Lara Bloom is the international Executive Director of The Ehlers-Danlos Society. Finally diagnosed with EDS at the age of 24 (after many years of chronic pain and frustration), she channeled her healing into patient advocacy. Her job is to raise global awareness of rare, chronic, and invisible diseases, with a focus on the Ehlers-Danlos syndromes, hypermobility spectrum disorders (HSD), and related disorders. Lara manages coordinated medical collaboration, raising funds for research, and focus on global progression, education, and awareness. From 2013–2015, Lara was part of the specialized rheumatology CRG (Clinical Reference Group) working with the NHS, and she regularly works with umbrella organizations lobbying in British Parliament. She is a member of the Patient Empowerment Group for Rare Disease UK and the Rare Disease International Patient Advocacy Committee. Before joining the Society, Lara ran EDS UK from 2010-2015. In 2016, she completed expert-level training in medicines research and development, and became a fellow of the European Patients Academy, EUPATI. Lara played a key role in the recent international effort to re-classify EDS and create management and care guidelines. She was a published author on the subsequent classification publication in the American Journal of Medical Genetics (AJMG) March 2017, and serves on the steering committee of the International Consortium for EDS and Related Disorders.
Key links mentioned in this episode:
Join us as Lara shares…
- that she was initially believed to have Marfan syndrome – another connective tissue disorder
- that there was a major delay in her diagnosis of Ehlers-Danlos with hypermobility
- that before her diagnosis, she was prescribed certain surgeries which ultimately did more harm than good – and that she should have had different surgeries that were never realized
- that EDS’ best friend is muscle strength – and physical therapy is really helpful
- the dichotomy of the struggles she experienced with regard to her sexuality and disability as a teenager – and how tough it was to live with chronic pain from EDS while coming out
- The Ehlers-Danlos Society’s Project ECHO®, which aims to streamline diagnosis and treatment protocols for EDS by 2022 and empower medical practitioners with a deeper understanding of the syndrome in order to provide better clinical care – and access to said care
- that the international approach of The Ehlers-Danlos Society is really opening pathways to understanding this complex spectrum of disorders – and how this is inspiring not only Lara, but also her colleagues
- that there are currently 13 different kinds of EDS recognized, with a 14thin consideration
- that The Ehlers-Danlos Society has a global registry for patients to increase understanding of EDS, HSD, and related disorders
- that genetic testing is not fully accessible, which perpetuates our lack of functional clinical knowledge with regard to the spectrum of EDS and HSD
- the challenges of being in the public eye as a patient who “looks just fine”, works incredibly hard, and advocates so personally for EDS and HSD
- how demanding her work is – but that it’s worth it for the strides made forward in EDS advocacy
- how chronic illness has impacted her relationships, particularly on a personal level
- how a support system can make or break a chronic illness experience
- the role of fatigue in chronic illness – and in determined, non-stop advocacy
- the importance of positive mindset in symptom management
- the need for continued research into EDS
- that there is no such thing in the medical world as an EDS specialist
- the added challenge of having a disability that’s invisible
- why survivors of EDS call themselves Zebras
- her vision for the future of EDS diagnosis and treatment
Lauren: All right, thanks for joining us, everyone! I’m here with Lara Bloom, who is the executive director of The Ehlers-Danlos Society, which is an organization that’s in the UK and the US. And we’re here to talk about Ehlers-Danlos (EDS) and hyper-mobility disorders. So Lara, thanks so much for joining us.
Lara: It’s a pleasure. Thank you for having me.
Lauren: I guess we’re going to start with the basics — because you live with Ehlers-Danlos. I was wondering if you could tell us when and how you first realized that you had it going on?
Lara: I have the kind of standard story of a long journey to diagnosis that we hear about so often, wherever you are in the world, actually.
It doesn’t seem to be better in the US. It’s just everywhere, an average diagnosis of about 12 years. And that was my experience, too.
So I was finally diagnosed when I was 24 years old. After about 13 surgeries, and fracturing my wrist multiple times. Being told I was a hypochondriac and it was all in my head. The usual experiences that people have. I think that my symptoms probably first started, in a way that I felt like it wasn’t usual, around the age of 11. When I look back at my earlier childhood, there are some other odd things. But on a conscious level of, ‘I don’t feel like my friends seem to feel’ … it was around 11. I was always tired; it was hard to keep up. I fractured my wrist really easily, and it was the same kind of bone area. Actually within EDS, your bones — with the hypermobile type — aren’t fragile. But the tissues and all the connective tissues around it were very lax and injured with mine — so it made fracturing much more easy. And that’s why there were so many of them, and I now have my wrist fused, and thankfully they’ve been great ever since. But all of that happened without me knowing my diagnosis. Even when they were fused, they didn’t know what was wrong. And when you’ve got an 18-, 19-year-old girl in front of you that’s had 20-something fractures and no one was looking into why that could be … They were just like, “Yeah, well, you know, the tissues around it aren’t really there anymore. They’re torn and everything else, so we’ll just fuse them.” And it worked great.
But now knowing what I know, that’s just unacceptable to me. They don’t look at it on a multi-systemic level; everything is looked at in silos. Which I think is one of the reasons why EDS is so often missed.
But it’s the multi-systemic nature; it’s the fact that pain is everywhere. It’s non-specific, so it’s widespread pain. I was diagnosed with vasovagal syncope before having EDS — again because I’d pass out, and throw up, and feel really dizzy and clammy and sick. And then they diagnosed me with that. And I had endometriosis, polycystic ovaries; I had bladder issues. But no one ever looked at it all together. It was, like, “Oh, you’ve got that, and you’ve also got that — so we’ll treat that.” And it wasn’t until a dietitian finally sat down with me — because I wasn’t putting on weight, but I had very high cholesterol. So I went to see a dietitian. There were some things we could do to put on weight, but [other things we] could not — because of my cholesterol. And for the first time ever, someone sat down and, and said, “We think that you might have Marfan syndrome, actually.” I was referred to a geneticist and that’s when I was told that I had hypermobile EDS.
Lauren: Wow. So it’s been quite a journey. Do you find also … because you work with a lot of patients and with EDS research … are you finding that there’s a difference in the timeline between when women get diagnosed and when men are getting diagnosed, as well?
