When Doctors Didn't Tell Me How Serious Ehlers-Danlos Syndrome Really Is

The day I received my diagnosis of Ehlers-Danlos syndrome, I probably breathed out the biggest sigh of relief of my life. After five years of going to specialist after specialist and hearing something along the lines of “hmmm that’s strange, but it doesn’t quite fit anything well” and “wow — those symptoms are so strange — you’re an enigma,” I just wanted some sort of concrete answer. I was hanging on by a thread and taking experimental medication after experimental medication. I was on several strange, doctor prescribed diets, and I had to test my blood and urine regularly to make sure my dangerous medications weren’t shutting down my crucial organs. But all of that seemed minuscule compared to my symptoms.

• What is Ehlers-Danlos Syndrome?
• What Are Common Ehlers-Danlos Syndrome Symptoms?

Things were dire. I was having bouts of paralysis every day. The pain in my back that accompanied those episodes was practically unbearable. My vision was affected every single moment of every day. The world around me was constantly in flux, shifting, pulsing, spinning, and much more. Sometimes the room would stretch wide and suddenly squeeze narrow: in and out like an accordion, accompanied with the feeling of falling backwards. I had double vision, blurred vision, and even the oh so rare and completely nauseating triple vision. 

And then, finally, it happened.

For the first time ever, a doctor said those simple, exciting, and most amazing words in existence. The ones I’d been dreaming of since I was 14 years old: “I know what you have.” Those words were all I needed, and before I even heard what it was, relief washed over me. Finally! Something! A name! Now I know what I’m facing and how to go about it!

I wasn’t afraid to hear what it could be. So many scary thoughts had gone through my head, and I was so very sick. Any diagnosis would do, I just wanted to finally know what was going on! There were days that winter when I disgusted myself, when walking down the hospital hallways past the neurosurgery unit on the way to my neurologists I would feel a pang of jealousy towards the people who needed operations because they knew what was going on and how to potentially correct it. I bitterly wished that I had cancer because I’d already lost my hair and then I’d actually know what was killing me. That is the desperate and terrible mindset that my illness and lack of knowing what it was sent me spiraling into. Thoughts like that made me feel even worse because I don’t believe in comparing maladies and trying to calculate this silly notion of “who’s worse off.” Suffering is suffering, and no matter who they are or what it is, I don’t want anyone to experience it.

Back to that moment in the doctor’s office:

I realized I was holding my breath while I waited for the rheumatologist to continue talking. He told me he suspected Ehlers-Danlos syndrome and then promptly explained why he thought so. He told me there were things I could do for it and that there were medications for the pain. Then he set me up with a referral to a geneticist to confirm my diagnosis and plan my care. Eight months later I finally had my appointment and I got a few more answers, but there were still many unknowns. I wasn’t expecting to hear that we don’t yet know which gene is affected for the type of EDS that I have (hypermobility type). They then gave me a few tips about how to change my lifestyle to make things more manageable. They were all smiles and affirmations and said those things would help me to feel better. Then they told me my neurological symptoms, “could very well be caused by EDS, but we have no way to know, so you should continue working with your neurologists to try and figure that out.”

I am so very grateful I got my EDS diagnosis, but I wish my diagnosing doctors had told me how serious it could be.

They brushed EDS off as something simple, something small; that if I worked hard and did what I was supposed to do, it would barely affect my life. They told me there was no need to be worried, and acted like it was this little thing that would be really easy to maintain.

I don’t know why they did that.

Maybe it was because they saw me as a 20-year-old girl living all alone in a new state, supporting herself while going to school and working a job through major symptoms, and they didn’t want to terrify me. Maybe they were worried about how hard it would be for me to take the news that I have a progressive disorder that has no cure. What they didn’t see was the woman who had been waiting a third of her life for an answer. They didn’t see the person who had already accepted the fact that they had a chronic illness that was probably never going to get better. They didn’t realize that since I had been experiencing such a terribly frightening loss of control over my own body for years, that a name wasn’t going to worry me. A name would finally answer many of the unknowns, and no matter how unpleasant the new truths might be, I was ready to hear it.

If my geneticists did sugar-coat my diagnosis, I wish they hadn’t. Why? Because perhaps then I would’ve taken them more seriously. Sadly I didn’t really do that.

