In conversation with Sabeeha Malek
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Natasha: Hello and welcome back to The Rest Room, the podcast about living well with chronic illness. I’m your host, Natasha Lipman.
Can you now (or could you ever) place your hands flat on the floor without bending your knees? As a child or teenager, did your shoulder or kneecap dislocate on more than one occasion? Do you consider yourself “double jointed”?
Those are the types of questions a patient will be asked if they’re being tested for the Ehlers-Danlos syndromes.
If you’re a long-time listener of the show, you’ll know I grew up with undiagnosed EDS. It wasn’t until I was 21 and my physiotherapist happened to be on holiday and I saw someone else who had just happened to be on a course about EDS that I was told that my body might not just be “weird” like I always thought- but there might be a reason why I was experiencing all these things none of my friends were.
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The Ehlers-Danlos syndromes are a group of connective tissue disorders, and there’s also the hypermobility spectrum disorders or HSDs, which are closely related to EDS. Because these disorders can manifest in so many different ways, each individual’s experience with EDS or HSD is their own, and may not necessarily be the same as someone else’s. This makes diagnosis difficult – especially since some of the methods used in the diagnostic criteria are outdated and frankly not fit for purpose. In fact, there’s not much evidence that The Beighton Score – which you’ll learn more about in this episode – was ever a good measure of whether a person has EDS or not.
But why is that? Why was the method, originally introduced for epidemiological studies, used to test for EDS?
It’s a question my guest Sabeeha Malek is trying to find out the answers to. Sabeeha is a PhD student doing biomedical research into EDS. She also lives with hEDS, which has motivated her line of research. She first wrote a publication about the limitations of the Beighton Score in the diagnosis of EDS, and then went on to propose a new theory about the biological mechanisms underlying EDS. And as you’ll hear, she’s now researching her theory and believes that changes in cell mechanics could be driving the connective tissue issues in EDS…
Sabeeha: So, I have EDS myself. And I originally had some difficulty getting my diagnosis because I had a borderline presentation of hypermobility, and it wasn’t very clear whether or not I fulfilled one aspect of the hEDS criteria, which is the Beighton Score. So for people who don’t know, the Beighton Score is a clinical assessment that looks at how widespread your presentation of joint hypermobility is. And for me personally, I didn’t have much hypermobility in my hands and elbows, and that disproportionately affected my Beighton Score. So I ended up having to see an EDS specialist, and during that assessment, the doctor mentioned that I was hypermobile in pretty much every single joint outside of the Beighton Score and gave me a diagnosis on that basis.
So getting that diagnosis was really important because it helped me manage my condition. So I was able to go back to University and do my Masters degree in biomedical sciences, and that’s where my journey into EDS research really began. I was given an opportunity there to write a paper on any topic of my choice, and all I could think about was how awful that Beighton Score was at diagnosing patients! So I took the opportunity to research the history of the Beighton Score, and learn more about how something like this had come to be used in medicine, what the evidence was behind it, and why clinicians are so dependent on it. So that’s how I wrote my first publication on EDS, and now I’m a PhD student doing biomedical research into EDS.
Natasha: I can really relate to what you said about being hypermobile in a lot of other joints that aren’t in the Beighton Score. I once went to a doctor who was pulling at my hands and I’m not hypermobile in my fingers, its very very minor. And I also don’t have that thumb hypermobility, and thats supposed to be really common for people who don’t have EDS as well. And the doctor was like, “who diagnosed you?”, and I was like, “your boss”, and it was just really really frustrating because she then proceeded to the pull all my other joints and I was just like “my thumbs don’t make EDS”, and it was so frustrating because I am hypermobile in many other joints that aren’t part of the Beighton Score, and I think the Beighton Score is something that is talked about so much, but we don’t really understand, as you said, the history of it and how it came to be used. I’d love for you to explain in more detail what the Beighton Score actually is and how it works.
Sabeeha: So, the Beighton Score is a clinical tool, and it assesses patients for something called Generalised Joint Hypermobility or GJH. So this is a term we use to describe anyone that has a widespread presentation of joint hypermobility across their entire body. And the Beighton Score assesses for this by looking for hypermobility in 9 specific sites on your body. This includes both your thumbs, both your little fingers, both your elbows and knees, and lastly your spine. If you have hypermobility in 5 or more of those 9 joints, you’re considered to have a positive Beighton Score and GJH.