Lara: Unfortunately, there’s not enough men to really see a true consistency — because there are so many more women diagnosed than men. There are lots of anecdotal explanations as to why that is … complete hormones, which to me makes the most sense. It could be that men go to the doctor less than women — which I think is a little bit sexist in some ways, but it could be true. The fact that there’s more women on social media learning about their health? But these are all kinds of social observations, and one that’s never actually been researched and understood.
It came up as a research priority, actually, when we worked with the co-morbidity coalition of the Society; and looking into the hormones and the prevalence in women was something that was a high priority and something I hope we will carry out soon.
So I think you see a similar journey, from what I’ve seen. But you certainly have a very skewed female population.
Lauren: Wow, really interesting. So, you mentioned a little bit about fusion surgery and various things that you’ve done since your diagnosis — and even before it — to control your symptoms. Can you talk to us a little bit about how you’ve managed your symptoms — since the diagnosis, in particular?
Lara: Well, since diagnosis, I’ve managed it very differently.
I think as human beings, we are taught and we instinctively think that when there’s something wrong, there’s a surgery or there’s a pill to fix it.
Because that’s what society tells us. So growing up, if there’s a problem, you go to a doctor, and more often than not, they offer some kind of surgery to fix it. So, for example, before I was diagnosed, I had my knees operated on, twice, both at the same time. I was crippled; on one of them, I felt like I had to learn to walk again. I mean, it was so, so inappropriate to be done. But there’s a doctor telling you that will fix it — and you don’t know any better, and it hurts. So you do it. I was 15 at the time. My right leg rotates 40 degrees in. And my whole life, I’d gone to doctors about how much this hurt, and with the pain in my hip and the pain in my knee. And what should have been done is, when I was a child, I should have had something called a femoral osteotomy — which is to break the bone up in the thigh, and to realign it so that it’s straight and it relieves the pressure on the hip joint. But instead, an orthopedic surgeon got frustrated with me constantly saying, “I’m in pain, and I think it’s because of my leg rotation, because that makes sense to me.” And he said, “Well, I disagree. I think the knee surgery we did was the right thing. But to it prove to you, we’ll put you in traction for two weeks.” And they hung me from the ceiling — those were the words he used — to prove to me that it wasn’t because of the rotation. So they literally hung me from the ceiling in traction. At a very young age, to prove that wasn’t the cause of my pain. Now, I’ve seen three different specialists to get second opinions, who all say I should have had a femoral osteotomy and still want me to have one, because that’s now caused a labral tear, a glute tear, and lots of other problems that happen in my leg.
So, real frustration that I had surgeries I shouldn’t have had, and I didn’t get the surgeries maybe I should have had. And as an adult, that’s lessened my quality of life with that leg. And that’s frustrating.
And I’ve had two ankle surgeries which now, again, I wish I knew what I know now, because I would never have had the first one because it was to fix a torn tendon. As soon as I healed, it tore again. And it’s torn now; I’m walking around with a torn tendon. And I won’t have surgery because (a) I will heal poorly, and (b) I’ve got a connective tissue condition so it will just tear again. I think people have these surgeries that make them worse, not better. And there’s not that education and understanding — and knowledge is power at the end of the day. And I never take for granted how lucky I am to know the latest in this area, and research and thought around that. Most people don’t have access to that, and they should; it should be common understanding.
And orthopedic surgeons should know that they shouldn’t be recommending surgery unless it’s really, really necessary. And they should be offering better rehab, better physio, people that understand hypermobility — so you don’t just get a few sessions and that’s it, you’re not entitled to any more. This is a chronic condition that’s for life, and physiotherapy and rehab should be offered for life.
And that’s just incredibly frustrating to me. I’ve had a lot of stomach surgeries; I’ve got endometriosis and polycystic ovaries, so I’ve had a lot of cysts removed. I’ve had a lot of adhesions that have stuck my bowels, my pelvic floor. And they’re the kind of surgeries that, unfortunately, we just can’t avoid because we need to have them done. My liver is prolapsed and sits in my pelvis, rather than where it should be. Functionally though, it’s had no impact on my liver — so I’m lucky in that respect. So I don’t have anything that needed to be done on that. I’ve got a very, very extended bladder that’s prone to a lot of infections; it has a lot of mast cells over it. I’ve had three surgeries on that. I’ve had surgery on my elbow — and again, I wish I knew then what I know now and I wouldn’t have had that surgery. One surgery I was told I needed was on the TMJ on my jaw; one side dislocates most days, and it’s very, very painful. On a scan, there’s a hell of a lot of wear and tear. I was told I needed surgery, and I will never do it because this is probably the worst area of the jaw for surgery. Results are very, very disappointing. So, again, I only know that because I’m in a position to hear people speak about these things. But if you’re in chronic pain in your jaw and it’s dislocating all the time … and a surgeon says to you, “You should have that operation” … people do it. I remember very clearly an incredible man … he was a model in London, and he had multiple surgeries on his jaw. And he never, ever recovered. He was in constant chronic pain with it, to the point where he ended up hanging himself. He wished he could go back to the day where he never had that first jaw surgery. Out of anything to do with EDS, that was the end of it.
It’s so frustrating, living with such a physical, chronic condition that causes such debilitating pain. But really the best tool and the best thing that any doctor can give you is access to mental health support and CBT, and tools that can help you cope with the fact that you’ve got something that’s never going to go, that may get worse, and that you have to learn to live with it.
And that is the hardest part of all of it. But if you get that right, and you get the right system in place, then you’ll have the best chance you can have at quality of life. And I think that’s the biggest lesson that I’ve learned … that unfortunately, the cliché that a strong mind means a stronger body is not cure. It doesn’t mean events don’t still happen. But it’s a way to be able to manage it, and live with it, because it can have a real impact on every area of your life. For me, the switch happened since I’ve been diagnosed. The only surgeries I’ve had have been on my stomach where I had no choice, and I’ve had three ablations on my heart for arrhythmias; again, I had no choice. Other than that, I’ve said no to pretty much every single surgery that I’ve been told I need — on my labral tear, my glute tear, my meniscus tear. I’ve got a tear in my ankle, a tendon. All these things, I know, won’t heal well, if at all, and will just tear again. And so you just learn to live with it.
The best friend of EDS is to have strong muscles. On the whole, our muscles aren’t affected with EDS; they just take longer to build.
