Navigating the health system with Ehlers-Danlos syndrome [PODCAST]

 

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We sit down with Denise Reich, a patient advocate, to explore her journey of navigating the healthcare system with Ehlers-Danlos syndrome (EDS). Denise shares her experiences from the initial mention of EDS during an ophthalmology appointment to finally receiving a formal diagnosis. We delve into the challenges she faced advocating for herself amidst dismissive attitudes from healthcare professionals and how the diagnosis of EDS has impacted her medical care. Denise sheds light on common misconceptions surrounding EDS, the negative perceptions within the medical community, and the steps needed to address them. Through her story, we uncover the importance of early recognition and validation of symptoms in patients, along with empowering messages for those struggling to have their concerns taken seriously.

Denise Reich is a patient advocate.

She discusses the KevinMD article, “Ehlers-Danlos syndrome: Overcoming doctor bias for a life-changing diagnosis.”

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Transcript

Kevin Pho: Hi, and welcome to the show. Subscribe at KevinMD.com/podcast, and get CME for this episode by clicking on the CME link in the show notes. Today we welcome back Denise Reich. She’s a patient advocate, and today’s KevinMD article is “Ehlers-Danlos syndrome: Overcoming doctor bias for a life-changing diagnosis.” Denise, welcome back to the show.

Denise Reich: Hi, it’s good to see you again. Thanks for having me back.

Kevin Pho: So Denise has been on in the past. Go to KevinMD.com/podcast to hear her story. But today let’s jump right into this most recent KevinMD article, about Ehlers-Danlos syndrome, overcoming doctor bias for a life-changing diagnosis. So for those who didn’t get a chance to read your story, tell us what this article is about.

Denise Reich: It’s basically about how I was diagnosed with Ehlers-Danlos about two years ago, and the surprising reactions that I’ve had since that diagnosis.

I see an ophthalmologist for a number of vision problems that I have, and out of the blue, in the middle of one of our appointments, the ophthalmologist asked me if I have Ehlers-Danlos. And this is something that has come up before with specialists just randomly saying, I wonder if you have connective tissue problems, but nobody was ever in a position to really diagnose it. And frankly, I have other conditions. I have CVID, which is an immune deficiency, I have cardiac issues, I have asthma. I did not need one more thing to worry about, so I was not particularly zealous about trying to figure this out.

So when the ophthalmologist asked me, I just told her what I had told other doctors, which is, yeah, as far as I know I don’t have this, but I will ask my rheumatologist, see what she says.

When I asked my rheumatologist, she just instantly shut it down, just really blew it off. She said, all women are flexible. That was basically her answer. And because I had so many other medical things going on, I was fine with that. I was absolutely fine. I knew I was being dismissed, but when you’re worried about CVID and other things, I didn’t care.

So I went back to my ophthalmologist six months later, and she asked about it again, and I told her what the rheumatologist had said. And I don’t think I’ll ever forget the look that she gave me. She just kind of looked at me over her glasses and said, OK, I’m just going to leave this in your chart. And when I went and read the notes, she did put something in about possible Ehlers-Danlos, with her explanation of why, with what she was seeing specifically in my eyes that made her think that.

And at this point I thought that I should possibly take it more seriously. If it was something that was potentially affecting my eyes and affecting my vision, I needed to know what it was.

And so that was the argument that I gave to the rheumatologist when I went back to see her, that this could be potentially serious if it was affecting my eyes, please help. And she rolled her eyes. She absolutely rolled her eyes, she was very dismissive. But she did make a referral.

And to make a long story short, I ended up having my information submitted to the clinical genetics department at a major university research hospital. They looked over my records, they agreed to see me, and my ophthalmologist had been absolutely right. I did have hypermobile Ehlers-Danlos.

Kevin Pho: So let’s take a little pause here. For those who aren’t familiar with Ehlers-Danlos syndrome, just give us a brief synopsis of what that is, so we get everyone on the same page.

Denise Reich: It is a connective tissue disorder, and there are 13 identified types of Ehlers-Danlos at this time. Some of them are incredibly serious and they affect the heart, they affect the vascular system, there are some that affect the eyes specifically. All of them except for hypermobile Ehlers-Danlos have a genetic marker. Ehlers-Danlos type 3, which is what I have, they’re still working on that, but they are making progress.

And because it affects connective tissues, it can kind of reach into lots of different body systems. It can reach into the joints, it can reach into the heart, the eyes, as I found out in my case. And it really can be very insidious in how it encroaches on your health. And hypermobile Ehlers-Danlos is considered to be the least serious of them, but it certainly still does have an effect.