So for listeners that aren’t familiar with the field of hypermobility, the way that the Beighton Score has been used for diagnostic purposes is something that myself and other patients and researchers have been criticising, because its often used to rule out a diagnosis of hEDS. And the reason this is problematic is because the Beighton Score only looks at 9 joints, but there’s over 300 joints in the body! So it’s really possible that a patient might not score positively on the Beighton Score, but they could still have widespread hypermobility that ends up not being recognised by the clinician, and these patients are then denied a correct diagnosis of hEDS.
Natasha: Do you know where the Beighton Score comes from and how it came to be used as a major part of the diagnostic criteria for EDS?
Sabeeha: Yeah, so the Beighton Score originates from a paper published in the 70s, and its named after the author that conceived it, and that’s Professor Peter Beighton.
And in this paper, Beighton wanted to measure the prevalence of generalised joint hypermobility in a large African population and so he created the Beighton Score as a simple screening tool in order to take those measurements. They looked at over 1000 people, and they found that most adults had a score below 3. There were also some studies done in parallel that showed that people with connective tissue disorders like EDS, were more likely to score higher on the Beighton Score. So because the Beighton Score had now been tested in a really large population, and it had been shown to produce relatively consistent results, this really cemented the Beighton Score as an established screening method for generalised joint hypermobility, but this is in research settings.
When it now comes to diagnostic methods, I think the first thing people need to understand is that diagnostic methods have to be backed by research before they can be used clinically. And in this case, Beighton had undertaken a large study, tested the Beighton Score on this huge population, and established it as a screening tool. Other researchers studying hypermobility then saw Beightons work and decided to use that tool for their own research without ever really questioning its suitability. What ends up happening is that researchers were then almost exclusively choosing to use the Beighton Score for their research, just because it was the most familiar tool in the field. So the Beighton Score ends up being the only hypermobility screening tool with a sufficient body of evidence behind it. Then when it then comes to the time of developing evidence based diagnostic criteria, well, the only real option is to use the Beighton Score, because it’s the only one that’s backed up with sufficient research.
So at the end of all this, we end up in this situation where we’ve adopted a screening tool for diagnostic purposes, when it was never designed or intended for that use. And I think it’s a huge failure on the part of the both medical and research fields, that we’ve not really recognised this issue or tried to improve this situation. So the hope of my paper was to bring these issues to the forefront, because I know from my own personal experiences and hearing about the experiences of other patients like yourself, that this has been a huge barrier to diagnosing EDS. So that’s how it come to be and that why we’re still stuck with it.
Natasha: Could you talk us through your research for that paper, and what you discovered?
Sabeeha: So it first started by trying to track down the original source of the Beighton Score. And the crucial thing I was looking for in this source was what was the original justification was for selecting those 9 specific joints? And I thought it was really important to start with that point, because for a lot of clinicians and researchers, they assume that just because this is used a diagnostic tool, there might be some evidence-based justification for why those joints have been selected, and also why the Beighton Score has never been changed or adapted. And that’s just not the case. There was no scientific reasoning ever provided for making the Beighton Score the way it was. This tool is just presented in the way it is, and immediately used for research without any critical reflection, and so I thought it was really important to start by highlighting that point.
I then went on to do the scientific critique of the Beighton Score which should have been done originally. And my focus here was to being back attention to 1, its validity, which just means does the Beighton Score actually measure what it say it does, and 2, whether it was actually fit for diagnostic purposes.
In terms of validity, we just wanted to know if the Beighton Score actually measures GJH or Generalised Joint Hypermobility. So I dug out the definition of GJH and that’s defined as someone who has joint hypermobility in both upper and lower limbs (which is arms and legs), which also affects both major and minor joints, and also the spine.
And if we just look at the joints in the Beighton Score, they don’t meet that definition. So over half of the joints are in the upper limbs and that affects the score for GJH disproportionately. Andn it means that the score doesn’t sufficiently consider hypermobility in the lower half of your body. I also found that some of the worst affected joints in EDS are not included in the score, like the shoulders and hips.
But I thinkthe most significant finding from my research was the fact that the assessment for spinal hypermobility is completely invalid. So this is the part of the Beighton Score where you’re supposed to put your hands to the floor without bending your knees.
