's not much clarification and, especially with the rare types, there's not much known. I mean, we have some types where it's family specific. They have their own type of EDS. So the knowledge that we have of that type is very, very minimal.

Sarah Hamilton, Ehlers Danlos Support UK: 8:03

And it's very difficult as well, because there are some types where you kind of say, where does it even differ between these two types? How would you distinguish and as a charity. That's where we're really helpful kind of coming in, because our knowledge is slightly more in-depth and we have a picture of those patients as well in terms of we can physically describe the differences, which I think can be very helpful, because when you're reading it on a page it can be very vague, it can be very open-ended. It's really difficult to know as we can kind of pull out those questions to really help people go. Well, actually it's worth going down a genetic route to look at this. Something there, or actually know, sounds a bit more hypermobile EDS, but chat to your doctor and bring up these points. So it can be very difficult. I imagine, as time goes on, the list will just get longer with the more research that we do.

Angela Walker: 8:51

And I know that, as a charity, you've been petitioning the government to put more research, more money to make some changes into the way that hypermobility syndromes are looked at and looked after. Tell us about this campaign.

Sarah Hamilton, Ehlers Danlos Support UK: 9:07

Yes, absolutely. So, our campaign has been pushing government to invest in primary care and secondary care, for awareness and education in hypermobility as an HSD and really pushing them to put something in place for these patients. Currently there is absolutely nothing. I work on the helpline day in, day out. I get people that call me and I have to explain to them that there's not much I can do to suggest where they need to go or what to do, because nothing exists. There was one clinic at UCLH and they closed it during COVID and Dr Hanadi Kaz Kaz was working really hard to try and get that clinic back open. But it kind of pushed with that campaign of us saying you know, enough is enough that all these patients don't have appropriate care, they don't have appropriate pathway and the government needs to put those resources into changing that education to those primary sources will make the biggest difference to the patients and enable them to get care.

Sarah Hamilton, Ehlers Danlos Support UK: 10:07

And currently at the minute, if you're not getting diagnosis, if you're not getting management, you're ending up in A&E, you're ending up having to have emergency treatment, you're ending up having to be in a much worse position, which, if you really want to look at cost of things, which is what often it always comes down to, that is a 10 times more expensive supplying that level of care than if, from the get-go, you had a GP diagnosis and you had physio put in management and you had a referral to, say, gastro. That's a lot cheaper than having to wait years and years and years until you get to a point where you need all this severe emergency treatment. So petitioning the government to say actually this is going to benefit not only the patients but in terms of the way that the system works as well. It's going to benefit everyone and make a difference.

Angela Walker: 10:56

How much support have you got for your petition?

Sarah Hamilton, Ehlers Danlos Support UK: 10:59

So currently for England we have 23,000 signatures and then for the Devolve Nation, scotland, northern Ireland and Wales. Their levels of house and office are much lower, so we've got a couple of thousand in each place and especially for Scotland, wales and Northern Ireland there is nothing. Northern Ireland have one pediatric rheumatologist for the whole of the country, wales I don't think they have any, and Scotland a similar situation. So across the country it's very, very dire and especially in the smaller nations there's absolutely nothing for patients to access. There's not specialists.

Angela Walker: 11:42

Let me just read out the government response, because they have responded to your petition and this is what they've said "there are no plans for a national service for diagnosis or treatment of HEDS and HSD. Our plans for musculoskeletal conditions will be outlined in the major conditions strategy. And then it talks about how Ellis Danlos comprises a group of inheritor conditions affecting connective tissue and it says there is no specific treatment for either condition but it is possible to manage many of the symptoms with support and advice, and that they want clinicians such as GPs and expert physios to be empowered to identify and diagnose HEDS and HSD. What do you think about the government reaction?

Sarah Hamilton, Ehlers Danlos Support UK: 12:30

Inadequate, I think, is the best way to describe it and disappointing as well. It kind of demonstrates that they've not grasped the condition itself and the effect that it has. And, yes, it would be fantastic to empower GPs and expert physios to be able to put these things in place. But it's a multi-systemic condition. It needs a multidisciplinary team and although MSK would be good for a small section of it, what about all the other symptoms that we're looking at? What about bowel and bladder issues? What about prolapse? What about healing?

