How Ehlers Danlos Syndrome Affects Multiple Parts of the Body- Part 2

As International Ehler's Danlos Syndrome awareness month comes to a close I wanted to talk some more about how Ehlers Danlos Syndrome affects the body in ways you might not have expected, and specifically the way it affects mine. I posted part 1 already, and here is part 2. EDS, as I've explained in many previous posts, is a group of genetic defects that causes the body to improperly make collagen, potentially causing all sorts of issues where collagen is found... which is most of the body.

First off, I wanted to say that it is really frustrating that I don't have a regular doctor managing my care who can explain to me which of my issues are connected to EDS, and who to go to for help with those issues, and the direction to go in. While I went to the EDS expert in my country, visits to her are really expensive and not something I can do regularly, so a lot of what I am learning about my body and how it is affected by EDS is things I've had to piece together, also from other members of the EDS community, and my own research. 

It sucks that it is like that, but Ehlers Danlos Syndrome, despite being discovered in the early 1900s, is only now being studied more in depth to find out the many ways it affects the body. However, that means, at least, in future generations, or maybe in my lifetime, other people will have the information more readily available, and maybe even the average general practitioner will be more knowledgeable and can manage an EDS patient's care like I wish mine could.

Because much of this is research I've had to do myself, and I can't just link you to article after article on the topic, this post will be much more "sciency" than previous posts of mine.

So here are some more ways in which Ehlers Danlos Syndrome affects the body.

Bones

Bone density: The EDS specialist I went to referred both myself and my son to get a bone density scan. I didn't understand why, at the time, but looked it up and found that people with certain types of EDS tend to have lower bone density than the norm, and should be regularly checked for osteopenia from a younger age than you'd usually check them. Fortunately, regular exercise helps with bone mineralization, so this can hopefully be avoided with EDS safe exercise.

Breaks: I never broke any bones in my life, because every time I fall or do something to injure myself, my joints and muscles give way instead of bones, which is why I've had more sprains than I can count in my life,. My son, Ike, on the other hand, has broken 7 bones by the age of 14, and his first break was only at 8 or 9, so he's averaged one break a year for the last many years. I would think, therefore, that his tendency to break would mean he doesn'd have EDS, because what do bones have to do with collagen, but I was actually very wrong. It is not just cartilage in the joints made of collagen; your bones are also made with a lot of collagen. So it would make sense that faulty collagen would lead to bones breaking, not just dislocations and sprains. 

It was a little hard to find research on this (and you have no idea how many studies I looked up and read but, in addition to having lower bone density, people with EDS tend to have a higher rate of fractures than the norm. The reasons for this is varied, but one of them is that people with EDS tend to have smaller cortical bone area and thickness, the compact and dense outer layer of your bone, which is what strengthens the bones. Another thing that causes bones to break more easily in people with EDS is that they tend to fall a lot more, because of joint instability. 

Proprioception: But with my son, it wasn't just falls that caused breaks, it was his extremities (toes and fingers) getting hurt because of smashing them into things or dropping dangerous things on them because he didn't realize his toes were there. This, too, is connected to EDS, because people with EDS have worse proprioception, the awareness of where the body is in space. (I also have terrible proprioception and it's part of why I fall a lot, as well.) 

Why is proprioception worse in people with EDS? Well, fascia is a network of connective tissue that surrounds and connects most things in your body, such as muscles, bones, and organs. We have proprioceptors, receptors in the body that detect information about body position and movement, and they communicate with the nerves and brain through the fascial network.  This doesn't work properly in people with EDS because fascia is made up of... you guessed it... collagen. Fortunately, there are ways to help with this, such as physical therapy including repetitive muscle vibration (using various tools) and even using kinesiology tape. This is fascinating and gives me hope that maybe I can improve mine, and maybe my son's as well, so he doesn't break as many bones. 

Spine Curvature: People with EDS often have scoliosis (S shaped spine) or kyphosis (forward curvature of the spine), a different incorrect curvatures of the spine. There's a specific type of EDS called kyphoscoliotic EDS which has both severely, but others can have less severe types. I have kyphosis and 2 of my kids have been diagnosed with scoliosis, though fortunately not severely. The EDS specialist recommended that I do Schroth style PT to help with that, and my physical therapist is helping with that.

Digestive Tract

One of the most common ways EDS affects the body is in the digestive tract. Some studies suggest that between 50% and 90% of people with EDS have gastrointestinal issues!!! Your digestive tract is chock full of connective tissue, and that would explain why these are so prevalent.