So firstly, this doesn’t even measure hypermobility in the spine, because its significantly influenced the stiffness of the muscles in your back and pelvic area and it’s also influenced by the length of your hamstrings. And secondly, there were multiple studies that show that most EDS patients can’t do this manouevere at all, because the joint instability is so severe in this area, that your back and spinal muscles overcompensate to try and stabilise the area. So for me, this was one of the more shocking findings, because I don’t think there is any other diagnostic criteria in existence that requires patients to have a sign or symptom that contradicts with the condition they’re being tested for. Its just completely absurd.
Natasha: I think one of the things that has really frustrated me over the years is seeing this hypermobile body as presented, by charities as well by the way, as a yoga super super bendy body. But for me, my Hypermobility really manifests…I have hypermobile joints, but my muscles have overcompensated to such an extent that I am a rock. And actually a huge amount of my pain comes from my muscle tightness. And that is being talked about more now, but I don’t know if this is tied into the way we think about the Beighton Score and the way we think about Hypermobility, but I’ve been quite frustrated about this over the years because I’m not a yoga bendy bendy person, but I do have EDS and I do have unstable joints. But I’m very tight!
Sabeeha: That’s one of the misconceptions of EDS that I hope will change, because EDS isn’t necesarily a Hypermobility disorder, it’s a connective tissue disorder. And Hypermobility is just one manifestation of the connective tissue disorder. But yeah that’s something we really need to sort out. What you’re describing is not a unique or lone experience, it’s actually very much indicitive of Hypermobility presentation, and it’s such a shame that presentation isn’t being recognised.
Natasha: And everything that you were saying about the way we understand the Beighton Score as a tool for diagnosis, that’s then going to feed down to the experiences that people have when they’re trying to get a diagnosis from their GP or they don’t have access to a Rheumatologist, and they only have access to the GP. The GP is the only person that can give them this diagnosis and they’re saying you can’t do these party tricks and you’re not super duper bendy so therefore how can you have EDS?
Sabeeha: Yeah and that was my experience as a patient too. I had one clinician that completely ignored the diagnostic criteria and just said that I couldn’t possibly have EDS because I wasn’t as bendy as a contortionist. And that’s misconception is obviously not true. I think that’s something that we need to work on, as an EDS field as a whole, to just challenge this misconception that EDS only affects gymnasts or contortionists, because the reality for most patients is that their hypermobility is masked by the muscles trying to stabilise the joint.
Natasha: That’s me! How was the response to your paper?
Sabeeha: Yeah so for the most part it was received really well. A lot of patients told me that they had taken this paper to their doctors and that they were able to advocate for their own diagnosis. I’ve also had clinicians tell me that they found it helpful to understand the limitations of the scoring system and the diagnostic criteria, and that it turn helped them to improve their diagnostic practices.
Because, I definitely think that before my paper, it was really difficult for clinicians to apply their own clinical judgment when it comes to diagnosing EDS, because they’ve all been told it’s super rare and that they shouldn’t expect to come across many EDS patients during their practise. But because of the amount of awareness that has been raised recently about EDS and about how much more common it is than we had initially believed, I think we’re definitely seeing this shift in clinical thinking where doctors are more open to considering EDS as a diagnosis. So to be able to have this paper available to these clinicans so that they can develop a scientific understanding of the evidence behind the Beighton Score, I’m hoping that will give them a lot more confidence to be able to make their own independent diagnostic considerations, and especially in cases where a patients hypermobility presentation might be a bit more borderline.
Natasha: One of the things you said earlier was that the Beighton Score was initially a research tool that was used by researchers and academics that was then retroactively fitted to become a diagnostic criteria. I was wondering if we could talk about the updates to the diagnostic criteria in 2017, and I’m not an expert in this, but from a lot of what I’ve read online, it seems like something quite similar has happened again. But I also know that there was literally just a meeting very recently in Italy where some of that might have changed. So if you could walk us through how the diagnostic criterias have changed or might be changing, that would be really helpful.
Sabeeha: So just speaking from my own personal perspective of the criteria – the main issue I have with the 2017 criteria is that they are still heavily reliant on the Beighton Score to assess patients for this feature of generalised joint hypermobility. The only change they made in that criteria is for people scoring one point below the cut-off, and these patients can basically get an extra point on the Beighton Score if they scored positively on a 5-point-questionnaire.