I actually had a really interesting conversation with a physio who said there’s no evidence that there’s a problem with muscles in EDS. What tends to happen is people are scared to lift heavier weights or to push themselves because of pain, subluxations, dislocations, and so on; there are videos, actually, telling them they shouldn’t. They don’t lift more or push themselves, and so muscles don’t grow. And I found that really interesting. I was, like, “You know what, that’s kind of true.” You’re told to do it really low impact, close chain exercises, go steady. And that’s great for maintenance, but it’s not really surprising then that you don’t see a big difference in muscle development. I know when I did the [London] marathon, for example, I did six months of intensive training. And there was absolutely a difference in my core and in my ability to be able to walk that length. But you couldn’t see it. It wasn’t like, ‘Ooh, I’ve got guns all of a sudden, and muscles that I never had before.’ It was much more subtle. And I think that’s what you have to appreciate, that it’s more subtle change than anything else.
Lauren: Do you see a difference between pre-diagnosis Lara and post-diagnosis Lara — aside from just the the mental attitude and the way that you’ve approached your treatment, but also in the way that it’s affected your relationships – personally, with your doctors, with everything?
Lara: For sure. I’m very different in many ways. Firstly, as you grow up and develop … I had a really hard time as a teenager, living with chronic pain and all the different issues that I had. I was obviously also struggling with coming out with my sexuality. That was another problem around the age of 15, 16.
You just don’t feel like you fit in physically, because you know your body just doesn’t seem to work like everyone else’s. And you don’t feel like you fit in emotionally, because you’re feeling things society tells you not to do. So it was a lot of things; I just didn’t fit in.
And I came through that, and I was getting stronger and stronger. But there was also this constant lack of validation of how you’re feeling. No one’s explained your enormous pain.
And really, that’s the main reason I do what I do — to enable people to get a diagnosis, validation, management and care when their symptoms first start.
And I don’t care what that diagnosis is. Even if it doesn’t turn out to be EDS. It could be something like lupus, it could be anything else. It could be another inheritable connective tissue condition. It could be HSD, it could be anything. I don’t think it matters what you’re diagnosed with. And that could be controversial to some people, because getting a diagnosis means the difference of them getting insurance or therapy. I understand those problems, too.
But I think we just need to work better on the structure of how our society is set up and how healthcare is, rather than trying to tailor diagnosis to fit into that. I think we need to get the appropriate diagnosis for what people are suffering with. And, if we do that at a time when symptoms begin, I think we’ll see people having a much better quality of life, physically and psychologically long term.
Genetic diagnosis fascinates me. I think it completely changes the outcome of the patient. I’d really like to look into this more, and I hope to be doing that soon. Because I think if we have some kind of evidence base for the difference in someone’s outcome, fighting for a diagnosis for many years, all the different hurdles that can come across — either being told they’re faking it, it’s in their head, they’re a hypochondriac; or if it’s a parent being told it’s FII [fabricated or induced illness], that it’s a fabricated illness, Munchausen’s by proxy, even child abuse. That’s going to completely change your outcome. Not just physically, but psychologically. We’re seeing increased prevalence of PTSD-like symptoms — which has been studied in fibromyalgia, for example, but not within our community. Which makes no sense, because of the similar experience.
And I think if we can show what these people are going through, to be able to access healthcare, to access management and care … they may wait three years to get that diagnosis, and then they’re sent back in the wilderness with no one around that can care for them.
They’re not being given regular physical therapy and rehab. And if we can get some kind of program in place where it’s like: Right, you get diagnosed with EDS or HSD, this is what should happen. And that’s what we’re trying to build with clinical pathways for diagnosis and management care. It’s what we’re trying to do with Project ECHO® so that we’re moving data, not patients; we’re creating a thousand new experts in EDS by 2022. I ran EDS UK for five years, and it was an amazing time. But I found that there was such a ceiling on national work that it felt like we were constantly putting a plaster Band-Aid over the wound.
And I feel like, for the first time ever, having The Ehlers-Danlos Society and this global collaboration across all fields, we’re finally looking at how we can heal that wound and not just stick something over it.
And really fix the systemic issues of not having enough people to care for these patients, and families. Of not having enough access in local rural areas. And trying to understand the genetic cause behind hyper-mobile EDS, trying to find the answers. And trying to get financial capacity to be able to give out research grants every year; there were none given for almost 20 years, ever, really. There was no update in diagnostic criteria. Just bringing these professionals, finally, all around the table to talk to each other and work together within the consortium … it’s incredibly exciting and inspiring. What’s happened in the last two years, just from giving people the platform in which it can happen — and that’s what was missing until this point. It wasn’t a new concept of saying you need something global. The doctors were saying it; it was obvious. But there was nothing there to actually take it forward.
Lauren: You mentioned that you had a genetic test when you were already an adult to get your diagnosis, and in terms of what you’re doing with Project ECHO® and how you’re trying to bring awareness to medical professionals to start offering this testing. What is the specific genetic testing that needs to happen in order to get a diagnosis of Ehlers-Danlos?
Lara: I didn’t have a genetic test. So to further complicate things, there is no gold standard for hypermobile EDS. There is no genetic test. There are 14 different types of EDS; about to be a 15th as well, I believe. And we know the genetic marker for all of them — except for hypermobile EDS, which is the most prevalent.
Technically, even hypermobile EDS, right now, is considered a rare disease because it’s one in 5,000. Anecdotally and clinically, we see that it could be more prevalent.