Kevin Pho: And before you went to that appointment with the ophthalmologist, as far as you knew, you didn’t have any symptoms that could be suggestive of Ehlers-Danlos?

Denise Reich: I was hypermobile, and that was something that had been brought up by a lot of physical therapists, a lot of orthopedists that I had seen. But I grew up dancing. Everybody in my dance class was hypermobile, that wasn’t anything unusual, and so I actually didn’t even know it was an issue.

People do the parlor tricks, look at me, I can bend my elbow backwards. And there are childhood pictures of me going back to the time I’m a really small kid, where I’m doing things that the joints probably should not have been able to do, and nobody thought anything of it. I certainly didn’t think anything of it. I thought it was fun. I thought, look at me, I can turn my elbows upside down, isn’t that cool?

So it wasn’t something that I ever thought about as a red flag. And even when it was brought up in physical therapy, my general response was, well, OK, if this is bad, just show me the correction, show me what I need to do so I don’t hyperextend this joint. And I just went on. I didn’t really connect it to this. Or, if the doctors were saying that I didn’t have it, OK, cool, I just have weird joints. As my rheumatologist said, all women are flexible. So I didn’t really put two and two together.

Kevin Pho: So other than your rheumatologist who dismissed the diagnosis, did any other clinician that you encountered also dismiss the possibility?

Denise Reich: No, I mean, basically rheumatology kind of pooh-poohed it. I did have one orthopedist that said, well, even if you do have this, there’s nothing they can do, so don’t even worry about it. And my immunologist actually had in my notes, from the very first meeting, that there was a possibility of Ehlers-Danlos. He said it years before the ophthalmologist did. And so there were a few little hints here and there where people were wondering, but nothing that anybody was bringing forward.

Kevin Pho: So once you were diagnosed with hypermobile Ehlers-Danlos at that medical center, tell us how that diagnosis changed your life.

Denise Reich: It’s more knowledge, it’s more information, and it just honestly amounts by and large to more vigilance about what I do.

I do have some cardiac problems. I told my cardiologist about it, so he added a scan of my aorta. And oddly enough, some of the cardiac things that I have been diagnosed with, because I have regurgitation in three heart valves, that’s something that comes up with hypermobile Ehlers-Danlos syndrome. Nobody put two and two together, so they knew about the heart valves before they knew about this diagnosis. So cardiology does a scan.

I keep going to my ophthalmology appointments, and they are mindful about this diagnosis, so they look for a few things specific to that. With physical therapy, I just try to go to providers that understand hypermobile joints and can help me not hyperextend my joints when I’m exercising. So those are the biggest ones.

There’s also an issue with anesthesia. And again, this is one of those things that hindsight is 20/20, but from the time I was a teenager I had had issues with local anesthesia, where it did not work, or it would stop working in the middle of a procedure, or they had to give me twice as much as they thought that they should. And I certainly brought it up whenever I had to have a biopsy or a procedure, but I didn’t know that it was connected to anything. I thought, OK, this is just weird, I’m going to need a lot of lidocaine. That’s basically the way I dealt with that.

But it was things like it would wear off in the middle of dental procedures, and I had a tiny little biopsy on my foot and they had to give me two full doses of lidocaine. It just kept coming up. So that is something that I do bring up to doctors if I am going to be having a biopsy or anything involving anesthesia, because they do need to know.

I mean, I had foot surgery last year, and it started out as MAC and it ended up being a general, because they couldn’t give me enough lidocaine in the foot. I didn’t know, I was out of it, so whatever they did, I said, OK, cool, do what you need to do. But they did have to do that.

Kevin Pho: Do you know if your situation was an isolated one? Have you talked to any other Ehlers-Danlos patients, and did they have their concerns about the diagnosis dismissed by their clinicians?

Denise Reich: In the patient groups it absolutely does come up, that people either have their diagnosis dismissed or it takes them a long time to be diagnosed. The Ehlers-Danlos Society, I think, also has statistics on this, that they actually feel that Ehlers-Danlos isn’t rare. They feel that it’s just very underdiagnosed, and that if more people were having it diagnosed by their clinicians and taken seriously, that the numbers would be far greater than they are right now.

Kevin Pho: Now, what kind of advice do you have for patients who have their concerns or diagnosis dismissed by their clinicians? How can they avoid the situation?

Denise Reich: Unfortunately, I think it’s one of those things that you don’t know how doctors are going to react until you meet them. And looking for doctors in patient groups, that’s great, but you also don’t want to be led to a cash only doctor operating out of a van, so to speak.

