Episode 05 — Ehlers-Danlos Syndrome – quick tips with Eir and Laura

Hello and welcome to episode 5 of the podcast Tips and Tricks on How to Be Sick.

I’m Eirenne and I will be your host as we talk about navigating the world as people with chronic illnesses, both physical and mental, disabilities, and the ways in which the world isn’t necessarily designed for us.

In this episode, we are going to be talking about Ehlers-Danlos Syndrome, or EDS. There are many types of EDS, but they are considered to be the same family of disorders because they all stem from the same cause: improperly made collagen in the body. Collagen is a protein that forms the latticework that everything in the body gets built upon, but it’s not all the same. There’s collagen in your skin, but it’s different from the collagen in the cartilage of your knees, which is different from the collagen in, say, a placenta.

There’s like 28 different type of collagen across several different genes, and each one has a different effect if there’s an error in the genetic code, resulting in a wide range of possible symptoms for people with some form of EDS.

These can range from relatively mild symptoms like smooth, baby-soft skin that might be extremely stretchy in some people, or easy bruising, or odd scarring, or joints that move too far or in directions they’re not supposed to (this is called ‘hypermobility’) or that dislocate completely or partially, sometimes without any kind of trauma or injury (a partial dislocation is called a ‘subluxation’).

To potentially life-threatening things, like heart and blood vessel weakness that can cause sudden, early death, or instability of the skull on the cervical spine, which can result in the brain actually sliding out of position. Please note that I’m using “mild” here as an indicator of “probably not going to require immediate medical intervention to save the person’s life” and not to say that the symptoms aren’t bothersome or painful or life-changing in many ways.

That huge range of potential problems is why this is considered a “diagnosis of exclusion” — meaning, a doctor needs to evaluate you and determine that your symptoms aren’t being caused by something else first, because having a correct diagnosis is critical to getting the right kinds of monitoring and treatment.

“But Eirenne, I have some of those symptoms; are you saying I can’t say that I have them?”

Nope, not at all! You can absolutely identify if your joints are moving more than they’re supposed to, or if your skin stretches more than most people, or if you bruise a lot, and you should feel free to use any tips or tricks we offer for EDS that you think will help.

But, just know that those symptoms can be caused by other things besides EDS, and it’s important to find out what’s really going on, so you can know how to monitor it and how to treat it. Remember how I said there are different types of Ehlers-Danlos? Each type has a set of common symptoms, some of which show up in some types, but not others. If you look at a list of symptoms and assume that you have one type of EDS because of it, you might be missing another type that could have the some of the same markers, but that needs a different kind of treatment or monitoring test.

“But what about blood tests? Can’t they just test for genetic stuff?”

Well, yes and no. They can run genetic tests — either blood tests or tissue biopsies — but they will only be helpful in some cases. Why? Because not all the genes that could be involved in EDS have been mapped yet. In fact, the type of EDS that I have, Hypermobility type (hEDS), is one of the types without a definitive genetic test available for it. There are tests for the more severe types, the ones my geneticist called “lifespan shortening variants.” That’s going to be stuff like Vascular type (vEDS), that can cause very serious conditions like spontaneous aortic dissection, where the biggest artery in the body literally pulls away and detaches from the heart.

For folks with that sort of serious risk, there are different routine monitoring tests that need to be done (or done more often) to find any problems as early as possible, because it’s pretty much always easier to successfully treat something the faster you find it, before it gets worse — or before it’s too late.

Basically, you know your symptoms and your body, but you probably don’t know all the possible causes of those symptoms, so only a specialist can give you a definitive diagnosis of Ehlers-Danlos Syndrome. By “specialist” I mean a geneticist or a specially-trained rheumatologist. This is a rare disease, and it can be hard to find doctors who know a lot about it. Most of my doctors only vaguely recognized the name when I was first diagnosed, and I see doctors at a major university research hospital! There’s a theory that this is more common than previously thought, because it’s hard to recognize, so there’s a push to get primary care doctors to identify the symptoms so patients can be referred to the right specialists, but it’s still not well known. If you suspect this might be a possibility for you, you could try my approach: print out the [NIH summary of EDS] and physically hand it to your doctor.

And, at least in the US, it can be an insurance nightmare if you don’t get a diagnosis from the right kind of doctor. Your orthopaedic specialist, your cardiologist, the nurse practitioner in your primary care clinic — these all might recognize some signs of EDS, but none of them can give you a diagnosis, because none of them will have the broad, specialized training necessary.

A production note before we dive in: the audio will fade out or become slightly garbled in several places during this episode. I apologize for the poor audio and would like to remind everyone that there is a full transcript available for any sections you find difficult to understand in the audio.

So, now that everyone knows what we’re talking about, let’s get to some tips and tricks for dealing with EDS.

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