I think what will happen is, if we can show that HSD has that prevalence, we may prove as well that hypermobile EDS has that prevalence, too. But we need to prove that; it needs to be evidence-based. So we’re trying to work out a way to do that through our global registry. But the fact that it is just based on clinical examination and family history makes it a little bit harder to guarantee that you are diagnosing it in the right way, and consistently, no matter where you are. And so that’s what Project ECHO® is trying to do — to create this consistency. Through the consortium, we are creating common data elements. So for research, everyone’s using the same language. We’re creating these pathways so that these new specialists are created through ECHO, and long term have this pathway to know, ‘Okay, I know what I need to do to diagnose these patients.’ And of course, the dream is that we will get to a point where we can then offer a genetic test for hypermobile EDS as well. That would be the dream. But I think HSD will remain a clinical examination and registry, and we’ll just keep seeing new genetics found within that larger group. I think that’s how it will happen. It’s the long game here. We’re not going to announce next week or, you know, in a year: We’ve found the gene for hypermobile EDS. I think it’s going to be multiple genes. I don’t think that they will account for the whole group of hypermobile EDS; that could be 20%, that could be 10%. We might start to see that it’s the same kind of phenotype within that group as well. Or not. It’s just a whole new world. Finally, for the first time, we have $2 million to try and answer these questions. And even at the end of it, if we have no genetic marker for the hypermobile EDS, that in itself is an answer. Because then we can know: Where else do we need to look? But I think genetic testing should be more accessible for people. I think it’s quite hard when people are concerned they might have a rarer type when they don’t really meet the phenotype for hypermobile EDS. I’m actually going through my own personal journey right now with that. When I was diagnosed in 2004, firstly, there were only six types of EDS. And I hadn’t had any of the tissue fragility that I have now. So I’m not your normal, hypermobile EDS; I have things that aren’t usual. And I have recently been re-evaluated and told that they think I have a rarer type of EDS. This is a kind of brand new information that I’ve never spoken about, because I don’t know what that means. For the first time in my life, I’m getting a full, comprehensive workup. And they said, if nothing comes back, then I would probably be diagnosed with an unknown, rarer type of EDS. At this point, I’m 39. I’ve spent from 24 to 39 thinking I have hypermobile EDS; then to be told, ‘Actually, looking at you now, we think you have an unknown, rarer type.’ I could get my genetics back and actually find out it’s one of the known types. So the fact that it’s constantly evolving. And it’s not just me that that will affect.
I think the fact that genetic testing isn’t fully accessible to people is a shame. You’d think it’s about time that genetic testing is at a more affordable level, and that anyone around the world could access that without the help of a doctor being the person that determines whether that was appropriate or not.
Lauren: You mentioned about how, pre-diagnosis and post-diagnosis, you noticed a change in yourself and that it was affecting your relationships. It sounds very much like, because of all the education that you’ve been able to access about your condition, it has certainly empowered you to communicate with your doctors. But I’m wondering if at any point in the journey you’ve relied on an advocate outside of yourself, or whether you’ve always learned just to advocate for yourself personally?
Lara: So it would probably be better to talk to my wife about this! About how it affects me. Because I regard myself as being very strong and being very much in control of how this condition affects me. I’ve been told that’s true, certainly 100%, post-diagnosis. And I would say in my late 20s, really coming to accept this is chronic and learning that it really had to come from my mind more than my body — and how to deal with it.
But no matter how strong you are, the fact that you’ve got a body that lets you down — constantly — affects you. And I think it doesn’t help that people look at me and think I’m completely healthy.
It’s really sad, and this is not meant to be ‘woe is me’ … but I think one of the hardest things I find is that, honestly, I break my back for our community and I don’t ask for anything in return. Obviously, it’s my paid job. I’ve never claimed to do this voluntarily. This is my career; I love it. I feel very, very lucky to be able to do something I love so much. But I work day and night, seven days a week, pretty much 365 days a year to try and make things better for anyone with EDS and HSD — because I know how much is needed, because I am one of those people. And I find it really hard when you then get trolled within your own community on social media. [The trolls say things that imply] we’re not looking ill enough; we’re not representing the community. Or people questioning that I shouldn’t even be on a salary, because why should a nonprofit pay for someone to do something. You just can’t even get your head around [the fact] that people would think that, especially one of your own. And I’m, like, “Wow, guys, I’m doing this for us!” And then you realize that they’re, like, “Oh, you’re not one of us; you don’t represent me.” And I can’t possibly represent anyone. But it’s amazing actually how rarely I speak about being a patient from a personal experience. I can probably count on one hand the amount of times I’ve publicly spoken about my story. I think when I speak about EDS, I represent the spectrum — from people living around the world, on different wealth levels, different types of EDS on the spectrum. I try and represent that voice fully in everything I do. Because I think the thing that you’ll see with patient advocacy is that people think it’s always sharing your story and narrative … and I think what makes you able to do this long term and as a career in this profession is the ability to represent as many people as you can and use as many voices as you can. So that’s what I try and do. And I find it very, very hard to be exhausted at the end of the day, and then read on a forum the most hurtful things. And then I’ve got my wife and my work colleague, Sam, saying: “What are you doing? Why are you reading that?” And I say, “I don’t know. What am I doing?” The wonderful comments outweigh it. And you don’t do it for the likes and for the comments. But I think: I’m human! And so you feel, if I was in a wheelchair, or if I was struggling more, for some reason that would be more accepted. It is frowned upon …the amount of travel, or the amount I do, or the amount that I seem to be able to go to the gym. And no, actually, on paper, I’m just as bad as many of you; you just might have heard it in a different way. And that’s probably to be celebrated, not frowned upon. I have my bad days and I give in to those, and I have my symptoms, and EDS is still my demon that I’m trying to fight every day. And it’s there all the time. I’m on this podcast with my top half in clothes and the bottom half in my pajamas.
Lauren: We’re both like that! (laughs)
Lara: That’s the reality, I find. I had to call in my dog walker to take Ripley for a walk because it was just a bit too hard today. I haven’t left my desk. And you just manage. You change how you do things, you change things up — and that’s just life. My wife was saying something, about [how] meeting her really taught me about past relationships and how that demon got into it … this is even hard to articulate because it’s so on a subconscious level … but …
I have this fear of not being enough, of being a burden with my health. And the pattern is always that I’ll be in a lot of pain, which in itself I usually mask because I just get on with it … because it doesn’t help … you just invite that pain in for coffee, you know. Okay, it’s there and I’m having a bad day.