I was told that EDS was this little thing that affected my joints, and if I took a pill a day, the pain would be much better. At the time of my diagnosis, my pain was fairly manageable at only about a three each day on a pain scale of 10. It seemed like a tiny inconvenience compared to the other things I was dealing with, so I saw my EDS diagnosis as a great way to push aside that annoyance of pain and focus on the terrifying and unknown entity causing my neurological symptoms. Yes, EDS explained many strange occurrences of my past (dislocations, never healing tendonitis, torn ligaments, heart troubles/POTS, autonomic dysfunction, etc.), but the explanations I was given didn’t elucidate any of the weird symptoms that dominated my present and made my future extremely unclear. Because of this, as well as the seeming nonchalance that my doctors addressed it with, I assumed EDS was like my hypothyroidism – something that could be controlled and managed by simply taking a pill every day. Something that I barely needed to think about. And that was so very wrong.

I finally had a name for my illness, but my diagnosis led to no actual change in my care.

OK, so I did make a few changes: I got finger splints and was so very happy with how much easier and less painful they made writing for me. I tried to be more aware of how I was standing or sitting. But other than that I didn’t bat an eye about it. My geneticists told me that eventually many of my joints would break down and be badly damaged, but they made it sound like that would happen until sometime far off in the future. They made it sound like it would be gradual, and something I wouldn’t deal with until I was 40 or 50. So at 23, when suddenly all of my joints practically disintegrated at exactly the same time and pain dominated my life, I was shocked and confused. And then I once again learned how to deal with it.

But now I’m frustrated.

I’m frustrated at the system for not truly educating me about my illness and not offering me the answer and care that I needed. Unfortunately that is not the main source of my frustration; most of it is directed inward. I feel like I shouldn’t have been blind-sided like that. I feel ignorant and foolish. It’s hard not to blame myself and say that I brought it upon myself because I didn’t take many preventative measures.

I also feel ignorant because about three years after I got diagnosed, it became obvious that EDS is the cause of all of my weird neurological symptoms, even though several neurologists pretty much brushed aside my EDS diagnosis and assured me it wasn’t playing a role in the symptoms I was seeing them for. It turns out my spine itself was so hypermobile that I was damaging my spinal cord with each slip and slide of my vertebrae. On top of the pain of my joints, suddenly I was extremely weak, my legs were terribly heavy and I could barely move them. Just sitting for more than five minutes was extremely painful, made me very dizzy, and drained every ounce of energy from me. Eating was an ordeal: my hands hurt so bad I could not cut my food and could barely hold a fork. My jaw was so unstable that it would dislocate more than 15 times a day (and still does). My back would hurt so badly and I would get dizzier and weaker as I ate. Oftentimes I had to eat lying on my side because my body couldn’t handle the stress of doing it sitting up. 

My EDS is what it is, and I feel like I mostly understand it now. There will always be struggles, but now I know how to better combat them. That doesn’t stop me from wishing I knew it was all connected when I was diagnosed. I wish that someone told me that there were other people out there with EDS that had neurological involvement and issues beyond POTS and autonomic dysfunction. That craniocervical instability, Chiari malformation, mast cell activation disorder, gastroparesis and so many other issues often come along for the roller coaster ride that is life with EDS. But I didn’t know that at first. I started to see my diagnosis as just something I could tell others when they were curious and wanted something concrete to help them understand. I said that EDS was nothing, and that it just means that my joints are super stretchy. Looking back, that causes me so much sadness and anger. EDS is the exact opposite of nothing. It has affected everything in my life. But my doctors would shrug it off, so I started to shrug it off. And in doing so I added to this cycle of lack of awareness and understanding of my illness that leads to mistreatment.

So, to sum things up after all of these thoughts and feelings and contemplations, I’ve made a list of seven things I wish my doctors told me when they said I had EDS. Here they are:

1. EDS can include neurological involvement because of spinal instability and how that affects spinal cord and brain function.

2. I should take physical therapy very seriously and it’s pretty much the only way to slow my progression of EDS. It also has the added perk of helping with pain and even the management of other symptoms.

3. My EDS is not something that can be controlled by medications, even though some medications can be used to help ease some of the pain and other symptoms.

4. EDS is something to be taken seriously and it can affect all my body systems.

5. There are many tools that can help make things better. There is no need to be afraid to try something new, or even turn something down that doesn’t work. Networking with other EDS patients and doctors to discover these tools is very helpful. [I particularly like to use compression clothing, braces (the use of these has to be carefully thought out, as sometimes overuse can cause issues), and ergonomic tools and helpers (like key turners, special pens, cushions, a gadget to tip over and pour your milk instead of lifting the carton, etc.)]

6. Living with EDS will be trying and exhausting, and it will be difficult to find doctors that know, understand, and can properly treat EDS.

7. No matter how hard it is, you can do this! There are other people that understand and care about you, and you are not alone!