So the 5 point questionnaire just asks you 5 hypermobility-related questions and if you answer yes to 2 or more of those questions, you get a positive score and an extra point on the Beighton Score. The issue here is the way this questionnaire was made. Because again, it was a screening tool designed for research purposes and more specifically, it was designed for situations where a researcher isn’t able to perform the Beighton Score examination in person.
And the way they chose those questions was to compare the answers given by a group of people with and without a high Beighton Score, and then they picked 5 questions the hypermobile people were more likely to say yes to. So you end up producing a questionnaire that is basically a substitute for the Beighton Score, but its placed in the diagnostic criteria in addition to the Beighton Score itself. This means you are basically assessing patients twice via the Beighton Score, and I don’t think that really helps any of the limitations of the Beighton Score.
One of the things I’d love the medical field to accept is that someone can have hEDS without having joint hypermobility, because there are other indicators of an underlying connective tissue disorder, and these are things like the texture of skin, the thinness of the skin and elasticity. There’s also abnormal scarring and stretch marks. But with the current criteria, it doesn’t matter if you have a whole bunch of these other signs, because if you fail the Beighton Score, you’re immediately excluded from receiving a diagnosis of hEDS.
So there was the recent conference in Rome hosted by the EDS Society and they recently announced that they are reviewing the 2017 criteria. It was really great to hear at the EDS conference that the International Consortium have recognised these issues and they are aware that the Beighton Score has limitations, and I’m hoping that my paper played a part in that recognition. So they’ve not fully described what the changes will be, but there is that intention by the international consortium on EDS to improve the assessment for joint Hypermobility. So I have hope that it will change but the proof is in the pudding, let’s see what actually happens.
Natasha: And I don’t know if this will change when they update the diagnostic criteria again, but there seems to be…currently…there is a split between 2 diagnoses.
When I was diagnosed, I got diagnosed with EDS 3, which is now hEDS, and they also created a diagnosis of Hypermobility Spectrum Disorder, and a lot of patients feel like this cut off is very arbitrary, and even though it is said that it isn’t a lesser diagnosis, a lot of people with HSD or people with a diagnosis of HSD, they’re not able to get access as much care and support as people with a diagnosis of hEDS, and people with hEDS don’t tend to get much care and support. Does the use of the Beighton Score feed into that? And are you able to talk more about that split in diagnosis happened?
Sabeeha: So I think originally, the split happened because the international consortium on EDS wanted to create a criteria that would specifically identify those with a very specific genetic basis of hEDS, and would then make it simpler to research this population and easier to start identifying the underlying genetics. But at the same time, they needed a diagnostic label for the people who didn’t meet the stricter criteria. So this is why we have the HSDs in addition to hEDS. And you might be familiar with the scenario here, because once again the criteria has been designed for the purposes of advancing research, not in the best interest of accurately diagnosing the patient.
But, I think, had they communicated the reason for this split more clearly, then it wouldn’t have been too bad. Because clinicians would understand that we just have 2 categories of patients, one which are presenting with a specifically defined genetic disorder and the other, with an equivalent disorder, but the presentation didn’t meet the threshold for a specific genetic basis. And I think had the consortium also emphasised the point that these diagnostic labels weren’t intended to reflect the severity of the condition, or the underlying pathology, then it wouldn’t have fuelled this misconception of HSD being a lesser diagnosis.
So, I think where the consortium have gone seriously wrong, is that they’ve also tried to implement this concept of a spectrum into the diagnostic criteria. So the spectrum itself does have a logical basis to it because we know there are people with hypermobility who are relatively healthy and abled and don’t have many symptoms. And on the other end, you have people with a full-blown connective tissue disorder with multiple co-morbidities and experiencing serious levels of disability. And then you have the varying severities between those two extremes. But when they implemented the concept of a spectrum into the criteria, what they ended up communicating was that hEDS is the most severe presentation, and that the HSDs are less severe. But that’s not what the criteria were originally designed to reflect. So I think this has just enforced the message to the wider medical coommunity that the entire purpose of the criteria was to segregate patients based on severity, rather than splitting the patient cohort for the purposes of research and identifying the genetic basis.
The other thing they got seriously wrong in my opinion is that, when they created HSD, they didn’t even create a criteria for it. It’s literally just a label they’re giving to anyone that doesn’t meet the criteria for hEDS. I can’t help but feel like that was a reflection of how irrelevant they consider the patients that don’t meet their new hEDS criteria.