And so I don’t talk about it, that she can tell. Or I’ve gotten scan results back that are not what I wanted, or I’ve had this or I’ve had that and it’s playing on my mind. But on the outside, no one really can tell. But she can tell because, apparently, I then become … I guess, needier is the only word I can think of. I’ll panic or I’ll worry about things that aren’t real because I can’t panic or talk about the things that are real that are worrying me about my health. So I’ll make things up that aren’t there, and she’ll say, “Are you all right, because you’re being really annoying, you know?” And I’ll say, “Oh. Am I?” In previous relationships, I was always threatened by people … obviously, I’m married now, so I don’t really have that thing … but it was that you’ll meet someone else, someone else will be healthy and be able to lift your bags, or be able to carry you. I guess that comes because I’ve always dated women, so I’ve always, in my head, wanted to be the one that’s stronger, and lift bags … and I can’t, I can’t lift anything really. Or I take my nephew out, and I can only hold him for a short time and then she has to, and then I’m thinking, ‘Oh god, you know, is she thinking that it will suck to have children with me because she’ll have to carry them?’ It’s in my own head and I’m going there with that … and she probably didn’t even think it. But it’s that thing of not being enough, of being weak physically that makes me then so weak emotionally. And because I don’t let it show, it comes out in other ways. And so that’s still there today, you know, and I live a very good quality of life; I’m very much on top of it mentally, I don’t suffer from anxiety or depression.
And yet, you know, that demon is still there and gets in.
And so, people who have anxiety, or who have depression, who don’t have a supportive family around them … that demon can totally take over and be the difference of being able to have a good quality of life, or not. And I think that that’s so essential to take into consideration. So my diagnosis has helped, but it doesn’t get rid of the fact that you can feel weak in more areas than physically, and ‘not enough’. And that could just be my way of dealing with it, but I’ve heard others say the same.
Whichever way it transpires or it comes out, there’s no way on this earth that you can live with a chronic condition that impacts so many areas of your life, and it not affect you in some way.
Lauren: Absolutely. It sounds like you’re very lucky that you also have someone who knows your ‘tells’, and is able to sort of call you on it — which we all need on a certain level emotionally. But to be able to have someone who can read what’s going on, without you having to explain it — because all you do all day is explain it. It’s exceptional that you found someone who really understands it. So, you’ve talked to us a bit about how you get on with what you need to do for work, and how sometimes you have to call the dog walker in and things like that. For those who are listening … you have an amazing video blog that people can watch which you started in January, right?
Lara: Yeah, so … another example of just not having time … I’d actually been filming for the whole of last year as well, and I just couldn’t put it together because I don’t have time to edit it myself, but I found an amazing guy who does it for me every month. So I had all this footage, and I just had to make a decision of … okay, just park that and start fresh from January. The hardest thing to remember is to film things, because you’re just doing stuff every day and you kind of forget to press the “record” button … so I’ve been really annoying with people, saying, “Can you just film what’s going on right now?” You know, you’re that annoying person. A colleague who I work with is always like, “Oh, another VLOG,” when he’s the one having to hold my camera. But yeah, it’s fun, and I think it’s a great way for people to see what the Society is doing. And I try to involve some personal things in that.
Lauren: That’s been one of the things that I found really interesting, because … I can’t remember which episode it was, but there was an episode — might have been the first one, even — where you talked about how you’ve realized that, in terms of symptom management for you, the best thing is to just keep going. When you stop is when things get harder. And so you are constantly on the go. If anyone follows Lara on social media, or watches these video blogs … you don’t ever stop! So the fact that you’re getting trolls from within the community, is just appalling to me. But that’s the nature of trolling, I suppose. But to see the way that you just keep going and keep showing up, providing educational opportunities at different conferences, and that there is a purpose to all of this. It’s not like you’re running around and having a holiday! I don’t really think there’s time for that in what you’re doing!
Lara: First of all, it’s really lonely. I’m on my own. Obviously, work pays for my travel, but if my wife came with me, we’d have to pay for it. We can’t afford that, and it makes no sense, because 90% of the time I’m stuck in a meeting room all day. That’s not fun for my wife. But also, she’s an actress in the West End, so she’s usually on stage and can’t take time off. So it’s lonely, it’s relentless, it’s a lot of travel, it’s exhausting. It’s jet lag, it’s time zones. But honestly, I’d take that over sitting down and giving into it because … I think that the blog you refer to is January, and I’d just come back from vacation with my wife’s family to Canada … where we had very little phone signal, so I couldn’t work – even on my phone. And we just stopped. And that was off the back of, I think, six to eight weeks of relentless traveling; I’d done three weeks or something on the East Coast of the US, and West Coast actually. And then Australia. And then I’d been back for four days, and then we went to Canada. We just stopped. And honestly, I couldn’t stop sleeping. At one point, I said: “Is the fire okay? Am I having carbon dioxide poisoning? Because I cannot physically keep my eyes open. I can’t even join in in conversation. I feel like I’ve been drugged, that’s how tired I am.” And it was really obvious chronic fatigue that my adrenaline and my constant moving kind of kept at bay. The second I stopped … The thing is, when people say, ‘Well, your body needs it, you need it” … I didn’t feel any better. It didn’t make me recover in any way. It made me feel worse. I felt miserable. I felt depressed; I felt even more of that heightened … like, my wife’s family, everyone, was going skiing; and I literally sat sulking on the sofa, like a five-year-old. I was saying, it’s my wife’s fault for not letting me ski — which is ridiculous, because it’s, of course, not possible, and she’s just being caring and loving and saying, “You can’t ski because of your neck, because of your legs, because of everything.” And I’d make it suck for everyone else, because, of course, I’d fall and break something and I’d be that person being airlifted off. And for what? I got my way and went up and did one of those kind of accessible ski things. But it really was not good for me that whole week. I was telling myself, I’m sure your wife would rather be with someone else; everyone’s going off in their couples and I’m stuck at the chalet, totally isolated. Thank goodness, I get on so well with my wife’s family; I love them to pieces. Her mum and dad are so sweet, and I hung out with them. But it doesn’t take away from the fact that it’s my body that didn’t let me join in with everyone else for that activity. And it’s very easy for people who are skiing and having the time of their lives to say, “Just accept it. That’s how it is.” Yeah, you try it. I want to ski; I want to be with everyone else, and I can’t. I’d have to just sit by the fire, or walk around while everyone was skiing. It wasn’t good for me, for my mindset. And at the same time, I was also waiting for biopsy results and I found out I had skin cancer. And so it just wasn’t a great time for me, not really knowing what that would mean. Thankfully, it’s all being removed, and it’s fine. I may have to have a bit of treatment for my immune stuff. But obviously hearing that word, I was, like, ‘Oh god, what does that mean? Am I going to have more tests, or this or that?’ And so it was that stopping that just made me mentally worse — and then that, in turn, makes me physically worse.
