Latest / The YMyHealth Podcast | Wellness and Healthcare Insights for Millennials / Understanding Ehlers-Danlos Syndrome with Dr. Sujana Reddy
Transcript
- 00:02 Melissa Welcome to the YMyHealth podcast, a healthcare podcast created by millennials or millennials. I'm Melissa Schenkman. 00:09 Julie Woon And I'm Julie Woon. We're two members of Gen Y on a mission to tackle the health challenges. 00:13 Speaker 3 Unique to people in their 20s, 30s, and 40s. 00:16 Melissa With inspiring Survivor stories, plus insights and practical advice from experts across the country. We've got you covered. 00:23 Speaker 3 Whether you're navigating a chronic condition, cancer, or challenges to your mental health, or. 00:27 Melissa You'Re trying to manage our complicated healthcare system and your prevent or just want to make smarter healthcare choices, this is the podcast for you. 00:37 Speaker 3 Let's get started. 00:40 Julie Woon Hi, everyone. I'm Julie Woon and I am one of the co hosts of the why My Health podcast. And Today I have Dr. Reddy on with us. She is an internal medicine physician whose personal journey with Ehlers Danlos syndrome and long Covid has uniquely positioned her to bridge the gap between doctor and patient. She's a 2021 grad of the Alabama College of Osteopathic Medicine, and she completed her residency at East Alabama Health in 2024. And now Dr. Reddy specializes in complex chronic conditions, including POTS and Ehlers Danlos and beyond her clinical practice. She also serves on the board of awareness for potsies and has been featured in publications including National Geographic and science. So, Dr. Reddy, we're very excited to have you today and thank you for joining the podcast. 01:28 Dr. Sujuna Reddy Thank you for having me. 01:30 Julie Woon So today we're going to talk about Ehlers Danlos syndrome. And before we jump into that and your personal journey, could you just quickly give a brief explanation of what it is for listeners who may not be familiar? 01:42 Dr. Sujuna Reddy Yeah. So Ehlers Danlos syndrome, or eds, is the other way that we can kind of short phrase. It is a collection of heritable connective tissue disorders, and it's caused by a group of genetic variants that basically cause defects in the collagen and or other related proteins that are, like, associated with the connective tissue that lines basically our entire body, from our skin to our joints to our blood vessels, and basically can impact all major organ systems. According to the 2017 International Consortium on EDS, there's about 13 recognized types of EDS that each have, like, their own distinct features and genetic causes. But the most common type, the one that I also have a diagnosis of, is hypermobile EDS or HETS. And there's still a lot of, you know, research underway to see if we can find a genetic marker for this type. 02:41 Dr. Sujuna Reddy Roughly about 1 in 500 have this type. So it's actually fairly Common. And the other types, like vascular EDS, for example, you know, that has a mutation and COL3A1, which is a gene that codes specifically for type of collagen found in the body. And so those patients are very high risk for, like, aortic aneurysms and dissections and ruptures of their organs, like their bowel or uterus. So figuring out, you know, which type that you have is super important so that we can, like, mitigate any, you know, risks or harm. 03:16 Julie Woon And can you talk a little bit about your personal journey with EDS and how it's influenced your medical career? 03:21 Dr. Sujuna Reddy Yeah. So living with Ehlers Danlos, it shaped my entire life, every aspect of my life. And ultimately, it didn't just influence my path in medicine, it defined it. And having this condition gave me the unique perspective of deeply understanding what it is like to be a patient, you know, navigating a very broken and unresponsive healthcare system firsthand. I have experienced the frustration and hurt of not being believed in, delays in diagnosis, you know, lack of understanding amongst medical professionals. And it was then that I decided to use my experience as motivation to fight for my health so that I could help others like me suffering from these invisible, chronic conditions. And it became sort of my mission to make a difference for others facing similar struggles. 04:18 Dr. Sujuna Reddy And every patient encounter I have, I strive to listen more, validate my patient experiences, and push for, you know, greater awareness and education within the medical community, because I didn't have that, and I don't want anyone to go through what I went through. 