It’s like they just sorted out the hEDS criteria, completely forgot that they were supposed to make a criteria for HSD, still didn’t realise it was missing as they wrote up the publication. And it’s such a tragic oversight because its further fuelled this misconception that HSD is not “real”, and, that’s exactly what happened. Because after the 2017 criteria were released, a certain British paediatric organisation put out a position statement and they said that they don’t consider HSD as a recognised entity in children and adolescents. So in the UK, young people can’t access care and support unless they meet the new stricter hEDS criteria. And This should really be a wakeup call for the international consortium, because its pretty shocking that an organisation has rejected their criteria, or rather, lack of it.
Natasha: There’s also something about the name. There’s this conversation about ME vs Chronic Fatigue Syndrome. And I rememeber being genuinely quite pissed off when they renamed EDS 3 to hEDS because it seemed like such a limiting way of understanding, as you said earlier, a connective tissue disorder. And then only seeing through the lens of Hypermobility, nad as we’ve discussed Hypermobility can look so different for different people. And I think if I was a bendy bendy yoga EDS person, I might not feel the same kind of way. But because I am a very stiff stiff ouchy kind of person, there’s just something about the name in and of itself which really feeds into that.
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Natasha: One of the things I found really interesting about hEDS diagnoses in the UK, is that we don’t have to go and see a geneticist, whereas friends that I have in North America had to go and see a geneticist in order to get their diagnosis for hEDS. But they have no gene for it right now, I found that very confusing, like why are you going to see a geneticist if there is nothing you can look for in the first place.
And so I’m wondering, I know that there is this really big push to find “the hEDS gene”, but before we talk about that, is it possible to have a really strong diagnostic criteria without having “the EDS gene” and what would have to happen in order for that to change?
Sabeeha: I think the reason why it has been difficult to create a clinical criteria for HEDS is because there is no one single feature or characteristic that defines hEDS. hEDS is defined by the collective features and symptoms that together indicate an underlying connective tissue disorder, and that can end up being a very long and complex list. In addition to that, a lot of these features and symptoms can also be indicative of other conditions. So for example, chronic pain is also a symptom of fibromyalgia. Chronic fatigue also a symptoms of ME/CFS. Hypermobility is also seen in abled and healthy people
So I think the issue that the criteria needs to tackle is, how do we create criteria that is clear and specific enough for EDS, which then gives clinicians the confidence to tell a patient that yes, I can see that you are presenting with all the hallmarks of a connective tissue disorder and I feel confident diagnosing you with EDS. And at the same time, also having criteria that are inclusive of a variety of EDS presentations and severity.
So in order to achieve that, I think we need a lot more research to understand exactly how much variety there is in all the possible presentations of hEDS and how to best formulate a criteria for them.
Natasha: Something I always wondered about was, why an EDS charity would be responsible for creating the diagnostic criteria, because other charities, don’t usually do that…?
Sabeeha: So usually, it NICE that create evidenced based guidelines for the UK. NICE stands for National institute for Care and Excellence and they’re a public body in the UK, that create evidence based guidenlines, but I think their guidelines are adopted all around the world.
So my understanding of this has come from a conversation with a clinician, so I don’t know how accurate my information is. But my understanding is that NICE only create criteria and guidelines based on evidence, and apparently, there just isn’t enough published research on EDS available on for them in order to develop those evidence-based guidelines. So it then falls to the charities to fill in that gap.
So I think that’s a huge responsibility of the EDS field is to do the research and publish the evidence needed so that NICE can formulate the guidelines independently, because there are certain issues that can arise when charities take over these responsibilities.
And the main thing is that the charities also don’t have enough evidence to develop evidence-based guidelines either, so the doctors working on behalf of the charity, then have to include their own clinical experiences and expertise into the criteria. But the issue here is that those personal perspectives can also introduce some bias into their judgments. So for example, the main concern I have with this is that a lot of these clinicians are specialists and they will often only see the most severe and complicated cases of EDS, and that can then skew their understanding of what EDS looks like and how it presents, and that bias could then be unintentionally introduced into the criteria. So yeah, its not normal for a charity to be creating the criteria, but until we have enough research into EDS, I don’t think NICE can develop guidelines.