The more I do, the more work, the more I get out and change things … then I don’t have to think about the fact that my body might hurt, or this and that. It makes me feel like I’m doing something to fix this instead of just accepting that this is how it is.
Because the joy of having this as a career …I’m ambitious, I studied, I wanted to do something with my career … and the wonderful side of it, if you take everything out, is that I’ve come into a career where it’s so embryonic. There’s so little that’s being done, there’s so much opportunity, there’s so much that needs to be done, that can be done. And that’s so incredibly exciting and adrenaline-pumping, every day! We’re going to change the world! We get to be involved with this, and we have the most amazing team of people. It takes a village, it really does. Dr. Clair Francomano always says that … I’m totally stealing from her … because it does, it does take a village. I’m often the face and the voice that you hear. But this couldn’t be done without, firstly, the unbelievable dedication from the medical professionals who, on the whole, give their time and expertise for free to make this stuff happen that we’re talking about … to the generous donors that have given, to make this possible for the first time in history, giving at that level. And to the incredible team and staff who daily look with such panic in their faces when I say, “Okay, we’re doing this now.” And they’re, like, “Oh no, another project, another thing!” And I’m: “Yeah, yeah, we’re changing the world, guys!” I know they hate me a little bit, but we’re part of something that’s inspiring and wonderful, and is changing people’s lives. And that’s really exciting to be a part of.
Lauren: Well, it gives you a purpose bigger than yourself to get out of bed in the morning, for sure, doesn’t it? So you also talk a lot about the chronic pain involved in the condition as well. Are EDS patients frequently also prescribed opioids and painkillers? You know we’ve got this crisis here in the US. Is that also something that’s part of the protocol, pre-diagnosis? Or that you’re seeing as a pattern? Or is it something that needs to happen more? How is that playing a role in EDS functionality?
Lara: I think the biggest problem is, again, that it goes back to lack of evidence. We don’t really know; we have so many people that take those medications. It just makes everything worse; it makes the GI problems worse. It doesn’t really help with chronic pain. But then you cannot not give anything because you’re basically leaving someone in chronic pain all the time. Personally, I don’t take anything for pain. CBT, mindfulness, mind over matter … which is the worst, most annoying phrase … but that approach, for me, helps me with the pain and like I said, that’s a perfect example of when I stop, that’s when I feel more pain. But there are people who are absolutely stopped in their tracks from pain, and we have to find a way to make that better. So we need to do controlled studies where we look at the different medications and the impact it has, and we need to do natural history studies, and we need to do longitudinal studies to really work out what impact causes different outcomes for people. Is it medication? Is it environment? Is it diet? Is it genetics? You see it worse in families. All these questions that we have, but we just don’t have the evidence or the research to answer. And pain management and fatigue management, two of the biggest areas … we just don’t know enough about it so we’re kind of throwing stuff at it … that’s probably not appropriate.
Lauren: You talked a lot about what it’s like working in your role, and how you’re just constantly on the go. I’m wondering if, outside of your experiences with medical practitioners, you’ve been forced to justify that you had something going on when people didn’t believe you? How often is that happening on a daily basis, even just when you’re at the airport or running errands, that you find yourself in a position where you have to explain and educate — and that the onus is on you to do that?
Lara: Firstly …
I’d like to say that there is no such thing as an EDS specialist. Doesn’t exist. So you’re either a geneticist, rheumatologist, gastroenterologist — someone who has taken an interest, and developed their skills and their knowledge within EDS. You don’t have a one-stop-shop doctor for EDS. So when we say EDS specialist, there’s not really any such thing.
Any doctor can care for someone with EDS; they need to be willing to learn more and understand more about the condition. So that’s why ECHO is so exciting. I’m finding more and more when I go to A&E – accident and emergency, I think you guys call it – I see a doctor who is not part of my EDS circle of doctors, and I have to explain less and less what EDS is. Which is really great. I still don’t think I’ve ever got to the point where I’ve just been talking to, you know, John Smith on the street, that doesn’t have a connection, family connection to EDS … that knows what it is. It’s still HSD and EDS; it’s still not a household name. Whereas something like MS … which is probably another rare condition … why does everyone know what MS is but not EDS when, for sure, HSD and EDS are so prevalent? So that’s one thing.
I think the fact that it’s invisible, the invisible nature of it, is hard. So I have a disabled badge. I don’t always use a disabled space when I don’t need it, because I’m aware that some people may need it more than me on some days. Some days, I really need it. But on those days when I do use it, you get that look, you-stole-that-from-your-gran kind of thing. You don’t have to be in a wheelchair or old to be disabled. And that’s really frustrating, too. I have the “please offer me a seat” invisible condition …
Lauren: This is a British thing; we don’t have that here.
Lara: Yeah, so I have that. Sometimes you go on a train; in a worst case, people just ignore it and you have to kind of point to it and you can hear their frustration … it’s been a really long day and I don’t want to be the one standing; I’ve got this seat but I have to give it … That’s really annoying. You know, I don’t think it would be the same if I was pregnant, or someone was with a stick on in a wheelchair.
And I’ve spoken to a lot of people that end up wearing braces, and using walking aids, just so that people around them can see what they might be feeling. That must be frustrating, because when you use splints and braces, they can be very helpful, but they also mean the muscles aren’t working. So that can increase debilitation as well. The world should be set up so that you can be someone who’s disabled — without splints, without walking aids, without a wheelchair — that’s just going about normal life. And for you to be respected and understood for that. And we’re not there yet.
In any invisible condition, not just EDS. And I think the awareness of EDS and HSD is, like, down here [indicates “low” with a hand gesture], and we need to do so much more. But that doesn’t surprise me that we’re not there yet. First, we need to know what we’re actually saying this is. That’s why the 2017 publication was so important; we hadn’t updated the diagnostic material in 20 years. How can we expect people to use it when it’s that old? It was like baby steps. Right … now we’ve got the latest mesology; that needs to be revised regularly. We now are helping to provide a platform to educate doctors, so that if they are willing to manage this, there’s somewhere for them to go. And so on.
So I think it’s a domino effect, that organically, over time, it will be more understood and it will be a more credible diagnosis. Because that’s the other thing … there are still medical professionals who say this doesn’t exist.
And if you don’t believe in a diagnosis … And so that’s why the genetic work we’re doing for hypermobile EDS is so essential. You really have to get people to understand what EDS is, and how life-impacting it is.