GERD: Probably the most common type of GI issues connected with EDS is GERD, when the sphincter at the bottom of the esophagus doesn't work properly and allows stomach acid into the esophagus, which causes heartburn, regurgitation, and chestpain. Over 50% of people diagnosed with hypermobile EDS have GERD according to one study. This is because the sphincter is made up of collagen, specifically the type of collagen that is faulty in hEDS and sometimes in Classical EDS as well. I have GERD, and have been on medication for it for a year, which is great. I didn't have so much burning as much as feeling like I was going to puke, but meds helped that go away.

IBS, irritable bowel syndrome, is also common with EDS, which can cause constipation, diarrhea, nausea, bloating, and gas. Up to 62% of people with hEDS have IBS. I got diagnosed with IBS as a kid, and it is a pain and a half, and is part of the reason I avoid certain foods, because they irritate my already irritable stomach. 

Delayed gastric emptying, with the worst being gastroparesis, partial paralysis of the stomach, with lots of negative symptoms, is also common among people with EDS, but fortunately I am not one of those.

R-CPD Now this last one is not something I've seen any studies on, and never have been officially diagnosed with, because I didn't even know it had a name, or that it was an official thing to even bring up with my doctor. No Burp Syndrome, officially called Retrograde Cricopharyngeus Dysfunction (R-CPD/No Burp Syndrome), is a relatively rare condition in which the cricopharyngeus muscle doesn't relax to allow air to exit the stomach and esophagus, which, as the name makes obvious, makes you unable to burp, something necessary to allow excess air to escape the body. Because of this inability to burp, people with R-CPD have loud gurgling noises, bloating and discomfort, and excessive flatulence. As you can imagine, this is quite irritating. 

I have not seen any studies that connect R-CPD to Ehlers Danlos Syndrome (though I did find a reddit thread on it) but that is understandable because they are both relatively rare, with RCPD even more rare as far as I can tell... but I am including it here because it is quite clear to me that it is connected. Sphincter issues are often related to EDS. GERD is caused by an issue with the lower esophageal sphincter. Delayed gastric emptying, as mentioned above is a common side effect of people with EDS, and is connected to an issue with the Pyloric sphincter at the bottom of the stomach. People with EDS also commonly have issues with the anal sphincter. Sphincters are ring shaped muscles that act like valves throughout your body, and contain connective tissues. The cricopharyngeus muscle has a lot of type I collagen, which patients with Ehlers Danlos Syndrome (specifically hEDS and also classic EDS) make improperly, so according to my logic, this would be a clear cause of it for me, and maybe other people as well. 

Eyes

Eye issues of all types are common with Ehlers Danlos Syndrome because eyes are... you guessed it, built up of connective tissues (80% collagen, if you can imagine). My eyes have been causing me problems for the past few years. I've worn glasses since I was 9, but since I was 12 my prescription had stayed more or less the same, around -2.00 but suddenly at the age of 32 my prescription changed to 3.00/-3.25, and then 4 months later they jumped to 3.5/4.0 in addition to needed reading glasses/progressive lenses at quite a young age (usually presbyopia, having difficulty with close up vision as you age, only starts up at around 40), and every 4-6 months after that my prescription changed and I needed new really expensive progressive lenses again! Now, 4 years later I am over 5.00 and my presbyopia has gotten worse as well. I didn't have an explanation as to why this was happening- my optometrist was flummoxed, and the ophthalmologist I went to was flummoxed as well. 

Kerataconus. However, after going to the EDS specialist, she sent me to an eye specialist who tested me for a few more things and ruled out some serious things, but brought up the possibility of kerataconus, where the cornea (made of collagen) gets more and more misshapen, which can cause eyesite to get rapidly worse, and is a frequent comorbidity of EDS. If I have it, it would be in the early stages, but she wanted me to get tested every 6 months and bring my optometry records over the past few years.

If that isn't the issue, I'm not sure what exactly is causing this, but I'm sure it has something to do with my collagen. But even if I had keratoconus, that doesn't cause presbyopia. 

There is more than one theory about the cause of presbyopia. One is that the lens hardens and thickens as you age, and then cannot change shape as needed to focus on objects close up. Another theory is that it is caused by issues with the ciliary muscle, found behind the iris, which contracts and relaxes to help the lens change shape and bend light rays to focus on the retina to see nearby. The ciliary muscle is made of a lot of collagen... if that stretches out... then it can't properly reshape the iris as needed...

Dry Eyes- Dry Eye Disease is also prevalent in many with Ehlers-Danlos syndrome, especially hEDS. This is because of a dysfunction in the tear film layers, likely because of issues with the tear gland, which are supported by collagen. I've had dry eyes my whole life, and it has caused me pain, and it is why I blink a lot, and it is why, when I wore contact lenses, I had to wear ones for dry eyes. Sometimes my vision is even affected by it, and I need to blink a bunch of times to be able to see clearly.