You want to try to go to a major university hospital and see if genetics can see you, to see if rheumatology there has somebody that deals with Ehlers-Danlos, and just approach it that way.

I didn’t approach it looking for an Ehlers-Danlos diagnosis. I approached it as, there seems to be something that could be affecting my eyes, I’d like to know what that is. And I think that was also the difference, that I went in it from a different perspective. I didn’t decide that I had it beforehand. I went in saying, this could be a problem, what can you tell me?

Kevin Pho: Sometimes when I talk to patients, there’s a little bit of hesitancy about that patient asking for or looking for a second opinion. So tell us your perspective on that. How difficult is it to look for another doctor, to have another pair of clinician eyes look at you?

Denise Reich: Well, it’s draining financially. It’s draining because you’re looking at co-payments, you’re looking at time to get there, you’re looking at time for the appointments. It is emotionally draining to try to keep looking for answers. I think it’s better to try to look for the best answers first, which is, you go to a major university hospital, you look for the best first.

But in terms of looking for a second opinion, what patients need to understand is that they do have the right to have a second opinion. It is called the practice of medicine. We don’t know more than the doctors, and I want to make that clear. It’s not who knows more, who’s right, who’s wrong, but a different doctor might have a different interpretation or have a different set of skills. I mean, something like Ehlers-Danlos, that a lot of doctors don’t really seem to know a lot about, you might find doctors that really don’t know it and they don’t feel comfortable with it.

I mean, I always bring up the example of CVID, which is a diagnosis that is based on a very clear, objective set of laboratory results. It is not interpretation in that respect. You either have the numbers on the labs or you don’t, and you have the results from the test or you don’t. But it still wasn’t diagnosed for like 30 years, because the doctors that I was seeing, that wasn’t in their wheelhouse, and they were just running my white blood counts and seeing nothing. So they didn’t run the right test to find what the answer is.

And I think that’s something that patients do need to keep in mind, and also doctors need to keep in mind, that if you don’t personally know what’s wrong with a patient, it doesn’t necessarily mean that there’s nothing wrong. It might mean that you haven’t opened the right door to find the results that that patient needs. And if you open that door and the results are negative, cool, now your patient has a confirmed non-diagnosis, or they have a confirmed confirmation that they really don’t have the thing.

I wish doctors would understand that if a patient’s coming back again and again, it’s not for fun, it’s because something is wrong and they really are desperate to have an answer.

Kevin Pho: Now, if you were to replay that scenario with your rheumatologist again, what would you have liked to see the response to be?

Denise Reich: I probably would have brought up the argument about the ophthalmologist in the first visit where we discussed it. I mean, when she blew it off saying all women are flexible, the answer probably should have been, well, my ophthalmologist is concerned, and that has to do with my eyes, not my flexibility, and if it is something that can affect vision, I’d like to know. That’s probably the answer I should have given initially, and not the second encounter where we discussed it. And if she said, I don’t want to explore this, my answer probably should have been, well, can you explain why you don’t feel that I could have this affecting my eyes? Is there any harm in finding out?

Kevin Pho: We’re talking to Denise Reich. She’s a patient advocate. Today’s KevinMD article is “Ehlers-Danlos syndrome: Overcoming doctor bias for a life-changing diagnosis.” Denise, as always, we’ll end with your take-home messages to the KevinMD audience.

Denise Reich: I think what I’d like to leave as my take-home message is that, clinicians, please don’t throw the baby out with the bathwater. Don’t dismiss an entire patient population just because the condition might be popular, or might be mentioned on TikTok, or you might have had a patient that really didn’t have this but thought that they did.

There are people out there that have this condition, and it is a condition that was first identified in 1901. It is not something new, and patients really need you in their corner, especially if it’s something that can affect their vision or their heart or their spine. They need answers, and please take it seriously.

And if you have a patient with Ehlers-Danlos that comes in that already has the diagnosis, same thing. Please don’t just be hostile just because you see those words on the piece of paper. Please talk to them, please find out how they were diagnosed, why they were diagnosed, and what they need from you, because they might be there for something that has absolutely nothing to do with Ehlers-Danlos. We need to see doctors for everything.

So just be aware that it’s a diagnosis like any other, and patients really need their clinicians in their corners, not just automatically looking at that diagnosis and having a bias.

Kevin Pho: Denise, thank you so much for sharing your story, time, and perspective, and thanks again for coming back on the show.

Denise Reich: Thank you so much.

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