Ehlers-Danlos Syndrome: A Special Post

Hello! This is a different type of post. I am not sharing a craft project today. Instead, I am going to tell you about my journey to finding out that I have Ehlers-Danlos Syndrome. If this isn’t something that interests you, that’s totally cool, and I get it. I’ll have another crafty post up soon. This post is really meant to share that getting diagnosed with some things (even beyond Ehlers-Danlos Syndrome) can be difficult and frustrating. You are not alone if you have been dealing with physical problems and can’t get answers. Here’s my story.

2 years ago in December of 2019, I opened up about a surgery I had gotten for urinary leakage issues and a slightly prolapsed bladder. I was only 41 at the time. This type of thing is usually taboo to talk about, but I think it’s so important for the population’s health and well-being to normalize these types of conversations. I am nothing if not honest…often to a fault. My name, Alison, actually means “little truthful one.” So today I have a new story to tell, which actually ties in to the older one from 2019. 

For about 14 years I have been on a quest. A quest to figure out why I was dealing with some of the things my body was going through. And during this quest, I found out very little information. I’ve always had certain physical issues…super bendy, certain hand grips (like the pincer hold) are insanely painful, joints cracking and popping frequently, among other things. I never really associated them as being weird (though I do distinctly recall telling my dental hygienist that my jaw always popped and cracked painfully), until I found out that it wasn’t normal to deal with a lot of these things. I was dealing with severe cramping every morning for months on end. I was feeling weak and tired all the time. There were times I couldn’t walk for very long because my legs just couldn’t move anymore. My body hurts all over when there’s a drop in the barometric pressure. Brain fog… It’s a long list of things that goes well beyond what I have mentioned here. None of them really seemed to be connected, all of them terrible and frustrating. 

The worst part? Doctors had no clue on how to treat me. Test after test, all coming back negative. Putting me on meds for things that “may” help with something, but didn’t do a damn thing except perhaps make me sick. I was treated for Lymes Disease when I never actually had it. I went through months of removing certain categories from my diet to prove nothing more than Alison not having cheese and bread makes for a very pissed off Alison.

“We don’t see anything wrong with you.” “Everything is coming back negative, you should be happy.” “You just need to lose weight.” These are just a sampling of things I have heard over the years. No one knew what to do. My symptoms were constantly shifting, pain would be in one area then move to another, some foods were great to eat for months, then my stomach couldn’t handle them anymore. My hands would get so swollen I couldn’t even hold a cup properly. Imagine the frustration of feeling so many things, but everyone either thinks you’re “fine” or that they have no further ideas on how to test you. I am betting that some of you have had this happen. You may still be dealing with it now.

I started doing some research on my own. Reading articles and medical information. Talking to friends about things they are dealing with medically. Trying to make sense of something….even if it wasn’t everything. I can’t recall the exact order of events (again, brain fog), but a friend of mine from online mentioned Ehlers-Danlos Syndrome (EDS), which is something she herself is living with. This friend and I wound up meeting in person in 2019, and she went through the physical tests, or the Beighton Score with me and thought that I did, in fact, appear to have EDS. Many of the symptoms made sense to me, but I didn’t want to get my “hopes” up about a possible diagnosis until I was tested. Again. Fibromyalgia was another possibility, but it didn’t quite seem to fit me. 

Ehlers-Danlos Syndrome is a connective tissue disorder that can affect the entire body, primarily the skin, joints, and blood vessels. It is a genetic disorder. People with EDS have faulty collagen, which is essentially the thing that holds your body together. There are over a dozen types of EDS, and no two people with EDS present the same way.  Some of the many symptoms folks with Ehlers-Danlos Syndrome have are hypermobility, IBS, subluxations, dysautonomia, flat feet, velvety skin, osteoporosis, brain fog, and fatigue. There is no cure for EDS, and no real tried and true treatments, since there is still a lot to be learned about it, and symptoms present differently in everyone.

I spoke with my rheumatologist shortly thereafter about Ehlers-Danlos Syndrome, after she had been testing me for months and came up with nothing. She said she thought I had it, but, “why bother getting tested for it if there’s no cure?” Because then at the very least I would know. I could figure out how to live my life. The very thought that this woman didn’t know why I would want concrete answers (even if there is no cure) was infuriating. I never went back to see her. 

I’m leaving out quite a bit of info because this could easily turn into a novel. I’m trying to give you the most important points so that you know where I’m coming from, and can understand how my eventual (partial) diagnosis came to be. In addition, if you are basically hitting a brick wall with your doctors, I need you to understand that you are not alone, and that there is nothing more important than self-advocacy. I have fired many doctors over the years, and I don’t regret it at all. I bring a list of 19 things I am dealing with at any given day and I make sure all of these doctors read that list. 

