Jessica: You're listening to the Rare Disease Connection, a production of Aspect Health and raredisease.com. There are roughly 7000 rare diseases, and estimates are that a rare disease affects nearly one in 10 Americans and hundreds of millions of people worldwide. The genetic disorder we cover in this episode is actually relatively common, Ehlers-Danlos syndrome. When you hear numbers like that, it's clear that rare diseases aren't so rare and it's impossible to know how many rare diseases go undiagnosed. Jessica: If you or someone you love is affected by a rare disease, you likely have more questions than answers. That's why we're here. Rare Disease Connection and our additional resources on raredisease.com and yourdna.com brings together the people whose expertise can explain what you're facing from diagnosis to prognosis to treatment options, all the way to questions like who do I talk to? Where are the people who have been through this before? You'll find those answers here from doctors, geneticists, academics, genetic counselors, patient organizations, other patients and their families, all within your reach. We're here to connect you. This is Rare Disease Connection. Jessica: Hi, everyone. This is Jessica, a genetic counselor and co-host of Rare Disease Connection. I'm excited to bring you some recent conversations we've had with experts from around the world about a very specific rare genetic disorder, Ehlers-Danlos syndrome or EDS. Before you listen, we know that hearing from these experts is only the beginning for you. That's why we've taken the information here and added additional resources, explanations, links and references for you in a downloadable guide on EDS. You can get your free copy of that guide by going to raredisease.com\eds. That's raredisease.com\eds. Head there for so much more to help you in your journey in understanding this disorder. It will certainly help support you in your ongoing plan of action. Jessica: The experts are here, so let's talk about EDS. All of our guests today have been part of their hospitals' connective tissue disorder specialty clinic. Our first conversation is with Kelly Bontempo. Kelly is a Licensed Board Certified Genetic Counselor at Advocate Health Systems and a core faculty member at Northwestern University's Graduate Program in Genetic Counseling. Kelly has a special interest in connective tissue disorders and worked in the adult and pediatric connective tissue disorder clinic with Dr. Bradley Tinkle. Kelly is widely known for her expertise in EDS and we're excited to hear from her today. Jessica: Okay, thanks so much, Kelly, for talking to us today. Kelly: Hi, thanks for having me. Jessica: So I wanted to first just ask you from your perspective as a genetic counselor what Ehlers-Danlos syndrome is. Kelly: All right. So I would say the best way to classify Ehlers-Danlos syndrome is to really call it Ehlers-Danlos syndromes. So it is really a group of connective tissue disorders that are genetic and not acquired when we think about things like autoimmune conditions, and they really vary in how each one affects the body and each of their genetic cause. So as a connective tissue disorder, this relates to our connective tissue, which is that component in our body that provides the strength and flexibility to the structures, so things like our bones or ligaments, our muscles and our blood vessels. Kelly: The symptoms that seem to really tie this group together across each subtype tends to be things related to our joints and our skin, so we think about what we call joint hypermobility or more flexibility to our joints as well as different skin features, and that can be things like skin that stretches farther than you would maybe expect it to stretch off the body, fragility, bruising on the skin, a doughy texture to our skin and sometimes unusual scarring, but there is a lot of overlap in sort of the major features of each of those, so a difference in what is the like predominating skin feature in different types. Kelly: So when we think about the common feature of hypermobility, I think it's important to just note that not everyone who's hypermobile or more flexible actually has Ehlers-Danlos syndrome. It really is individuals who have another medical issue or complication or something that's affecting their life secondary to that flexibility, and that can be related to just pain, joint instability and other things. Kelly: At this point, there's 13 different subtypes of EDS. There is a lot of overlap in the symptoms of each type, and with the types for 12 out of the 13, we have genetic testing that can be more confirmatory to try to sort through what the actual diagnosis and try to confirm what that diagnosis is. So as a whole with these connective tissue disorders, people often wonder, are they all life-threatening? And so we sort of say, some are life-threatening, which can affect lifespan, and many of the other ones are just more life altering. Jessica: And what are the most common types of EDS? Kelly: Yeah. So the most common types of the 13, a lot of that kind of depends sometimes on inheritance. So the most common types that come up in the clinic setting are always usually the hypermobile type because there seems to be just a strong prevalence of hypermobility and it's also a dominantly inherited condition, so we do see it running through families. We also get a lot of patients more often for things like the classical type of Ehlers-Danlos syndrome, and also people with a lot of concern for the vascular type of Ehlers-Danlos. There are, obviously with the 13 subtypes, many other types that they tend to be more rare and have different inheritance, and those standout as sometimes much more unique in the way they present, so we see them usually actually less often than those other ones. Jessica: And then when you talk about the hypermobile type, what would you say the most common reason is that somebody would come to your clinic to be seen for that or to rule out that they have that condition? Kelly: Yeah. So if somebody is concerned, thinking about hypermobile type, the most often time that we get those referrals tends to be more of our adolescents. What's interesting about the hypermobile form in Ehlers-Danlos is that it has a gender influence because of our hormones. So we tend to see females more significantly affected than males. So the most common person we see, which is about 90% to 95% of who presents to clinic are our adolescent females, because as they get closer to puberty, they do start to increase in their flexibility, which makes them even more flexible than they already started out to be. Kelly: So at that point, the most often things we see are joints that are more loose than they should be, they may be slipping out of place, completely dislocating, and also starting to experience some different aches and pains or joint pains which may have started earlier, but oftentimes are chalked up to being growing pains when they're a little bit younger. And then the other predominant feature we see is orthostatic intolerance, which really means that these patients are experiencing issues with how their blood