04:34 Julie Woon Yeah, you mentioned that this kind of, like, common issue of overlooked symptoms that both you've experienced and that you see with patients. Can you talk a little bit about what those symptoms are that patients and doctors should be aware of? 04:46 Dr. Sujuna Reddy Yeah, because the connective tissue is just found literally everywhere in the body. The impact can show up in a lot of different ways, and it can change over time. In particular, you know, like in medical school, we're taught to look for extremes of eds dislocating multiple joints. Can they do party tricks? Like, are they a gymnast or an acrobat? But it's much more than just joint hypermobility or stretchy skin or fragile skin. And I think one of the most overlooked signs is like, the dysautonomia. You know, roughly 70 to 80% of those of us that have hypermobile Ehlers Danlos will have some sort of disruption in our, you know, autonomic nervous system, which affects how blood flows back to the brain and other organs. So you know, they'll be dizzy or lightheaded or they faint or have near fainting episodes. 05:34 Dr. Sujuna Reddy You know, they have temperature dysregulation is a big one. Excessive sweating. I mean, I see patients with this condition every day, and I diagnose them and they're like, yeah, like, I passed out when I was like, 13 years old and no one knew why. And so, like, that's like a huge miss sign. Another thing is proprioception, and I didn't really need, like, I didn't know I had this until I became an osteopathic doctor. And we studied about it by looking at the fascia, which is another connective tissue that lines the entire body. But, yeah, proprioceptive impairment, which is like your sixth sense, difficulty sensing where your body is in certain position. It really manifests as, like, gait issues, balance issues. In my case, with the spatial awareness, I was very clumsy and I was running into walls, I was tripping, I was dropping things. 06:20 Dr. Sujuna Reddy And then that led to more injuries, more, you know, ankle sprains and. And stuff like that. The other thing that's often overlooked is because of our weak connector tissue, we don't absorb medicine very well. And so there's a very high prevalence of, like, local anesthesia resistance. We just need more of it. Or, you know, we wake up during anesthesia or even, like, numbing agents. Like, if we are getting, like, an epidural, it usually doesn't work. Or if we get dental procedures, like, we need more medicine, that's a huge sign. Along with poor wound healing. And then immune dysfunction is also a big one. So, you know, we are very sensitive to certain foods or chemicals or medications. A lot of us do develop mast cell activation syndrome, mcas, which I'll talk a little bit about later. And then GI symptoms is huge. 07:08 Dr. Sujuna Reddy That's basically how my kind of journey manifested with eds was severe gastrointestinal problems is the highest reported in this population. And most of us get diagnosed with ibs, but it's much more than ibs, right? There's dysmotility, lack of optimal function in our gut. We get severe pain. We have delayed gastric emptying. Our nutrients aren't absorbed. Another overlooked sign, I think, is, like, easy bruising. When I was growing up, and a lot of my patients, they're like, oh, yeah, I, like, barely hit something, and I. And I have a huge bruise, like, with minimal pressure, very heavy cycles. A lot of us have a lot of gyne issues. Endometriosis is very high in our population. 07:47 Dr. Sujuna Reddy So, yeah, those are like the top things that I think are overlooked and you know, they're subtle things that were like, oh, okay, it could be this problem or that problem, but when you look at it together, you can connect the dots and say, oh my gosh, maybe these were signs of EDS and no one picked it up. 08:01 Julie Woon Yeah, even myself, after we've done a few episodes about this, I didn't even recognize or realize that those were some of the symptoms. So I think that's very interesting to hear about what people might be missing just on the off chance that those are not symptoms that they even knew to flag or think about when just like recognizing their own symptoms or speaking with their doctor. What are the current diagnostic criteria for eds? And I know you've already mentioned this a little bit, but it does seem like it takes patients often years to receive a diagnosis. 08:30 Dr. Sujuna Reddy Yeah, the diagnostic process for EDS varies by subtype. The rare earth stuff, we have some genetic testing that can kind of pinpoint this is a type you have and then detailed history. But when I assess for EDS, specifically HEDs, the most common form, which doesn't have a genetic marker. So what we do is we use the 2017 International Consortium on EDS Clinical Criteria. And you have to have three criteria that are met. And this is what I do for my physical exam assessment on every EDS patient. And so the first thing we do is we do joint generalized joint hypermobility. And that's usually assessed looking at a nine point Byton score where we look at the flexibility, like increased range of motion and key joints. 