I went to see a geneticist who only did a few minor tests. We didn’t run all the bloodwork for EDS testing because of an insurance thing. He didn’t seem to be totally convinced I had a type of EDS, but he didn’t shut the idea down either. He threw a couple of big words into his report, indicating that more testing should be done. I left there feeling pretty deflated, as I really had hopes of getting a diagnosis in that visit or at my follow-up. 

In the summer of 2021, I saw a new rheumatologist. She ran tests. All negative. Surprise, surprise. She indicated that she thought it was fibromyalgia. I told her I disagreed, and why. She insisted that I should read about it further, and recommended a book. I read the book that week. Some things overlapped with my conditions, but many things did not. I wasn’t convinced. Fibromyalgia, unfortunately, is often used as a blanket statement by doctors when they don’t have anything better to call your situation. It’s not a denial of problems, but they’ve sometimes run out of ideas or diagnosis that fit. So it becomes fibro. I am not demeaning anyone that has gotten this as a diagnosis, nor am I implying that you don’t have it. I am simply saying that from what I have seen, and heard (an example to follow), fibromyalgia is not always the right or best answer. And it didn’t seem to fit me.

I went to see a neurologist shortly after seeing the new rheumatologist. I had waited months for this appointment. The one I used to see had retired. This doctor has been known to diagnose Ehlers-Danlos Syndrome, so I wanted to see what his thoughts were. I brought my 19 point list. I told him about the fibromyalgia diagnosis (to which he said, and I quote, “is a bullshit diagnosis”). He then said, “there’s this thing called Ehlers-Danlos Syndrome…” Cue the tears. Like, full on, totally embarrassing tears. I don’t even know where they came from. I think the fact that he, this new-to-me doctor brought up the one thing I had suspected I had for years, without me uttering a word about it, finally broke the weights I had been feeling for so long. We went through some physical tests right then and there and he confirmed it. Now, we didn’t at this point get down to which sub-type I had, but he was leaning towards at the very least a diagnosis of Hypermobile Ehlers Danlos Syndrome, or hEDS, although technically I didn’t meet some of the criteria for that. He explained that just because some doctors somewhere decided that “these points” were the criteria, doesn’t mean that other points don’t also fit the criteria. Many people with hEDS cannot do all of the things on the Beighton Scale, but that doesn’t make them have it any less. 

I went back to the rheumatoligist for a follow-up and told her my feelings about the fibromyalgia diagnosis and the EDS diagnosis. She contemplated this for a bit and agreed that EDS appeared to be a better assessment. She also agreed that some of the things I had been doing, physical therapy, lidocaine shots and patches, seemed to be helping some of my pain. 

My second appointment with the neurologist resulted in connecting the dots on many points. The urinary leakage and slight prolapse, for one. Why the births of my children were so quick. Why I have always been so bendy. Why my joints crack and pop constantly. Why it feels like every time I take a step it feels as if boards are smacking my feet. There’s again, a very long list and it’s all related to connective tissue and faulty collagen. In addition, he ordered a DNA test that would rule out 2 of types of EDS. One of which I was rather concerned about, and while he didn’t think I had it, he felt it was extremely important to put my mind at ease and rule it out. I am happy to say that these tests came back negative for the Vascular and Classical types, and I am relieved. 

At this point, I am considered to be on the Ehlers-Danlos Syndrome spectrum, I have hEDS or Hypermobile Spectrum Disorder and I have Dysautonomia. We’re working on a few different things to see if any of them help my current state of discomfort. I have to learn to slow down, not push my body, and rest. These are not easy things for me to do. But I am trying.

So why am I telling you all of this? Because I know how crappy it is to feel like you’re going crazy when you tell doctors your problems and everything comes up negative. Because I am guessing that some of you may have a hereditary disease and not know it. Because I want you to know that you must self-advocate for yourself at your doctor appointments. And if you can’t do it, bring someone who can. I need you to know that there is an answer out there, it just may take years to get it. You aren’t crazy. You deserve answers. You can find new doctors. Do some preliminary research for yourself. Write lists. 

I am feeling so much better now that I am on the road to getting answers. Do I still need more information? Sure. Are there going to be more tests? Probably. But at least for now, I can continue to do some of my own research and learn what my body should and should not be doing, as well as following up with my doctors on what my next steps should be. And while there’s no cure, I can do various things to make sure I can continue to live my life as actively, and as pain free/less as possible. 

If you’ve gotten this far, thank you. Thank you for reading this. I am really hoping that at least 1 of you learn to self-advocate, conduct research, and hopefully get answers. I’ll have additional information in the future, but for now, if you suspect Ehlers-Danlos Syndrome could be something you are dealing with, please check out these websites.
The Ehlers-Danlos Society
Ehlers-Danlos Support UK