is really returned through their body due to how lax their internal vessels are, and they may feel dizzy, they may be more likely to feel as if they're going to faint, and some of them actually do faint. So I would say that's the most often time that we are seeing these patients. Kelly: In general, children tend to be more flexible. We know especially our babies are very flexible when they're born, and as they get older, children do tend to tighten up. In a few studies, it's been about 5% of children who still sort of remain pretty hypermobile. So for most of our patients, we don't recommend them being evaluated for this condition until they're closer to five or six years of age, unless their flexibility is significantly outside of the normal range for what a pediatrician would expect to see. Jessica: And what road has that patient typically been on by the time they get to see you? Kelly: Great question. So with this condition, it actually is a lot more common than we think because obviously a lot more people are flexible and have manifestations related to that. So a lot of our patients have gone to their primary care doctors and have either not really gotten a referral because when they maybe bring up like they might think this is what's going on, or they've heard of this. Kelly: Ehlers-Danlos in general is classified as a rare condition, and so sometimes doctors don't always spend a lot of time learning a lot about what we consider a rare condition because they're not sure if they're going to really see more than one or two in their practice, so sometimes they don't make it very far and they kind of self refer through looking through the internet, or other times they might end up first at a rheumatologist ruling out those more acquired types of connective tissue disorders, running different laboratory tests to make sure nothing else is out of the ordinary, and some of them end up going through physical therapy to try to figure out if they can strengthen those joints and deal with chronic pain. But those are probably the most common other physicians we see before they get to genetics or another specialist to my follow these patients. Jessica: And once they get to you, how do you determine if they truly have Ehlers-Danlos syndrome hypermobility type? Kelly: Yeah. So for a hypermobile type, this is the one type where we do not have a genetic etiology or a genetic Cause that's really truly been identified, and there are some theories as to why that is. So this becomes a diagnosis of exclusion. So of all the types, it sometimes is the trickiest one because you really have to ask all the questions and think about what other symptoms present in those other types to make sure that we don't have a strong suspicion for those, because we don't have a genetic test to confirm that this patient has it or not. So we use different tools to assess the hypermobility, and then we also use an established criteria that figures out how people get classified. Kelly: So for the patients who we really think have this condition, we first do a Beighton score, which is something that's taken on a nine-point scale, and we're looking for areas of flexibility. So for example, things that we're asking about is looking at some of these elbows and their knees to see if instead of sort of having that nice straight line down, that they extend beyond 10 degrees, also if people are able to bend over and palm the floor with straight legs. So that's probably the most significant association with the ability to be more flexible. We look at if the thumb can touch the forearm, and if the fifth finger, the pinky finger can go beyond a 90-degree angle. Kelly: So that gives us a score out of nine, and depending on how old somebody is, they fall into a different category if that makes them hypermobile or not. So for our children who are haven't gone through puberty yet, we're looking for something over a six, so six out of nine or higher. For men and women who are not quite to the age of 50, who have gone through puberty, we're looking for something over five. And then if they are over 50, we're looking for something greater than four. And using our new criteria that has come out in 2017, we can actually add points to that using historical questions, so asking people if they've ever been able to do those things because we know as we get older, we do tighten up generally over time. And so some people lose the ability to perform some of that assessment because they've tightened up over time. Kelly: So using that criteria, we can at least figure out if people meet that first criterion, which is generalized joint hypermobility. Beyond that, once we have a full physical exam and an extensive medical and family history, we're trying to fill in the rest of that information. So with our new criteria from 2017, we have to meet two or more of kind of a large group of features that are all signs or symptoms that could also go along with this condition. So for example, things like unusually softer, velvety skin, which is kind of subjective, but when you really feel somebody who has that velvety, doughy skin, you can pretty much tell it's very unique, but I would say a lot of patients who don't necessarily recognize that sometimes the skin can be more mildly hyperextensible or pull off the body a little bit easier, things like unexplained stretch marks, history of abdominal hernias, different unusual scarring they might have. So there's kind of a variety of different things we're asking about and looking forward to see if they can meet that number. Kelly: Family history also plays a role in that, so anybody with a positive family history, so one or more first degree relative that has met that criteria or been diagnosed, because that puts our patient at about a 50% risk. So that, obviously with their history and family history together, make it more likely. Kelly: And then the other features we're asking about are things like recurrent pain that's been in two or more limbs for at least a few months, about three, or chronic widespread pain for more than three months, or the joint dislocations and joint instability without trauma. So we have patients who come in who are maybe a little more flexible but they fell off to climbing a tree and dislocated their elbow or shoulder. That's a traumatic dislocation that we could explain for probably anybody, whereas these patients aren't doing very much and joints are sort of slipping and falling as they would not normally do that otherwise. Jessica: And talking about numbers, how common is Ehlers-Danlos syndrome hypermobility type? Kelly: So for the hypermobile type, it is our most prevalent type, and it's been really hard to come up with a true number for what that looks like because a lot of the prevalence really depends on the criteria that's set in how individuals are grouped using those criteria. So like I mentioned, the criteria was redone in 2012... Oh, sorry, 2017. And before that, it had been off the criteria that was developed in basically 1986. So we're talking about like a 20-year difference in between how that got reclassified. Kelly: And so we can look at those older