Natasha: Were there any other comments about the new criteria?
Sabeeha: So yeah, they did mention that they also want to create a criteria for HSD, which is, better late than never I guess. And there is also plans to create specific criteria for children. I assume this is because of the whole fiasco with that British paediatric organisation saying HSD doesn’t exist in children. So the consortium are aware of some of the issues that have come from the 2017 criteria and I just hope that they’re able to address is sufficiently.
Natasha: You spoke earlier about the future of EDS, and I’d love to discuss with you your current research and the future of where things are going, and importantly where it should be going, so for now, can you tell us what you’re currently working on because its very exciting.
Sabeeha: Of course! So I’m doing biomedical research into EDS. And we’ve got a more unique and novel perspective into what could possibly be going on in the main EDS subtypes if not all of them, and this is beyond the genetics side of things.
So we do know EDS involves something going wrong with collagen in the connective tissue, and that then makes the connective tissue weaker, and or more elastic. But currently as a field we don’t know how, and this is something we we’re interested in trying to find this out and better understand.
So there are other things in the connective tissue besides collagen. you also have the cells in the connective tissue, and these cells are called fibroblasts. So fibroblasts have structural filaments inside of them which is called the cytoskeleton, because it’s a bit similar to the skeleton that we have in our bodies. Fibroblasts also have these hooks on them called integrins. What they do is they use those integrin hooks to attach to the collagen fibres in their surroundings.
I did some reading during lockdown and I found some recent studies which showed that fibroblasts in general like to pull those collagen fibres closer together using those integrin hooks and the strength of their cytoskeleton and they do this to maintain the tightness of the connective tissue. So I wondered, is it possible that this process could be affected in EDS. So I did more reading and found some really old fibroblast studies in EDS, and they showed that the collagen abnormalities was in EDS would trigger the fibroblasts to change their integrin hooks, and it also changed their internal cytoskeleton. And this was something that was occurring in all the main EDS subtypes, so hEDS, classical EDS, and vascular EDS, and that is something pretty significant. So I connected these studies together and we put forward this hypothesis that the problems in the connective tissue in EDS is not necessarily because the collagen fibres are weaker. We think that the defective collagen in EDS trigger changes in the integrin hooks and the cytoskeleton of the fibroblasts, and this then means the fibroblasts can no longer do their job of maintaining the strength and the tightness of the connective tissue. So the work I’m doing now is called a proof of concept study, and were just trying to show that all these things link together and that the collagen in EDS actually does affect the biomechanical abilities of fibroblasts. So if we can prove this is the case, then that could lead to a potential diagnostic test for something called membrane-bound collagen. So this is a test that I’m still developing in the lab, and what we’re trying to do is measure the amount of collagen that fibroblasts have hooked onto. And if our theory is right, then this would means that EDS patients would have less collagen attached to the fibroblasts membranes. And this is something that could be measured via a skin biopsy test. But that’s only if our theory is correct and if we can get this test work.
If that does happen, then it would be really exciting, because we would have a biological marker for EDS, and we wouldn’t have to rely on very subjective clinical features like how bendy your joint are or how skin stretchy your skin. And its also very exciting because we wouldn’t need to know your genetic background for the purposes of diagnosis, because we would be analysing the connective tissue for the structural issues responsible for EDS, which means the biomarker might capture a wider variety if EDS patients. So that’s what were working on and hopefully we can get good results and move things forward.
Natasha: When it comes to talking about biological markers, and again, I suppose it comes back to that gene that people are looking for, whatever it is, where it’s kind of a more objective test rather than a criteria, are there challenges that come, not only with finding it, because obviously that’s been in the works for a really long time, but I know the last time we spoke, you mentioned that there are concerns about what happens when something is found, and then that’s the only thing that’s then focused on and what impact that could have on patients. Could you talk a little bit about that?
Sabeeha: Yes, so that’s a really good point. One of the concerns about discovering any biological marker is the assumption that all EDS patients look like this, and if that is rushed into clinical practice, it might then be used to exclude patients from a diagnosis, before there’s any evidence that a biomarker is really that diagnostically powerful. And I think that is a really important responsibility of researchers in this field to explicitly state and clarify what their biomarkers can and can’t do.