09:12 Dr. Sujuna Reddy So like the fingers, the thumbs, the elbows, the knees, if you can like place your palms flat on the floor with your knees straight. And then you also have to bear in mind age. So like age specific, you know, cutoffs for this item score. And so as we get older, we become more, not as hypermobile, it's less hypermobile. And so for anyone, like pre puberty children, adolescents, you have a score of six out of nine. And then for puberty to the age of 50, it's five out of nine. And then if you're above age 54, so that's criteria one. And then criteria two has like different features. Feature A, feature B, feature C. And you have to have two of the features to meet criteria two. And so feature A is like 12 different things that we ask. 09:58 Dr. Sujuna Reddy It's just like a physical manifestations, a list of traits like soft skin, mild skin, hyperextensibility, stretch marks, organ prolapse, hernia, you know, et cetera. And so we asked these 12 questions, you have to have five of those. And then you also have. For feature B, you have to have a positive family history. And that's where it gets kind of tricky, right, because so many patients are like, I don't know, my parents. My parents didn't get a diagnosis of it, but they did have signs of it. And so that's where. Where you really have to dig a little bit into the family history for that question. And then feature Cs, like musculoskeletal complaints, if they have multiple joint pains and widespread pain and, you know, joint instability, then they meet that criteria. 10:40 Dr. Sujuna Reddy And then criteria three is basically, do they not have anything else, like diagnosis of exclusion? No. Ra. No, you know, lupus and that kind of thing. We come to the conclusion, okay, all signs and symptoms point towards HEDs. So it's actually really not that bad of an assessment. It's pretty quick to do. Like, I can do it under, you know, five minutes. So it's like a really easy tool. And then you're like, well, that's so easy to do. Why are people taking so long to get diagnosed? And you're right, the average time is like 10, 12 years. And in my patients that I've seen thus far, I mean, it's 30 years, 40 years, 50 years before they get the diagnosis. And that's just unacceptable, in my opinion. I'm really excited. 11:21 Dr. Sujuna Reddy The Ehlers Danlos Society is actually going to be updating this criteria because it is pretty strict and it does miss key joints. Like, some people are just not hypermobile in the joints that we test, like they're hypermobile in their ankles or other joints. And so I'm really excited about this new criteria because I think they're gonna at least broaden it a little bit more so that maybe we can catch more cases. And yeah, there's other factors that I think kind of play a role in this diagnostic delay. And I think it's one. Right. The lack of medical education and awareness. I mean, I had maybe one small paragraph in medical school or like one PowerPoint slide on signs and symptoms because, you know, we're taught it's rare and only a handful of things to look out for. 12:05 Dr. Sujuna Reddy But then if you read about it, there's so many other signs, right, like we talked about. And so then that leads to misdiagnosis. And on average, like I said, most patients take decades, but then they also accumulate, like, 10 other diagnoses. And then they. It leads them down. Inappropriate treatments and procedures and that route. And then the gender disparities, it's you know, a huge reason, right? Women for a long time in history, their symptoms are just downplayed and dismissed and, you know, psychologize rather than saying that there is an organic physical cause, which usually is the case. 12:39 Dr. Sujuna Reddy And like my own story, you know, many patients have the burden of self advocating and conducting their own research and to get like a proper evaluation and correct diagnosis, I mean, that's just not right that patients have to dedicate, you know, they're already sick to dedicate that time and energy when the health care providers should be educated on it. And so, you know, I think it is our job as providers. It's my opinion that we should, you know, keep an open mind and that, you know, we don't know everything and, you know, the diagnostic delay seen in this, you know, population we should take seriously because it potentially could lead to irreversible, you know, joint damage. I've seen that in several of my patients or, you know, starting them on inappropriate treatments. 13:25 Dr. Sujuna Reddy And not to mention the time and the money that they spend to get proper care. I mean, it's just years of unnecessary suffering. 