studies of how people were classified versus the newer studies in how people are classified, and that number comes up around one in 5,000 individuals. And this affects males and females equally, albeit we do have that gender influence, and we see this equally within all racial groups and ethnic backgrounds. But there is data that says that number actually could be lower than that, so one in 2,500 even. And we know generally when we look across certain areas, analysts and athletes, 13% of them tend to be more flexible, and there are advantages to that. There's a certain percentage of children who are more flexible, so it's sort of sorting through who's flexible, and then who has flexibility with these secondary manifestations. So we probably put that number between one and 2,500 and one in 5,000. Jessica: And that's obviously much more common than we often think of with rare disease. So it's amazing to hear how many people out there probably do have this condition and maybe have just not been able to put a name to it. Kelly: Exactly. So one of the interesting things we see a lot when we think about hypermobility is contortionists and people who have these sort of extreme flexibilities. But when you think about it, a lot of those people, even who are walking around who are more flexible, may have an actual serious medical issue related to this that is affecting their life, and it's not just that they can do what we call the party tricks, but they have manifestations of this that do affect their daily life. Jessica: And what is the long term outcome for people who have EDS hypermobile type? Kelly: So for the hypermobile type, I think mostly the prognosis really depends on the individual in many cases. We do know that with any medical condition, the long term effects have a physical, an emotional, and a psychological component to them. Some individuals, depending on how many symptoms along that continuum they have, it is harder for them versus others who aren't dealing with as many things on a day to day basis. So some people don't have a lot of chronic pain while other people do experience significant chronic pain. And I would say, that probably affects most people's lives most significantly, in my opinion, but I think our patients who generally try to keep the most positive outlook that they can, even though things can be thrown at them and become very difficult, I think they generally tend to almost do a little bit better because they're seeking the information. People that are doing the things that they should really be doing that are recommended to the best that they're able to do them, I think they do well. Kelly: So an example of that would be our patients who... Physical therapy is the mainstay treatment for this condition, so the right physical therapy, not just any physical therapy, and with that becomes the request that patients go home and do a home exercise program, and that's something that people need to incorporate for the most part into everyday life. So the ability to make time for that no matter what comes. We know it's hard every day to be able to do these things, but people who are really taking that advice seriously, in my experience, have done the best with getting to a better place. Kelly: So I think prognosis depends on people's want to take that advice and do the best they can to improve things. There are always setbacks, there are always improvements, but there is such a big continuum of what this condition can involve that some people do well and some people really struggle over time. Jessica: And then switching gears a little bit to the classical type, can you help us to understand specifically what is different with the skin in this condition? Kelly: Absolutely. So with a classical type of EDS, the skin is much more unique than we see in the hypermobile type. In my experience, the most oftentime we see these patients present is when they're actually really young because our toddlers who are running around, learning how to walk and exploring their environment are usually dragging their legs on the floor or running into things or bumping their heads into things, and the amount of bruising is pretty significant so much so that their legs will appear very bruised, very scarred. And that constant bruising and healing, they almost have like a yellow tone to them, and on top of that, the skin does tear, and so these kids often need to establish with a dermatologist, a plastic surgeon to appropriately repair that scarring, especially in the face, try to preserve what they can. So a lot of the time we are seeing patients referred from dermatology or plastics because of skin tearing that just seems outside of the typical. Kelly: So again, if somebody has a significant fall and they cut themselves, it makes more sense where if a child is bumping into a TV console and they are cutting their forehead open after that, that might seem a little bit more unusual, and especially when these doctors are going in and trying to repair that hair, so the skin just feels more friable, it doesn't hold quite as well, they usually are using different techniques to get that to stay together. Jessica: And with the classical type, is there anything that we should be thinking about that is life-threatening? Kelly: For these patients, it tends not to be as life-threatening of a condition within the reason of understanding. If your skin tears very easily, you want to not put yourself in situations where you could tear your skin open more significantly and increase risk of bleeding, infection and other things. So these patients we do tend to recommend they avoid activities that would make them more prone to have those sorts of accidents and cause these things to happen. But when we think about Ehlers-Danlos, a lot of people have questions about the heart and the vessels. And in this type, we don't seem to have any of those more significant internal issues that we can see in some other types. It's not uncommon that patients will have potentially a slight enlargement in the size of the aorta, but it tends not to be progressive. And so baseline screening to make sure the heart looks good even if it is slightly enlarged, it's not advised to do that. It's usually something that is recommended. But over time after following these patients, they really don't tend to progress to something that usually becomes an aneurysm or a dissection. Jessica: And how common is EDS classical type? Kelly: Oh, good question. So I would say our number probably puts that somewhere between one in 20,000 to one in 40,000 individuals. So that kind of puts us more into the rare condition category as opposed to the hypermobile EDS. Jessica: And how is that diagnosed? Kelly: So with classic EDS, we do have a genetic test for it, but for the most part, the genetic test isn't always needed. Most of these patients can easily meet a clinical diagnosis just based on how unique the skin is, but it is recommended now that there is a confirmatory genetic test so we can test patients for mutations in Type V collagen. And in addition to that, there is a more rare form, it's called classic-like EDS with propensity for