Lauren: And this is where the Zebra term comes into play. Do you want to tell us a little bit about that, for those who might not be familiar?
Lara: Yeah …
In medical school, doctors are taught that when they hear hoofbeats, to think of horses, not zebras. To not think of the rare. And so, EDS-ers around the world adopted the zebra as their identity, to say: Listen out for us; hear us, listen out for the rare.
The thing is, we let that evolve a little bit because with HSD now under our umbrella, which is certainly not rare, we have horses and zebras under our umbrella. What is still yet to be understood is whether hypermobile EDS is also that problem. But even if it’s not, we still have the HSD community that we care for. This blew my mind when I started reading about zebras, and what stripes mean and things like that … there is not one zebra that has the same stripes. But when you see a zebra, you know it’s a zebra. So, there is not one type of EDS, there’s not one place in the spectrum; we all have different stripes. But it would be really nice to get to a point where, when a doctor sees a zebra — sees a person with EDS or someone with HSD — they know it’s a zebra. They know what it is; they know it’s EDS or HSD. So I think in that way I love adopting the zebra even more so in that it’s rare; I love that. And then the other reason that we use it is when you see a group of zebras together, it’s called a dazzle. And I think at The Ehlers-Danlos Society, we really are trying to dazzle; we’re trying to dazzle the medical professionals into seeing what this is. We’re trying to come together and cause a dazzle with our patient organizations. So it’s an appropriate emblem for us.
Lauren: I think it’s a really beautiful metaphor. It makes more and more sense, the deeper you get into it, doesn’t it? So, in terms of these doctors in A&E, as you say they’re becoming more aware and more open to the idea of even the existence of EDS and the fact that if you say it to them, they’ll know what you’re dealing with … do you find, especially because you mentioned that there are no specific EDS practitioners and that you would be going to a rheumatologist or a geneticist … do any of these practitioners address the idea that patients of these conditions are shuttled from specialist to specialist to specialist? Are you developing a protocol for that within ECHO? Or is that something that needs to be developed more in the medical community — in terms of empathy and bedside manner?
Lara: Certainly, the dream would be a multidisciplinary team — an EDS Center so that all around the world, you’d have an EDS and HSD clinic, and cases would be discussed amongst colleagues. Each time, you would have a very small pool of referrals, because it would be in the same department in the same place, and you’d have all aspects of a multi-systemic nature covered, including mental health. That’s the dream; we’re far from that. But what we’re trying to establish is, like you said, those protocols where, through ECHO, we’re encouraging you to approach what is the ideal, and through the clinical pathways of where to refer to and how. And we need to prove [that it is a] burden on the patient [to make] multiple doctor visits. It’s okay if those multiple doctor visits end up helping managing care. But it’s when those multiple doctors say, “I don’t know what’s wrong with you … go to them.” So it would be so much more streamlined. You can’t just see one doctor, and you shouldn’t. But if everyone were actually talking to each other and working together … that would be the ideal.
Lauren: Do you often see that that EDS and HSD patients end up on government assistance, as well?
Lara: Yes, because often they’re not well enough to work. And again, I think if we could prove that, and how that journey and lack of diagnosis is ending up that people are much more ill than they need to be and they could actually work and prove to management that they can get things done. That’s the way that you start to make systemic changes, and that’s what we’re trying to do. On a government level, it’s showing constant healthcare systems and what happens when you mismanage the patient. And all the different impacts that come with that.
Lauren: And are you seeing a very big distinction between how healthcare and patient and symptom management happens in the US, versus the UK, for these conditions as well?
Lara: Not really. I think you have great examples in places all over the world. We spoke to a great team in Sweden the other day who are doing great work. Paris. Italy. There are certainly countries out there that have one person struggling to do everything. But there are great examples and bad examples everywhere. But even in countries like the US and the UK, that arguably have the most amount of EDS-aware doctors, there are still people that aren’t getting access to treatment. I think there are examples of clinics and people who are doing great things in lots of countries.
Lauren: I always wonder in terms, especially, of the economic impact as well. Because in the UK, you do have the NHS, so you do have a nationalized health system. But it seems like things like genetic testing …you probably have to go through a private health insurer, wouldn’t you?
Lara: Yeah, I mean, the NHS for me … again, it’s controversial, but the NHS is fantastic if you’re dying, if you have something immediate and urgent. I don’t think I’d want to be under any other care in the world … for that. It’s not so good for chronic health because when you go through a hospital, for example, it’s like Accident & Emergency … are you critical, are you dying? If not, okay, we’ll refer you to one of these clinics. Usually, they have quite a long wait, and again, there’s only a certain amount of visits or things that you can have. So for example, physiotherapy … you’re not going to be able to get physiotherapy for life; you’re not going to be able to get mental health support for life. It’s also geographically dependent on where you’re living in the country – what you have access to. So it’s a great system, a much-loved system … but it has its flaws.
Lauren: It’s very interesting … you mentioned that the system isn’t built for chronic illness. But my understanding, and my experience, is that none of these systems are built for chronic illness. All of the systems are not built for preventive; they’re built for when you’re actually sick. And when you’re dying, as you say.
Lara: This world isn’t.
Lauren: But that’s what you’re working to change as well, isn’t it? Not just awareness, but also dealing with medical practitioners and creating protocols and creating systems for referral. Which is just amazing that you’re able to do that through The Ehlers-Danlos Society. So, for anyone listening, definitely look them up and see what you guys are doing, because it’s really wonderful. So, we’re coming to the end here. And I’m wondering if there’s anything else you’d like to add, because you’ve had so many wonderful insights. Anything else you’d like to share before I get to my Top Three Lists, which is how I usually wrap up the interview? Anything else you’d like to share about your experience and your hope for the future? And what you see for the future of Ehlers-Danlos and hypermobile disorders?