Ears, Mouth, and Jaw

Why did I lump all these three together? Because they are a system that works together, affects each other, and is connected, and I can't talk about one without the other.

Ear Infections. People with EDS are more likely to get ear infections for various reasons, such as weakened connective tissues compromising the integrity of the mucous membranes structural weakness, making them more susceptible to infection. On top of that, the eustachian tube helps regulate pressure and drain fluid from the ear, and the tissue surrounding it can have structural abnormalities or laxity, leading to impaired functioning of the eustachian tube, leading to fluid buildup and increased risk of infections. Your ear drums are made with a lot of collagen, which means they are more susceptible to bursting in people with EDS, which can contribute to infection, ear pain, or affect hearing.

TMJ. Everyone has a TMJ, which stands for tempera mandibular joint, which is the joint that connects your jaw to your skull. But when people say they have TMJ, they usually mean that they have problems with that joint. Guess what affects that joint? The same as affects any other joint- your cartilage and collagen! If the joints in your ankle or pelvis are hypermobile, so are your TMJ joints, which can cause all sorts of problems. 

People with TMJ issues aren't supposed to chew gum or tough meats or hard things like carrot sticks or other things that require lots of prolonged chewing. This is why I never chew gum (and recently I had some hard rice crispy treats and felt it in my jaw and could immediately feel the damage it was doing). Extra sticky stuff like taffy that make it hard to open and close your mouth put extra strain on that joint. Opening your mouth really wide to take large bites of foods like extra large burgers, for example, also aren't good for these joints. I knew these things caused me pain, but one time the pain didn't go away even after a few days, and I mentioned it to my physical therapist who told me that they are also trained there, and she was able to put my dislocated jaw back into place and the pain was gone.

Painful Ears. Yes, I'm back to ears. I love swimming, and it is very good for my body, and was recommended to me by the EDS specialist as a way to strengthen my muscles to keep my joints in place. But every time I'd go swimming, if I put my ears underwater, over time (after 15 minutes of swimming like that, or maximum up to 30 minutes), I'd be in a lot of pain, and each time I'd put my ears in the water after that it would start again. This really affected my ability to swim. 

While I could swim with my ears out of the water, most swimming with ears out of the water involves arching your lower back somewhat, and since my lower back is the most painful part of my body and the reason I need to go swimming, it would be counter intuitive for me to swim like that. 

I tried using earplugs and they made it so much worse. I realized that the pain was because of the pressure on my ears from the water, and ear plugs just increase the pressure. So when I swim it mostly is water walking and treading water because I can't tolerate the ear pain.

I went to an ENT about a year ago and he said he could tell my throat was all red from GERD; he said because of the connection between the throat and the ears via the eustachian tubes, the irritation in my throat was causing ear pain as well. He put me on meds for that, and now the GERD that wasn't terribly painful is now gone, and I think I might have been able to extend the time I can swim without pain, but I'm not sure. However, even if it did help somewhat, it is still painful and problematic and didn't solve the issue. 

I went back to a different ENT and he said that he had never heard of a connection between GERD and ear pain. He immediately picked up on my TMJ issues when looking in my ear, and said that because of my issues with that joint, there is already extra pressure in my ear, and going underwater puts even more pressure on it, causing the pain. Without my telling him anything about it, he pointed out that cold air also would cause me ear pain (he's absolutely right; I hadn't connected it, but it is the same exact pain as when I swim). 

I'm not 100% sure why TMJ issues cause that pain for me, but Google suggests that it can be any of the following- because TMJ issues can cause eustachian tube issues, muscle inflammation, or nerve irritation, and both water pressure and cold air can exacerbate those issues. The doctor suggested I take Bengay and/or Voltaren and rub it around my ear, along the temporomandibular joint, to relax the area and warm it up before swimming. I haven't tried it yet, to be honest, but it sounds promising, since it actually makes sense, and because he picked up on the cold hurting my ears without my needing to tell him.

Tinnitus: Tinnitus is the perception of sound in one or both ears when there is no external sound is present. It can a ringing, buzzing, humming, roaring, rushing, clicking, etc... It can be caused by so many things, and it isn't so rare (between 10 and 25% of adults). One of the causes of tinnitus is TMJ issues, which is par for the course for someone with EDS, or instability of bones in the inner ear, also an EDS thing, the so it should come as no surprise that lots of people with EDS have tinnitus. I never thought I had tinnitus, because my mother had it when I was younger and she described it as ringing in the ears. Recently, though, (last few months) I've started hearing a rushing sound when I would do a Valsalva maneuver, and then the last week or two when I bend forward it also happens to me. It is very annoying and makes me want to avoid doing anything to cause it. Looking into it, it makes sense that it happens to me then, since POTS can cause tinnitus, and the valsalva maneuver can make POTS symptoms worse, and bending down can also make POTS symptoms worse... I don't know of any specific treatment for this, but knowing the cause certainly is helpful.