Sarah Hamilton, Ehlers Danlos Support UK: 13:02

It's such a bigger pitch than that and it was trying to communicate to them that it's not just an MSK situation. It's a condition that is unusual in the terms that it covers a lot of things, but their response just shows again a lack of understanding of the condition and how it affects people. For a lot of people, the joint side of things ends up being the lesser issue. When they're unable to eat, when they're unable to go to the toilet, those become the things that take over their life and, again, that they're not getting help and support and management for. So, yes, the response wasn't great and it's kind of pushed us to push harder, to say Again we disagree and things need to change.

Angela Walker: 13:47

Because it does encompass so many different symptoms and I think that's one of the confusing things, isn't it? I mean, personally, I get migraines, dry eyes, prolapses, hernias, very crunchy, painful joints, and you know, and I'm affected very mildly compared to some people who get daily dislocations, digestive problems, bowel problems. Maybe we need to classify them, maybe they need to be classified more specifically in terms of the conditions, do you think? Why is there such an overlap? I know it's to do with the collagen, but it seems to encompass so many different symptoms.

Sarah Hamilton, Ehlers Danlos Support UK: 14:31

Yeah, absolutely, and it is a really difficult one in terms of kind of everywhere it affects, and I think the biggest issue is because it's a collagen problem and that collagen's and everything. There's kind of not part of the body that goes untouched by it. And I suppose it's very unusual in that, you know, most conditions that we see will affect a certain thing. So, for instance, if you've got arthritis, it's specific to joints and causes pain. If you have um chrysanthemum colitis, it can be specific to the, the bowel.

Sarah Hamilton, Ehlers Danlos Support UK: 15:02

Here we're looking at a condition that's extremely complex in that it just seems to affect everything. And why does it do that and how does it do that and why is it different? Even within the same family? We can look at them, I say a mother and a daughter, and their symptoms are completely different. So we understand that it makes it extremely complex in trying to work out what it is that's going on and the hope is, with time and especially with things like being able to find a genetic test for that type, it just makes it easier to kind of pinpoint what specifically is going on with that condition, what is causing it, where does the issue come from, and are there even kind of subgroups to that as well. Like you said, it kind of where's our spectrum? It's? We've got different levels of severity. Is it that there are more severe types of the high mobility type, or is it just the way it affects people? And I do think it is an unusual condition in that sense of it just seems to affect everything.

Angela Walker: 15:55

So meantime, while the government's dragging its feet, or while the government's saying no, it doesn't have any plans to improve the situation. What does that mean for sufferers?

Sarah Hamilton, Ehlers Danlos Support UK: 16:07

It means there's nothing currently, whilst those feet have been dragged, it means that everyone else has come to a halt and that there's nothing in place for them. We've been working, trying to do awareness and training with specialists. So next Wednesday, for instance, we've got a medical professional training session with Dr Jane Simmons where she's teaching about EDS two medical professionals but what you're relying on there is them seeking out that training, whereas if you get the government involved to make it mandatory, to make it compulsory, you're going to reach huge portions of people that need that care and attention. It needs to change. I mean, currently you can go to local physio, for instance, and they just don't understand about how the exercises may need to be different, how they may need to be more gentle because they're not like everyone else.

Sarah Hamilton, Ehlers Danlos Support UK: 16:59

It could be that you, you're telling them to do an exercise with their shoulder and it's dislocating it. It has to be specific and there has to be education into how the condition affects people and at the minute, most people end up self managing or trying to put self management in place because there's just nothing else and we we can give as many resources as possible. We can refer to those clinicians who are willing to help, who are pushing as well to get help in place but, again from their point of view, they're often one person in a huge area. Their their at capacity and struggling to help as many patients as possible and not knowing what to do or where to send them either and you talked about self management.