arterial rupture, which is a mouthful, but it presents exteriorly much like classic EDS, but there are internal manifestations that are life-threatening, and that's due to mutations in Type I collagen. So we have a couple different genes related to collagen that we can test for to confirm this diagnosis. And with genetic testing, we know that it is a very powerful tool, but it is limited. So in this condition, about 95% of the time, we can find that genetic change in someone to confirm it. But if they do still meet that clinical criteria, we may still classify them that way for the time being if we can't find that genetic change. Jessica: Moving gears a little further down the spectrum, I guess, there is the type called vascular EDS that you've touched on. Can you tell us what makes that one different? Kelly: Yeah. So vascular EDS is probably the one that is the most scary to people who read about Ehlers-Danlos syndrome in that we consider this a very life-threatening condition. It is not always as outwardly apparent that someone has this, because a lot of the issues that these patients face are more internal. So the things that we typically have patients presenting with for the first time are things like a rupture of an intestine, a vessel that has dissected in the heart or in some of the other veins throughout the body and arteries through the body. So a lot of our patients, if there isn't a family history where we're already kind of worried about this or paying attention or testing them for it, patients who have this and they're the first patient in their family are usually presenting because of one of these very serious dissections or ruptures. Kelly: We also can see this occur with women who have children because the uterus is actually also fragile. And so when women with this condition become pregnant, there is a higher mortality rate because of the chance that the uterus can rupture. And so that's something very serious that we talk about with patients who are female and have this condition. Jessica: And with Ehlers-Danlos syndrome vascular type, what is typically the life expectancy? Kelly: Yeah. So life expectancy is shortened. I would say, I don't know if there's really an exact age, but we do know that major complications occur somewhere between 12% and 24% of people by the age of 20, where they've had one of these, and then we oftentimes do diagnose this condition in individuals who are under the age of 40. So depending on those types of ruptures, there are patients who pass away very young. If it's unexpected and they cannot catch it and repair it soon enough or the repair is unsuccessful, I think life expectancy is shortened, but there are types of EDS where that life expectancy does vary. So depending on the type of genetic change that is present, individuals may experience things earlier in life versus some who may make it to a much older age before there are manifestations of this condition, so maybe into the 50s or 60s. Jessica: And there is genetic testing for this, correct? Kelly: There is, and the detection rate for this is very high. So individuals who are suspected to have this condition who have a genetic test, about 90% to 99% of the time, we can find that genetic change to sort of prove that this is really what it is, as opposed to conditions that could look alike to this because there are other conditions even outside of EDS where there are concerns about the internal organs and their ability to dissect or rupture. So this is a very powerful tool, in this case, to be able to prove this, but there still is that very small 1% to 2% chance that we won't find it, and then we have to wonder what it is, but we may not change the recommendations or the screening if someone is very suspected or suspicious of having this condition or something similar. We're probably still going to follow that patient as if they have this disorder without being able to give it that name. Jessica: So it sounds like with all the overlap and the many different types, which would be hard for even somebody who studied genetics for a long time to keep track of, it sounds like the genetic testing is a really powerful tool. Is this something that somebody would be able to get information on if they did a test like 23andMe? Kelly: Great question. So 23andMe is a question we get a lot of questions about in genetics because it is so available. And historically, there has been a lot of different genes that they look at on this test, but the key is that they look at them in a different way. So what these tests do is they evaluate what we call SNPs or single nucleotide polymorphisms, and the difference with our SNPs, compared to what we do on a clinical test in a genetics clinic, is that these SNPs are things that can increase your chance of a disease or your risk for a condition, but actually don't cause the condition or disease. So it's not a straight Mendelian condition like we think about in genetics. Kelly: So 23andMe has put collagen genes on there, and specifically the collagen related to vascular EDS. And so that had created a lot of fear that when people were doing 23andMe, they would come up with these Type III collagen markers saying high risk for vascular and people would interpret that as, "I have vascular EDS," and so that did create a lot of problems and can be very scary. So we would not advise using 23andMe for any form of Ehlers-Danlos as well as any other genetic condition. If there is a significant worry personally or for a family member or something in your family history, it's better to go straight to a genetics professional so you can really understand what the right test is. 23andMe can be fun and we call it for entertainment only. So it's not that you can't do it, but if there is a significant medical concern, patients really need to see a genetic professional to be able to know what's appropriate. Jessica: That's really helpful. What about if you have a family member who you think might have Ehlers-Danlos syndrome? What are ways that you can support them through this process? Kelly: As far as if there's someone you think might have it, helping them to figure out how they need to talk maybe to their doctor about it. So, like I mentioned before that a lot of patients have symptoms, and so they're wondering if this is what they have and they do a lot of research and they'll find maybe that like a lot of patients of mine have said, "I feel like I found this website and somebody wrote my autobiography because this is everything that's going on in my life." And so there trying to figure out how to get their physician to understand that, and so helping to figure out ways to bring this up to their doctor and figure out the next step or course of action. Kelly: Physicians don't love it when patients show up and say, "This is what I need. This is what I think I have." So figuring out ways to gently lead the horse to water but not make it drink so , "This is the information I found. This is what I think sounds like me. What kind of specialist do you think I should see? Could you help me get to one of those specialists?" So I think with this condition, it does take a