13:33 Speaker 3 So now we'd like to take a minute to talk about today's sponsor, Diekmann Dysautonomia. Have you or a loved one been struggling with symptoms like fainting, a racing heart, or crushing fatigue, only to feel dismissed or unheard by doctors? You may be experiencing dysautonomia pots or long Covid. Dr. Sara Diekman understands because she has been there. As someone who faced pots during medical school, Dr. Deekman knows firsthand the frustration of searching for answers. That's why she's turned her fight into a mission to help patients with these conditions live fuller, healthier lives. With her expertise from John Hopkins and a commitment to listening and truly understanding, Dr. Diekman offers compassionate, cutting edge care tailored to your unique needs. Visit dysautonomia expert.com or call 833-768-7633 to begin your journey today at Diekman Dysautonomia. Your voice won't just be heard, it will be deeply understood. 14:27 Julie Woon You've talked about how there's, you know, these different symptoms that could potentially be noticed or misdiagnosed by different types of doctors. I'm curious, which medical specialties are typically involved in diagnosing and treating eds? 14:40 Dr. Sujuna Reddy So because EDS affects, you know, multiple body systems, it often requires a multidisciplinary, like coordinated care amongst different specialists. However, this is incredibly difficult in the fragmented healthcare system that we have. So most patients with EDS have to consult multiple specialists that for seemingly unrelated symptoms, for example, migraines for neurology or rheumatology for joint pains, cardiology for heart palpitations, GI for digestion issues and so forth. So like, no one along this very hard path realizes or connects the dots. That's how they get kind of lost when all of these symptoms and conditions kind of tie back to this one foundation based diagnosis of eds. And so the reality is patients with EDS will need to see multiple specialists, even genetic counselors, which, you know, that's hard to get in. 15:35 Dr. Sujuna Reddy There's not that many genetic counselors, but you also need that one provider who's going to be your quarterback. Right. That can kind of coalesce everything. And people then look at primary care providers for that, but they don't have the time to do that. And so having an EDS provider like myself is super helpful. And I work at the EDS clinic. Many providers are like me and they have either eds, POTS or mast cell activation syndrome themselves. We've dedicated our careers to these conditions and our lived experience really changes how we listen, how we evaluate how we care and we kind of put everything together. You know, by the time they've seen us see us, they've seen literally all of these other doctors and I get to put the puzzle pieces together. 16:23 Dr. Sujuna Reddy And so our hope and dream for this clinic, and it's actually coming to fruition, which I'm really excited about, is that the EDS clinic has grown into one of the largest clinics in the United States that's focused on these conditions. And we're going to be specialty level, nationwide virtual access care to really optimize long term management for these patients because they deserve comprehensive care that will create a better quality of life that they truly deserve. 16:54 Julie Woon I think that's amazing because yeah, to your point, it is hard to find care across all these different specialties. It is very disjointed. And in many episodes, the podcast, we've talked about these different challenges that we experience in the American health care system and that's absolutely one of them. So I think that's so important and it's getting into treatment. What are the treatment options that exist for managing eds? Because like you said, there's a, a variety of different symptoms. So I imagine that management looks a little different than maybe other diagnoses. 17:23 Dr. Sujuna Reddy For sure. Yeah. While there's no quote unquote cure for eds, there is a combination of, you know, medical management of the underlying co occurring conditions, physical therapy, assistive devices, other Approaches can really help manage symptoms and prevent complications, improve quality of life. Like for example, I use, you know, knee braces and splints and kinesthetic tape for my hypermobile joints to prevent joint hyperextension and dislocations. And mobility aids are also very helpful for patients to reduce stress on the joints. I've also used, you know, electrotherapy like a TENS machine, the transcutaneous electrical nerve stimulation that's helped with pain. And yeah, I'll talk a little bit more about the specifics of like mast cell activation syndrome and POTS treatment. But those are also, you know, those need to be treated to improve the functionality. But I'll love to go into that in our next talk. 18:18 Julie Woon Yeah, perfect. And there's a variety of different treatments, there's a variety of different symptoms. How does EDS impact patients everyday activities and quality of life? 