So the way biological markers should be introduced in the diagnosis of EDS, is as an adjunct to the clinical criteria. So a doctor would examine you for the signs and symptoms of EDS like they currently do, and, particularly in cases where that presentation is borderline negative, a test for the biomarker can be ordered, and that test is positive, then a doctor can confirm the diagnosis of EDS in the patient. And if it’s negative, the doctor should still be able to use the clinical criteria to diagnose you. So that’s how it should be done, but then this whole thing comes back to the discussion about how do we make these clinical criteria inclusive and make sure that all EDS patients get their diagnosis.
Natasha: And what role does the current state of research and the current state of the diagnostic criteria play into the care that people are able to receive? Because I suppose we’re talking a lot about people being able to get a diagnosis in the first place, but then how does that translate further to living a life with EDS?
Sabeeha: Getting a diagnosis is important because this is how patients access the care and support they need. Particularly when it comes to physiotherapy, because you might need a diagnosis of hEDS to access that. And getting a diagnosis also translates into financial government support or support from your employer to enable you to keep working. Getting a diagnosis is not just about getting a label, it’s about being able to access the care and support you need to live fulfilling social and family life. Also it’s so important just to validate and patients experiences and difficulties with their symptoms. Adn I think that in and of itself can bring a lot of peace for patients. I know that’s something that I experienced. Just feeling like I have an understanding that my body does not work the way it normally does, instead of constantly beating myself up about why I can’t do something or why I can’t be like other people. So getting a diagnosis of hEDS or HSD is just super important.
Natasha: I always really love talking to you about all of this because I find all of this so fascinating, but I’m very aware we’ve been talking for quite a while already! Before we wrap it up, I’d be curious whether you have a message for patients. Because I was diagnosed in 2009 I think it was, I can’t do the maths, quite a while ago now. And I’d say it’s a much better time to be an EDS patient than it was in 2009 because we know a lot more and the internet is a very different place and there’s a lot more access to support. Even peer support and resources from doctors or people like Jeannie Di Bon who are putting resources online that can help patients find ways to live with and manage their conditions and that was something that I definitely didn’t have access to back then.
But saying that there are so many patients who are still having a really difficult time – whether that’s accessing a diagnosis, or getting the care that they need. And I’d love to hear if you have a message for them about the future of where EDS research is going – what can we look forward to, and is there anything you’d like to share?
Sabeeha: I think this is a really exciting time for EDS research, because there’s a lot of variety in the type of work being done. There’s a lot of genetic work being done to find the underlying genetics of hEDS, so there the HEDGE study by the EDS Society, and there’s also the Norris lab who have identified a candidate gene for hEDS. My work has also identified a potential cellular mechanism involved in the connective tissue in EDS.
So this research is only going to expand from here, because scientific findings often have a domino effect, and they almost always lead to more questions, which other researchers will want to investigate. I think the other exciting things about my work, is that all my research is being done with collaborators and funders who have never worked with EDS before. So I’ve been able to bring together all these fresh minds and big brains to tackle the mystery that is EDS, and I think that’s something this research field really needed because there was until recently, it did feel like until recently the field had stalled and researchers were struggling to understand how to further our understanding of the underlying biological mechanisms in EDS. So I don’t think EDS is going to be a mystery condition for very much longer.
There’s also a lot of patient researchers working at the forefront of a lot of the advancements in this field. And this is huge because as patient-researchers, we understand what patients are going through, what they need, and how important it is to frame our findings so that they actually have a net positive effect for the patient community. So I definitely think there will also be more meaningful advancements in our understanding of EDS and this will continue over the next few years. And as patient researchers we definitely have you in mind, we’ll be advocating for you as much as possible, and I really hope we can bring about the changes you all need and deserve.
Natasha: I couldn’t think of a nicer and more hopeful way to end this episode. Whilst I know, and trust me I know, how difficult it can be to live with EDS, I feel so heartened by the work, care and dedication that people in this field are showing – and what that means for patients in the future.
A huge thank you to Sabeeha for joining me on the podcast. If you’re interested in following or learning more about her research into EDS, I’ll link some resources in the episode notes.
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Aaand that’s all from me. Thanks so much for joining me in The Rest Room. Ta ta for now!
Links
- Find Sabeeha on Twitter.
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- Produced by Philly Guillou at OG Podcasts.
- Episode art by Lucy Dove.
- Introductory music by Amit Rai.