Lara: I think people should be hopeful; I think we’re entering a time that we’ve never had before. We’ve got the infrastructure in place to really change things for people. I think people impatiently want it now — and I don’t blame them at all because I want it now, too. But they don’t realize the huge amount of complexities that go into every single change that needs to happen, and how things need to be done in the most appropriate, scientific, evidence-based ways … the way that we need to start at the bottom and work up, and not for it all to fall down. So, I think people need to be patient, but people need to be hopeful, be optimistic that things are changing. To realize, as well, how much people need to take a little bit more responsibility for things. So, for example, people are constantly saying ‘EDS isn’t rare! EDS isn’t rare!’ But the only way for us to prove that is to have everyone on our registry. For example, we’ve got 77,000 people following us on Facebook, and we’ve got about 5,000 on our registry. I’ll go to a conference where I’ll go into a a room, and there are people that are absolutely spouting, “You should do this! You should do that!” And I’ll ask them, “Are you on our registry?” And they’ll say, “Oh, I haven’t had time.” Well, give us 20 minutes of your life and show us … put your hand up … how many people are living with EDS, and let us prove that this is as prevalent as everyone is saying. So things like that can be frustrating. People kind of want it all now and they’re not really willing to realize the amount of work, even spending 20 minutes to put your own data onto a registry. So that’s frustrating. But then I also understand that frustration, because there are people that have no diagnosis, no management, no care, no family around, no friends around them, no support system whatsoever. And it’s heartbreaking. And we need to do more for that. The things that we’re trying to do, for example … we put on our conferences and events, and to see people’s faces when they meet other people with EDS for the first time is incredible. And something that we’re launching in May as well … we’re going to be starting virtual online support groups. Because if someone can’t get to a support group … they might be bed-bound, or they might not be able to leave the house; they might not be able to afford to travel to a conference … we still want to give people the online space to be able to talk, and just chat to other people like them. We’re just trying to concentrate and think of ways that we can bring the Society into people’s homes, and the work that we’re doing to change their lives as well. Not just the big broad strokes of things; how we can make everyone’s lives better. We’re constantly doing things, and I really would ask everyone to go on to our website, register for our newsletter and get updated with all the work we’re doing. Get on the registry, show us that you exist, help us to prove this prevalence and to show really what it’s like to live with this condition. And do what you can — if there are people out there that have the capacity, please support us financially to enable us to continue the work we’re doing because we don’t have the kind of government-level support the other conditions and issues have.
Lauren: Okay! Here’s how we wrap it up. I do these Top Three Lists, and, and I’m wondering what your top three tips are for someone who suspects they may be entering the world of EDS or HSD … what you would recommend that they do to take control of their situation?
Lara: On our website, Ehlers-Danlos.com, we have a Medical Professionals Directory … and on that, we have every single country around the world, and a list of EDS-aware doctors. And it’s not just doctors; it’s clinicians, physiotherapists, OTs, podiatrists … everything you can imagine. Go on there and find your nearest EDS doctor that can help you. Failing that, contact us at helpline@Ehlers-Danlos.com and ask us where you can go, what you can do. We have an amazing patient support team in our organization who can signpost you to where you need to go. And there’s lots of medical content on our website, as well.
Lauren: Amazing. It’s just wonderful that you’ve created a community and that you’re doing this virtual helpline and that people can reach out to you with questions and concerns — and you’re making yourself very available. So I’m sure the community thanks you for that; I certainly do! In terms of your own experience … our last Top Three List … I’m sure you’ve had to obviously make lifestyle changes to manage your own symptoms. And I’m wondering if you have any cheats or any guilty pleasures or secret indulgences, or even comfort activities that you like to engage in when you’re having a flare of pain, or muscular issues. What do you turn to?
Lara: It’s a tricky one, because, really, my Top Three would be to try and prevent all of that. I’ll give you a Top Six. So, my Top Three to kind of live your best life: a clean as possible diet. And there’s not one set diet for that. We try things until you feel better. What helps me the best is to avoid carbs, and avoid lots of sugar, and to just eat as clean as I can and to drink lots. The second thing is to do high-dose vitamin C, B12, B, and magnesium; that really made a huge, huge difference to me, more than I can even cover in this podcast. But if you go to my youtube page, there’s a whole video on what vitamins do I take and why; watch that and hopefully that can help. One of the most important things is to keep your muscles as strong as possible. Do as much movement as you can. Keep your core and your legs strong. It will help with health issues, GI problems, pain. And when you haven’t done that … which believe me, I know the reality of trying to maintain that daily … I struggle with it … is to find a good old boxed set on Netflix and indulge and rest. And honestly, this is my first podcast I’ve ever been interviewed on; I only first started listening to podcasts about three months ago, and it changed my world! Because when I’m traveling, there is nothing better than just sticking earphones in and listening to a podcast. I’m a bit of a politics geek; I like things about international relations, the war on terror. There’s a great one called Serial, about unsolved… oh, what is the word?
Lauren: Unsolved murders?
Lara: That’s the word! Brain fog! I find, sometimes, reading a book, even putting my head down and reading and concentrating on words on a page, it can hurt my neck, give me a headache. And sometimes it’s hard to focus when you’ve been really busy and at it. So podcasting is really great escapism, and I’ve loved it, and it’s been really fun to be part of this as well! Then the third thing is just being around people that love you and that you love, and that can make you smile and happy and forget about everything. I have an amazing circle of friends. I’m very, very lucky; they’re people I’ve known since I was a child. Every Monday night when I’m in the country, I have a group of girls that I’ve got together with for tea and gossiping — every Monday night since I was 15 years old. I’m 39, so that tells you how many years that’s been. We started off in a coffee lounge in a hotel down the road, and it’s evolved to different people’s houses when we first got our own flats. Now, most of them having children and us all being married. And we still drop everything and come around together on a Monday night and drink tea and dip biscuits and talk about everything. Things like that, to me, are a real comfort.
Lauren: That’s really gorgeous. It makes me want to have a Monday night gossip and tea sesh with my girlfriends now. I’ve got to talk to them about getting that together! Well, Lara, it has been an absolute pleasure to speak with you, and we’ll certainly link to everything that you’ve mentioned — including, and we didn’t really get into this too much, but there is a documentary about you walking the London Marathon back in 2011, I believe. And this is all on Lara’s website as well, but we’ll link to it directly on the podcast page because it’s really worth watching. You’re really just such an incredible human, and as a host of a podcast like this, to me, the greatest gift is that I’m able to sit and commune with people like you who are not only surviving — and surviving gracefully — with these illnesses, but who are also advocates. And the fact that you’ve made it your life’s mission is exceptional. So I can’t thank you enough for being on today. It’s been such a pleasure, and I hope we’ll have you back again soon.
Lara: Thank you! I’d love that. Thanks for everything.