18:27 Dr. Sujuna Reddy Yeah, so lots of profound impact on the day to day activities and across honestly multiple dimensions beyond just the physical symptoms. Because our mobility, our endurance and extreme fatigue that persists regardless of rest, many of us live a very like unpredictable life. We don't know what each day is going to bring. Like am I going to wake up today with a dislocated shoulder from sleeping incorrectly or am I going to experience a dysautonomia flare or am I other unexpected challenges. And so this affects, you know, often their work. Some like me, have had to change careers and it's painful, right, because we want to do all these things but we, our body just physically can't. And then, you know, we don't have the accommodations that we need for our physical limitations or for symptoms, variarity. 19:21 Dr. Sujuna Reddy So this disruption, you know, creates financial strain which then further kind of compounds on the quality of life and limits access to, you know, resources and care. So it's just like a chain reaction in terms of it affecting also the social dimension. You know, many of us avoid social situations due to the fatigue due to the pain, activity limitations and even just facing misunderstanding from others who see us as normal or you know, other stigma perceptions. And so this social restriction along with everything else that we deal with can also lead to like psychological impacts where we have anxiety or low mood, often depression just from the frustration. Right. Like my mind wants to do X, Y and Z, but my body will literally not let me. And there's grief over that. 20:06 Dr. Sujuna Reddy There's grief over not being able to, the grief of like lost abilities and activities. So you can imagine we have to reconstruct our entire life and to be able to function in this world with Somewhat broken body. And so I think that's why it's so important that patients get their diagnosis earlier in life so that we can help create a world for each person with EDS that's just a little bit easier so that they can truly live instead of just survival mode. 20:35 Julie Woon It's a lot to deal with. And to your point, like there are very many implications for just like day to day life for these individuals. Are there resources that you've found particularly helpful for EDS patients that you often share? 20:47 Dr. Sujuna Reddy Yeah. So the number one website we give everyone is the Ehlers Danlos Society. That when I was like navigating my diagnosis and my journey, that was like the most helpful resource. It's just so comprehensive with their content. They have symptom tracking, educational material for patients and even for healthcare providers who want to learn more about this stuff. They've got support groups and just so much more. Project EDS Echo is where providers can go also to get like continued medical education on various topics. Chronic Pain Partners also has an extensive network of like local support groups. The Medical University of South Carolina musc, the Norris Lab. 21:31 Dr. Sujuna Reddy They have such valuable research and they're actually, I think one of the initial starting points for me when I was digging to find my answers and that was kind of how I put all my puzzle pieces together because of what I saw on their website. So they're so awesome. I highly recommend the Norris Lab. And then also, you know, my clinic, the EDS Clinic, we have a learning center that has so much rich content on all of these conditions. And you know, we're also there for people if they need someone, if they need an expert. You know, we're building the largest clinic of its kind in the United States. And we have real experts that get this. And so we're always happy to be a resource and of help. And then I also volunteer for a nonprofit organization, Awareness for Potsies. 22:16 Dr. Sujuna Reddy And we just create, you know, these tools and just some really amazing, just like content for patients not just with POTs, but also these conditions. EDs, MCAs, ME, CFS. And so that's also a great website to check out. 22:33 Julie Woon Amazing. And are there any recent developments in EDS research that have given you maybe the most hope or that you're excited to see more from? 22:41 Dr. Sujuna Reddy Yeah, the EDS Society is taking, you know, the major step forward with their initiative to update classification like I talked about earlier, so the diagnosis and then treatment pathways for eds. And I hope that this new criteria will help reduce diagnostic delay that's currently, you know, plaguing our patients. And then, you know, there's also some really promising genetic research studies that I hope will also offer some diagnostic advances. So the hypermobile Ehlers Danlos genetic evaluation study or the HED study, where they're, they've like, collected DNA samples. I've actually given my sample myself, the DNA samples from over a thousand HEDs patients, and they're running like whole genome sequencing in hoping to find a genetic causation for HEDs in terms of better treatment options. So there was one study that they're doing a clinical trial on right now for a potential breakthrough therapy. 