while before someone gets to a genetic expert who can really diagnose this and follows this, so helping them kind of figure out how can we get there as quickly as possible. There are a lot of support groups out there, the Ehlers-Danlos Society. There is the UK group as well, other support groups. There is the Inspire magazine, an online community. There is a lot of information out there. Kelly: So I think listening and hearing them out is the most important thing. A lot of our patients have been told by other physicians, family members, just friends, "You look healthy, I don't understand," and it's hard for them to explain they may have all these unusual things going on with their body, that their chronic pain is affecting the way they sleep, the way they feel, the way they think, that they might become more anxious or depressed because of this. So I think just being there to listen is the most important thing. And even if you find a physician to help you that doesn't know that much about the condition, but you want to really find someone who's willing to learn and wants to learn and is going to have the good bedside manner to sit and listen to you and trust and believe you and just try to help you get what you need. Jessica: That's really, really helpful information, Kelly. Is there anything else that you think we should talk about or know about EDS before we let you go? Kelly: I would probably say the other very common question I get across the board is, what kind of supplements could I potentially take to make my body feel better? And when we treat these patients, there are obviously different prescribed medications and therapies that are recommended, and a lot of patients wonder about things like collagen supplements. And unfortunately, these are things that won't help, and so we try to tell our patients don't spend your resources, your money to buy these things because they don't make a difference, and it's really just because of the biochemical process of how we use our collagen. So when we ingest collagen, our body's going to break it down and reassemble it, and it doesn't directly go into your cells. And since EDS in this condition we have trouble using collagen and making it correctly, giving it more of that starting material isn't going to help it to go where it needs to go. Kelly: So there are definitely things where people say like, "I take it and I feel better," and we don't know if that's just placebo or anything else, but from the way it works in the body, it doesn't make sense that it would actually make a difference. So we'd rather people use their resources on getting therapy, especially the physical therapy, and seeing other specialists that might be able to offer more of a positive outcome. Jessica: Thanks to Kelly. Jan Delariman is a senior occupational therapist with experience working with patients with orthopedic injuries and more chronic conditions such as EDS. We're here with our next expert, and I'm so excited to be able to talk to an occupational therapist who has experienced with Ehlers-Danlos syndrome. I'll go ahead and let Jan introduce himself. Jan D.: Hello, my name is Jan Delariman. I'm an occupational therapist in the Chicagoland area and I work in a large trauma hospital in an outpatient rehab facility. So what that means is, I primarily treat patients who come to us for orthopedic injuries. They have any injury from their hand to their shoulder, whether it's a repetitive strain injury like carpal tunnel or rheumatoid arthritis or osteoarthritis or they've had broken bones and fractures and tendon lacerations, but oftentimes we will also see somebody with chronic conditions like connective tissue disorders like Ehlers-Danlos. And as occupational therapists, we help patients with being able to do their daily activities better regarding their upper extremity and we work with physical therapy. Usually in our clinic, we have occupational therapist and physical therapist and we oftentimes will treat the same patients for the same condition, but we have very different goals. Jessica: So sometimes I'm really surprised at how many different hats an occupational therapists wears and it almost seems like anybody could benefit from occupational therapy. But when we think about the significant pain and hypermobility issues that somebody with Ehlers-Danlos syndrome can have, what are the goals of someone who is going to see an occupational therapist with EDS? Jan D.: Well, that can vary with patient to patient because as anybody with Ehlers-Danlos knows, their symptoms can be very different than the next person next to them who has the same condition. So as a therapist, we have to kind of figure out each person as a puzzle. Everyone is very unique, even though they say they share the same condition, and we have to figure out and prioritize with the patient what they really want to focus on that day. Each day may be different than the day before, each minute might be different for each of those patients, their pain might be somewhere else, what they're dealing with that day may be different than it was the day prior. Jan D.: So we really have to, as an occupational therapist, teach patients how to manage these symptoms for the rest of their life. So we can't just focus on where the pain is at that moment, but we also have to focus on teaching patients how when they have pain, where they have pain, not to get so bogged down on looking at the pain and treating that by itself because it's their whole body is reacting to something. And so as an occupational therapist, we have to investigate what's important at that moment and prioritize with them and kind of work with them in figuring out what the best approach is. Jessica: So when somebody comes to an occupational therapist, what can they expect if they have Ehlers-Danlos syndrome? Jan D.: So normally, as an occupational therapist working with EDS patients or patients that have connective tissue disorders, I really like to establish confidence with my patients, make sure that they know that they're coming to a therapist who has experience with these conditions. And if you're a therapist that doesn't have that experience, just instill confidence in your patients that you're still an occupational therapist and your job is to help your patients as best as you can. And if you don't feel comfortable treating someone with these conditions, then send them to someone who does and be a case manager, help them find resources that are available, or work with therapists that may not be in your area and call them and see what you can do in the meantime until those patients can reach out to someone who is available and has the experience to work with them. Jan D.: So typically, in our evaluation, we tend to establish a baseline and I need to establish where their strength is at that moment. So I will measure their hand strength, their strength in their upper extremity, their elbows, their wrists and the shoulders, establish where their pain is, usually the best part of their day or the worst part of their day, and kind of discuss what causes their pain to be worse and what they can do to make your pain better. Jessica: What types of treatments are most commonly helpful for patients with Ehlers-Danlos syndrome? Jan D.: Typically, I try to focus on making my patients as active as possible. Now, that doesn't mean I want them to run outside or we'll go to the gym and exercise and lift weights, but for them, the exercises are going to be pretty simple, pretty basic and easy. However, however basic it might be, it might be difficult for them, so I have to adjust those exercises according to what they're capable of. So some of those exercises might be involving strengthening their shoulders, strengthening their core, and strengthening their hands, and teaching them how to also modify their activities of daily living. So for instance, if they spend a lot of time on the computer, how can we adjust their workstation so that their body is at the best mechanical advantage? How do we improve their posture? And if that involves having to strengthen their core so that they can maintain their posture better, that's what we'll focus on. If it means that we have to adjust their table height or their chair height, and that's what we'll work on. Jan D.: Sometimes we will fabricate splints or orthosis, so sometimes in the clinic we can make custom-made splints for our patients, and they are what's called thermal plastic material. They're plastic material that we can heat in hot water and mold specifically to the shape of our patients' hands or fingers, make sure that their stability in their wrists or their hands whenever they're writing or using the mouse or typing. Splints can vary. Sometimes we might have to measure them for different types of ones that are called silver ring splints. So silver ring splints are different splints that you can order online that certain therapists are comfortable being able to measure. We have to learn how to measure it, and we have to order it, and patients have to order it themselves and we fit patients for that. Jan D.: So silver ring splints are much more aesthetically pleasing looking because they're silver. They're not the thermal plastic splints that we make that look more orthotic, and they're also less cumbersome to work with. So it really depends on the patient what will do for them at their treatment, but oftentimes we will teach patients how to manage their pain and make sure that they really assess their pain and they assess their level of comfort that day. Jessica: What age do patients with Ehlers-Danlos syndrome need or require these splints? Jan D.: In our clinic, we tend to see orthopedic patients of various ages anywhere from... I've had patients that were one and a half to the elderly. As far as Ehlers-Danlos specifically, I tend to see a lot of my patients normally around 13, and when their symptoms start to exacerbate after they're going through a growth spurt or PMS and going through puberty, that's normally when my patients will go to their doctors and really ask for help. But oftentimes, symptoms can arise before that and sometimes some of our physicians may be able to diagnose somebody if their family members have it. And so I've had patients who are 50 years of age and have a younger sibling that has symptoms that are similar. And so the doctor that they're working with can oftentimes send those patients ahead of time instead of waiting for symptoms to arise and just kind of teach the family what to do in case things happen. Jessica: What other tools are there that people can take to their schools if they're having issues? Jan D.: To the schools themselves, it's very difficult. I find it varies depending on the district and depending on the resources that are available. I feel like it's a lot of communication, especially for the parents, to maintain and educate the school themselves. Whether it's the social worker or the psychologist at the school, it depends on the school's resources, and it's a tough job for parents to have to do that frequently. I, as an occupational therapist, have not had the opportunity to have to work with schools directly, but if parents or patients need documentation for their school, we can offer that while working with physicians themselves. So oftentimes, they will need a physician or a doctor to help document those things in the process to help any accommodations they may need at their school. Jessica: Is there anything that can make the condition worse that you would say, absolutely don't do these things? Jan D.: The phrase no pain, no gain, that really doesn't apply to a lot of our connective tissue or EDS patients. When they experience pain, it's normally a bad thing. It's normally your body's way of alerting you that something is wrong. So when we design exercises or activities for our patients, we want to make sure that the kind of pain that they're feeling is a good pain, it's a good muscular fatigue, muscular soreness, it's testing your muscles and enhancing your strength and enhancing your endurance. You should not feel pain in your joints. So we will discourage our patients to normally do the bendy tricks that they'll often do at parties where, "Look, I can bend my elbow back this far, or look how far I can touch my thumb to my forearm." That is not an acceptable way to force your connective tissues that are already weakened into a position. That's going to cause more harm or more injury. Jan D.: We discourage those things and we often will teach patients the best posture to make sure that they are supporting their body on their muscles instead of their joints. So for example, someone is standing. As they're standing up, they're locking their knees into hyperextension, that means that their knees are going past straight. That's not an acceptable position for your joints, especially if your joints are weaker or unstable. So we'll teach our patients to unlock their knees or unlock their elbows when they're resting their arms on a table to make sure that they reduce the strain on their joints and that we're teaching them to place the stability onto their muscles instead. Jessica: So how does somebody identify an occupational therapist since all of these tools seem like they would be extremely helpful to someone with EDS? Jan D.: Typically, very different for everybody. Sometimes patients come to us and they're at their wits' end, they don't know what to do anymore and they've been dealing with chronic pain and chronic issues for so long, and they finally go to the doctor and they go to many specialists and they don't know what to do. Unfortunately, sometimes it has to be that their doctor is educated enough in knowing what to look for, and sometimes I encourage my patients to educate their doctors because not every rheumatologist and not every internal medicine doctor or family practice doctor knows about connective tissue disorders and they have to be the ones to educate and turn the tables. I was never experienced at Ehlers-Danlos patients and treating connective tissue disorders until I had a few. So I was lucky enough to have patients that were very educated in their condition and educated me up until I got to this point, and they still continue to educate me. Jessica: I think that's a huge point