Angela Walker: 17:44

What can people who've got a hypermobility disorder do to help themselves?

Sarah Hamilton, Ehlers Danlos Support UK: 17:51

Things such as pilates gentle pilates can be really helpful. We've got great resources on our website where we've had free pilates sessions that can be done from in bed if you're wheelchair bound, if you need to take it really slowly, and gentle walking as well. And what's really important is pacing. So it may be that you could walk half a mile, but at the end of that half a mile you're in considerable pain. So the idea with pacing is that you scale that back. So actually I'm just going to walk for a minute. At the end of that minute I'm not going to have pain and I'm going to build that up very, very slowly. So eventually do two minutes, then three minutes, and the idea is that eventually you'll be able to do half a mile, but you won't end it in pain and you build it up incredibly gently. There is this kind of misconception because it says all exercise is really helpful and that's sometimes taken as oh, get down the gym and get on a treadmill and we're actually making. That's not the best thing for you.

Sarah Hamilton, Ehlers Danlos Support UK: 18:45

That's going to be really hard on your joints. It's going to cause a lot of problems. It needs to be super gentle, it needs to be very kind to your joints. Hydrotherapy is really good. I mean, that's just the joint side of things in terms of people who are doing self-management for gastro. They can check their doctor about deficiencies, about intolerances is a certain thing setting off your gut and kind of investigating what it is and where the problems lie.

Sarah Hamilton, Ehlers Danlos Support UK: 19:10

So sometimes kind of taking that, you know, taking charge of it and saying to the doctor okay, I'm having these gut issues. I've looked at these papers. I think maybe these things might help coming just either, and can you support me in doing them? Self-advocacy is the biggest thing. Being able to speak up for yourself and to go in and say actually I'm struggling and I need help is One of the biggest things. A self-management is to kind of say to the doctor you have to help, you have to step in here and Give me tools as well, because there's only so much you can do as a patient at home. Well, you need to say to them Hello, can you support me in?

Angela Walker: 19:48

this Self-advocacy so important, isn't it? Because there was a point where I went to the GP and I was like, look, I've got sciatica, I've got two hernias. This isn't normal in a woman of my age. Something is going on. I need to. I need to get this properly investigated. So, but it can be really hard to self-advocate and also, you talked about pacing is really hard for people to go. I'm having a really good day, but I'm gonna rain it in, because if someone's having a really good day, then they want to get all the stuff done.

Sarah Hamilton, Ehlers Danlos Support UK: 20:22

Absolutely. It's, yes, pacing on paper Brilliant. Doing it in real life is really difficult. I mean, do say to people as well give yourself some leniency if it means that you know it's a Friday night and you really want to go see your friends. You haven't seen them in ages. You know that you're gonna be wiped out for weekend. You know it's gonna take it out of you, but you know what actually feel mental health. It's worth doing.

Sarah Hamilton, Ehlers Danlos Support UK: 20:45

You know life does get in the way. We can't be perfect. You know, as someone who tells everything the ideal, perfect thing of how you should manage it. As having heads myself, I know I'm guilty of not Not doing those things and like good day and you rush around and you fly around the house and it is difficult to be strict with yourself. We do say to people please be kind to yourself as well. You are only human. Life gets in the way. We are busy people. When you're trying to keep on top of things Work, family, social life, all these things come into account and if you are having a good day, you kind of have this flurry of I need to get everything done and you know, although not ideal, it's okay.

Angela Walker: 21:26

We understand that that happens. It's about saying do you know what? I've got my kids sports day tomorrow and I want to be really well for that. So today I'm gonna take it easy getting that balance, isn't it? Let's talk about work, because you know it's one of these hidden illnesses, isn't it really? People can't tell if you've got Sciatica, if you've got really painful joints, if you're feeling exhausted. So what can people do to manage their condition in the workplace? Reasonable?

Sarah Hamilton, Ehlers Danlos Support UK: 21:54

adjustments and access to work, the kind of top things that we suggest. And, as you said, it's a really difficult one. It's an invisible condition. You often it very well and you look perfectly fine. So kind of explaining to people that that's not the case can be difficult. Encouraging work to do an OT assessment so that they can have a look at what they can put in place.