23:37 Dr. Sujuna Reddy It's called soloprolol. It's like a beta blocker. So they're In a phase 3 clinical trial called Discover. And so it's a beta blocker, but it also has some partial beta agonist activity. So basically it. We hope in that study that we can see if it can promote collagen synthesis in the blood vessels for those patients that have vascular type eds. So that's like, pretty promising, I think. And then there was also a study done in Italy in 2021. They actually already published their results. Clinical geneticist Professor Marina Colomb, she basically found that HETS patients have like, a very high amount of a certain enzyme that's degrading our collagen and other types of connective tissue proteins. 24:23 Dr. Sujuna Reddy And so in this study, they demonstrated that antibiotic, my favorite antibiotic, by the way, doxycycline, was able to inhibit this enzyme and partially reduce some of the connective tissue disruption, which is amazing. So studies like that really do give me hope where we can, like, repurpose drugs and have them and use them to maybe help our conditions. 24:45 Julie Woon Yeah, that's awesome. I think it's exciting to hear about those and to know that there are people out there who are doing the research and looking for solutions and helping out. One last question for you for today, and that is, what would you like other healthcare providers to understand about eds, knowing that you're both a patient and a provider? 25:05 Dr. Sujuna Reddy So my advice to, let's say both people and fellow doctors and healthcare professionals, it's very simple. Believe us. Believe us when we say something is wrong with our body. You know, it is crucial that we have providers validate, you know, our experience, our story, because we're already, you know, struggling so much and feel invalidated and misunderstood. And I also want healthcare providers to know that EDS is far more common than we realize. It is not rare. Right. A rare disease is defined as fewer than 200,000 people in the United States, or if you look at the World Health Organization definition, It's fewer than 65 cases per every hundred thousand people. So while certain subtypes of EDS are rare, overall, EDS is 1 in 5,000. And the most common kind, like we talked about, HETS, is 1 in 500. 26:01 Dr. Sujuna Reddy So I guarantee you're seeing these patients and they're not getting diagnosed. And so, yeah, eds, like we also talked about earlier, it doesn't just affect our joints. Like, people think it's a multisystem disorder. So, you know, any health care provider that's listening to this talk, you know, I really implore you to listen, really listen to the person in front of you and their lived experience, because their story is going to hold the clues that you need to figure out what's going on. And even if you don't know what's going on, learning to say, I don't know is so important. That was a skill that I learned. And it's okay, right? Because medicine is evolving and our patients can be our guide, can be our teachers. 26:46 Dr. Sujuna Reddy And so I just say stay curious and, you know, use the most powerful diagnostic tool, which is listen to your patients. 26:55 Julie Woon Yeah. Well, thank you so much for being on the podcast. Like I said, we really appreciate it. Before we go, is there anything that you want to plug places where people can find you? The EDS Clinic or Awareness for Potsies. 27:07 Dr. Sujuna Reddy Yeah. So to reach us, you just go to EDS Clinic and you'll get to our website. That's how you can get in contact to schedule an appointment. If our state is up and running, we're still expanding. And then for Awareness for Potsies, you can type in actually in Google, just POTS support or it'll direct you to our website. Or if you want the website, it's awarenessforpottsees.org and yeah, that's how you can find us. 27:31 Julie Woon Amazing. Well, thank you so much again. This has been so informational and informative. And yeah, we'll be talking again soon for another episode, so everybody stay tuned. Thanks for tuning in to the why My Health podcast. 27:43 Speaker 3 We hope you're leaving inspired and informed. 27:46 Melissa Be sure to follow us on your favorite podcast platform so you never miss an episode and share why My Health with your friends. 27:52 Julie Woon Have a story to share or a question for us? 27:55 Speaker 3 Connect with us at ymyhealth on social media or visit our website@ymyhealth.com until next time. 28:01 Melissa Remember, your health journey starts with the right information. 28:07 Dr. Sujuna Reddy Stay healthy.