and something that we are really finding that we would like to help our patients with because it takes a lot of confidence for a patient to turn the tables and have to educate their providers. So thank you for highlighting that. Is there anything else that you feel should be highlighted with regards to occupational therapy and Ehlers-Danlos syndrome? Jan D.: I feel like it has had more awareness through social media, and that's a great thing. Up until maybe about five years ago, there were very few therapists in the Chicagoland area that was working on EDS or knew what EDS even meant. And now I'm seeing a lot more organizations and groups, Facebook groups, and parents get involved, and families get involved, and that's a good thing. I think it helps to continue to educate the public and healthcare professionals at all levels. Doesn't have to be a specialist of any time, but even nurses, because then they can learn about these conditions and how it can affect everybody very differently, and you don't have to have the worst symptoms to need help. And if we all kind of approach it in that way, I think we can build a better network for our patients. Jessica: Thanks to Jan. Patricia Shimanek has been a physical therapist for over 30 years and has expertise in EDS amongst other chronic conditions. We're excited to hear from her today. Jessica: So Pat, I wanted to start our conversation with telling our listeners what an Ehlers-Danlos syndrome or hypermobile patient can expect when they go to see a physical therapist. Patricia: So I feel like there's a lot of questions that we need to address with our clients with EDS to know about their history in order to help them through all these different issues that they're having. So I like to ask them about their pain levels, what is their daily pain like, what is their worst pain like, where is their pain, what are their worst joint areas involved? We talk about fatigue level. Again, that's a zero to 10 scoring. Some people have never been asked that before. Zero would be great, 10 is I just want to go back to bed. Patricia: I like to find out, can they stay asleep at nighttime? Can they get to sleep at nighttime? Do they nap a lot during the day? What is the best time of the day for them, so maybe we can find a time of the day that works best for their exercise program? Subluxations, do they have any? What joints do they have? Can they put themselves back together again? Do they need help if they cannot? Fluid intake, this is a really big one because with the Pott's related issues, we want to make sure that they're having enough fluid. Do they take any electrolytes? Do they take the salt? We got a lot of them that have no problem eating all the salt in the world, and that's great. We try to rule out more caffeinated Pott's, high sugary drinks, coffee, teas with a lot of caffeine. Patricia: I look if there're any orthotics or bracing, do they wear orthotics in their shoes? What do they do during the daytime? Do they have shoes on throughout the day, or do they go barefoot a lot? Do they have any bracing that they need, or do they have bracing that they have that they don't use anymore? And we could talk through all of those type activities. What's their activity level? Do they lay down all day long? Are they going to school? Are they going to school online? Do they work? Do they work outside their home? Work inside the home is just as important. Do they do their own cooking, cleaning, laundry, walk the dog? Do they have any social activities? We want to know if they're doing that. That's, I think, a very important thing, especially with their younger clientele. Patricia: What's their Beighton score if they haven't had that before? It's a nine-point scale that we look at. Usually, once I do it or with Dr. Tinkle, I feel comfortable with that score, I won't do it again. But if we haven't, I will do the score, I will tell them it, and then I tell people that they shouldn't be doing all those tricks anymore. When and how were they diagnosed? Is there any family issues? Patricia: And then, of course, we want to know about other medical history, do they have any Pott's related issues, any GI issues, including reflux, nausea, constipation? Is their bowel and bladder issues? As a woman's health therapist, those are things that we help address. Do they have pelvic pain? Do they have pelvic pain with intercourse or just pelvic pain? Do they have any temporomandibular joint pain? That's the joint up here in the jaw. Any surgeries in the past? Any falls, any concussions, anything in general with their health history, any fractures. That's the big part of their subjective, and then we course go into more of the other part of the eval. Jessica: And what are your goals for a patient with Ehlers-Danlos syndrome? I guess, maybe starting with their short-term goals, and then long term, what can they expect with working with a physical therapist? Patricia: So our short-term goal may be able to walk around the house five times a day for five minutes, to start their exercise program. I always give everything usually 10 reps, three times a day, and I'm like, "Okay, you can't do that. That's okay. So you do two reps today, twice a day. Tomorrow you do four reps a day, three times a day. The biggest thing is if you don't move, you're never going to go any further. I can't help you if you can't slowly get there." Patricia: Another short-term goal is just a lot of awareness. A lot of them have no idea where they are partially in space. They have no idea that they're doing the funky motions that they're doing, or they keep cracking their knuckles, or they're standing with their knees hyperextended, which puts a lot more pressure on, teaching them awareness about proper shoe wear. Some of them have a lot of other issues and they can't even get shoes on, so we have to talk about looking for maybe an open slipper that has support in them. There's different shoe that they can buy that has some in there. Patricia: Long term goals would be obviously getting strong enough, maybe returning to school, working a part-time job, getting out and visiting with a friend. That social aspect I think it's very, very, very important. I hate when people say, "We're going to take them out of high school." I'd rather we try to work on getting genes involved in high school, having the social worker at the school and the counselors working with them. Even if they go to class for an hour need to go lay down for half an hour and then go to the next class, I just think that is very important. Some people like just take them out entirely. That's okay, too, as long as we're working on some of these other issues for them. Jessica: How does someone with Ehlers-Danlos syndrome get referred to a physical therapist typically? Patricia: So typically, we can take an order from any doctor. I believe we were just discussing about nurse practitioners and I believe that has recently changed as well as chiropractors. In the past, we have never been able to take it from any of those sources and stuff. What I prefer written on there though, is that they write a valid treat because that gives us