Mouths. A high arched palate and crowded teeth is one of the possible diagnostic criteria for hypermobile EDS and it is present in other EDS types as well because the palate forms abnormally because of issues with the palatal shelves because of collagen issues. This is why I ended up needing a palate spreader, not once but twice, when I was a kid, so the orthodontist could make room in my mouth for all my teeth. 

Last time I was at the dentist he pointed out that I had receeding gums and when I mentioned EDS he said that can be a side effect of EDS, because the gums are made of... connective tissues. In fact, there is a specific type of EDS called periodontal EDS whose main symptoms are gum disease. My youngest kid, the one with an official EDS diagnosis, complained to me that her adult teeth felt loose. That was very concerning for me until I looked at her mouth and saw that she also had receeding gums. The dentist told me to use super soft bristled toothbrush and toothpaste for sensitive gums, so I gave that to my daughter as well and its already improving.

Lastly, EDS can also cause tooth anomalies such as high cusps and deep fissures in molars and premolars, abnormally shaped roots, and enamel defects. These all make tooth decay more likely. Unfortunately all my children have been plagued with this, including my son whose tooth literally erupted with spots on his enamel. I thought it was because I ate gluten when I was pregnant with him, but it seems it was actually because of EDS.

Why Does It Matter? 

Why do I care? Why does it matter? Who cares what EDS causes?

Someone, who shall not be named, told me that they feel that I'm obsessed with EDS so that I can victimize myself and not take any responsibility for my issues. In fact, I would say it is precisely the opposite. 

Specifically, because I know about EDS and the various issues it causes, I am able to find out the source of the problem and then I can pursue treatment. Not knowing the cause of an issue makes me spin in circles and not even know what to do about it. That isn't to say that every single EDS symptom can automatically be improved because you know the cause, but for many it can be. 

For example, the swimming issue caused by TMJ. And hopefully, we can find a treatment for some of my eye issues now that we are looking further into them because of the knowledge of what EDS does to eyes. I will ask my physical therapist about doing repetitive muscle vibration to help me with my proprioception issues and maybe also have my son do it. 

But it's not just about myself. It helps me with my kids. Not just physically, but also emotionally. I was shamed and gaslit constantly throughout my life, told that I'm making a big deal out of nothing, that something wasn't actually wrong, that something can't actually be that painful, etc... And this causes a lot of further issues (I have another post planned about that). 2 of my kids deal with chronic pain, and I don't ever tell them they're making a big deal out of nothing. Many people with chronic illnesses and EDS often get PTSD from how much they are disbelieved because of their issues, because you can't see pain just by looking at someone, and I won't do that to my children, especially now that I know something is an actual issue and they aren't "being dramatic."

My youngest, Rose, is the one who dislocates and subluxes the most. (That is why she has the official  EDS diagnosis; she meets all the necessary criteria for an hEDS diagnosis.) If I didn't know about EDS, I wouldn't know how to help her. A few times recently she was just sitting watching a movie and then started screaming and crying in pain, saying that her shoulder/upper arm hurt as much as when she broke it. I knew that even if she hadn't done anything, her hypermobility means she can sublux things even by just moving her arm or rolling over or breathing hard (just like me) and I knew something was actually wrong. 

Because of this, with her permission, I was able to try to solve the issue each time. I tugged on her arm, creating traction with the joint, and moved it around in a few different ways, and then all of a sudden, the pain was gone, since what I did fixed the subluxation or dislocation (I don't know which it was because I didn't take her for x rays, but it honestly doesn't matter).  It hurt her when I did that, but after a minute or so her pain was gone. Knowledge of EDS helped me stop my daughter's pain by fixing what was wrong that was causing the pain.

Who did I write this for? 

Honestly? For me. For you. For people diagnosed with EDS and people who may have EDS but don't know about it. When I was writing it, I learned so much more, because I knew certain things were connected to EDS but didn't know why, so when I was researching the reason EDS affects those issues, I was then able to also do further research to learn how to take care of these issues.

If you have EDS also, maybe you will be able to get help for these issues, now that you know the cause of them.

If you have any or many of these issues but hadn't actually thought about EDS as a possibility, maybe it'll help you pursue a diagnosis, as I did after hearing my friend talk about her EDS, which has allowed me so much improvement in my life. The same goes with your kids, if they show any of these issues.

And lastly, if you don't have any of these issues, learning about them may help you understand more what people are going through, helping you be more empathetic, and not thinking that people are making a big deal out of nothing, even if it appears that way from the outside.

Do you have any of these issues? Do you have an EDS diagnosis? How many of these things did you know were connected to EDS?