Sarah Hamilton, Ehlers Danlos Support UK: 22:14

But simple things such as you know, if you have your chair change, you have a sitting standing desk, if you're able to work from home, you know, in all these things staying in work most people want to stay in work, don't want to be in a position where they're not, and they're able to do that if the right things are put in place. If they're working, hours can be changed. For instance, you know, if they struggled to get up in the morning, can we start later in the day and work a little bit later and to have those conversations, work today. It's not an unwillingness to work. That's what you want to work. But I do need support and having these things in place.

Sarah Hamilton, Ehlers Danlos Support UK: 22:44

Government schemes such as access to work fantastic as well, and they just put in place what you need. You need a wrist rest, do you need a Program so that you're not typing if your fingers are dislocating, and do you need an ergonomic chair? Do you need a heat pad? There's so many things that they can put in place to make your life a lot better From a workplace point of view as well. You know, quite often the government's able to fund that as well. So, especially depending on the size of the company, it's not even them funding that equipment. As government funded, there's no reason not to put it in place, especially when it makes a really good to know, isn't it?

Angela Walker: 23:20

because I think sometimes people they don't want to Tell their employer because it almost feels like it's a sign of weakness and they feel that if they, if they've got, you know, a smaller employer, they don't want to put them to the expense or whatever. So it's good to know that there's that government funding there. And just finally, I know that you said you're not leaving it there when it comes to campaigning the government for more funding and more helpful people with elis danlos, where are you taking this campaign next? What's like the next step?

Sarah Hamilton, Ehlers Danlos Support UK: 23:52

The next step is hopefully to have a discussion, have a room and get MPs involved. So we have had some MPs come forward and say actually I've got people within my constituency who are really struggling and I want to support you in this. So Ideally we reach that hundred thousand signatures so that it gets discussed in parliament. We're at twenty three and a half now. We're really hoping to have a really big push. But from that we made great connections of MPs at once.

Sarah Hamilton, Ehlers Danlos Support UK: 24:21

That campaign ends want to be handy in. You know, go and take that shoebox and hand it over. We also have a room where we can have MPs coming in the napkin the day and but also working closely with those MPs that have come forward. That campaign has opened the door to so that we still got up in the door with, still pushing, moving it forward. It's what it's done really well is highlight the issue and highlight that that is a problem and that problem is being acknowledged by people. So I think going forward is that we're continuing to push, getting more people on board that have influenced, help things and also working with the medics as well to save them. You know what can we do to help if you want to get involved in this. How can we Help with awareness and training and education so that you're able to best support patients as well, just pushing everything in the right direction to hopefully make things better for patients.

Angela Walker: 25:14

The government did talk about and I have a mobile seen jones being outlined in the major conditions strategy. Do you feel like the condition is being overlooked?

Sarah Hamilton, Ehlers Danlos Support UK: 25:27

Yes and, I think, trivialize slightly in the sense of that it's. It's kind of yeah, we acknowledge it, but there's not much that can be done. There's no cure. The physio and it will be okay, it just seems to be that needs to be looked at. They did initially as well, with their reply, discuss the red seeds framework. We immediately come back and says not read these, so it doesn't come under that. Which is that? Now they've come back and said about the major conditions strategy and about the msk services and we've just said it's just not enough. There needs to be more and there needs to be an investment in this, especially with the amount of people that you know. It isn't got huge proportions of people who are affected by this. The difference it will make people would be huge if that investment was, and so thank you so much for talking to me.

Angela Walker: 26:20

Say it's been really interesting, thank you. Thank you, angela. Today I've been in conversation with Sarah Hamilton from Ellers Damlock support UK. I hope you've enjoyed our chat. Please do share, review and rate us, because that means, due to the algorithms, more people will get to enjoy this show. Thank you so much, and if you'd like to get in touch, you can contact me through my website, angela Walker reports dot com.