options of how we want to progress with them. The other thing too, is not all the doctors like to write EDS on there specifically. They might write joint hypermobility syndrome, they might say multiple joint pains. Those are the best because if they come in and saying, "Right shoulder pain," that pretty much means I'm only allowed to address the right shoulder. So I like it to be a little bit more open-ended in having multiple joint diagnosis on there. Patricia: That being said, Dr. Tinkle has always been wonderful about open-ended and allows us to add anything in. And then usually when we do our progress note, we can also recommend for further things that they might need like orthotics, women's health, therapy, temporomandibular joint therapy. If it's not written on there, we can have them get another order so they can have all those other issues, or OT. A lot of times Dr. Tinkle [inaudible 00:53:51] with some PT and then he'll leave it up to my discretion to refer on and vice versa. Jessica: And how is somebody with EDS able to determine if the physical therapist that they're seeing is somebody that's familiar with Ehlers-Danlos syndrome? Patricia: That's a difficult one. Most people go, "Oh, that therapist has no idea what I want to do." And so, first of all, you can ask. That's perfectly okay to ask. I should say, they have a lot of overwhelming issues, so treating a lot of EDS patients can be overwhelming to a physical therapist, because there's so many things that you have to address, and unfortunately, we don't always get any more time with them than with anybody else. So asking right away if somebody has some experience, most physical therapists know how to progress exercise. That's what we're trained to do. But we're also trained to be pushers, and EDS patients tend to need much slower going, maybe a little bit more compassion from their physical therapist. So again, any therapist technically is qualified, but there are some that just get it better than others. Jessica: And then what types of treatments or activities should somebody with EDS stay away from? Patricia: Well, that's a good one. So if we look across the world today, our gymnast, our ice skaters, our swimmers, probably have some form of joint hypermobility syndrome, and they do that because their bodies are able to do some of those movements. But somebody who has Ehlers-Danlos that is having a lot of difficulties, those are usually the things we recommend not doing, high context sports. A lot of running, hardcore activities could be difficult. You don't want to put yourself into the hypermobility type activities, and it's difficult for some of our young people to experience until they start having some major issues and then they kind of just stop doing everything, and I'm like, "Well, I don't want you to stop doing everything. You should still dance. Dancing is great, activities are great, but we just have to put those limitations on what you can and cannot do." Jessica: Is there anything else that you feel should be highlighted when we talk about Ehlers-Danlos syndrome and physical therapy? Patricia: Well, so we were trying to talk before about we look at when we evaluate them. So besides taking that good subjective history, because I think that's very important, of course we're still doing a regular evaluation. We need to look at range of motion. We need to look at strength and stability and proprioception awareness, looking at their cardio, looking at their neuro, looking at subluxations and special tests to see if we can address some of those issues. And a lot of people, like I said, they feel they get tired very quickly and they don't want to do anything. Always remind them just a little bit every single day will be helpful. Patricia: Now, some of the things I thought I'd put in place a little bit too is the kinds of things we look at when we talk to other therapists and patients in how to do this. So we always talk about small, slow steps, and they can take a small, slow step as much as they want, but to keep going forward. Okay, have a bad day? We all have bad days. Take a bad day, take two bad days, but if you take a bad week, they lose it fast. Most of us can gain strength in a pretty regular quickly way, okay, over the next week or two if we start doing weight training. Our EDS patients seem to progress so much smaller. So anytime they have a setback, it becomes a major setback. So I've had patients that have come in before and say, "Every time I've hurt myself, my doctor told me not to do anything." Well, that's probably one of the worst things we could tell them because now their whole body is becoming more weakened, and it's just that much harder to fight to come back up again. Patricia: I do a lot of education, education, education, education, education. If I didn't say that enough, and that's okay. That's why we're here. But I know that not all PTs is comfortable with that, but I've been doing it for so long I feel very comfortable educating them. And what's most important too is their sign is a zebra, which I realized I put this on today and I was not trying to do that. It just dawned on me now, the zebra. We're all zebras because we're all alike, but we're all different. I don't have Ehlers-Danlos, but I'm just saying in general that what might work for one person doesn't always work for the other person, and it is a trial and error. So even the best person, the best physical therapist, OT, doctor, whatever, this has worked for the five times out of those people, but it doesn't work on you. That doesn't make the doctor or the PT the wrong person, it just said we have to find something else in order it to do for them. Patricia: The other thing is being able to know, recognize in physical therapy that maybe you need to refer them, like I don't do orthotics anymore. I have a wonderful group of therapists that do, and I have a foot guru for a coworker and she sees a lot of my EDS patients and she does a really good job [inaudible 00:59:15]. Temporomandibular joint, that's the whole TMJ stuff. We have a couple of therapists that are trained in that that I will refer onward to. OT of course is a big one too. We also have concussion therapy, so if they feel like there's somebody really needs to do that. So knowing that I can refer them on to other specialists is really important. Jessica: Thank you, Pat. Jessica: After hearing from these experts, we know that this still might be the beginning of your journey. So that might leave you wondering, "Okay, what now?" So what now? That's why we've taken the information here and added additional resources, explanations, links and references for you and a downloadable guide on EDS. You can get your free copy of that guide by going to raredisease.com\eds. There you can download a recap of this episode that lists the key points as well as several links and resources for you to further explore. Jessica: Finally, if you need to speak with someone directly about EDS or your personal situation, we're here to help, visit raredisease.com\help to get in touch. We are standing by. This Rare Disease Connection, a production of Aspect Health and raredisease.com