A lot of people seem to have at least heard of Multiple Sclerosis, but very few people seem to know anything about Ehlers-Danlos Syndrome. In fact, quite a few doctors and other medical professionals don’t know what it is. In light of it being “Rare Disease Day” I thought I would post about this. For those who don’t know, I have a mild version of Ehlers-Danlos Syndrome. It is a connective tissue disorder and there are 6 distinct types of EDS: Classical, Hypermobility, Vascular, Kyphoscoliosis, Arthrochalasia, and Dermatosparaxis. (I won’t try to explain all the types but for the curious here’s a link: http://www.ednf.org/eds-types ) It is characterized by a defect in collagen which can result in all kinds of issues; everything from oral/dental issues, joint instability, cardiac complications, hyperelasticity of the skin, gastrointestinal issues, pregnancy complications, bruising, vision problems, wound healing problems, etc. The list goes on and on!
I have the hypermobility version. For me, this means that my joints tend to be “loose” and not real stable. The connective tissues that should be holding the joints in place are lax and therefore, the joints move more than they should. It doesn’t mean I’m a contortionist, but I tend to suffer from joint mobility problems like when I rolled my ankle taking the garbage out last year badly enough that I thought I may have broken something and had to go to ER. I have, in fact, fractured an ankle in 3 places stepping off a horse a few years back, and thought I might’ve done the same darn thing, but luckily it was just the world’s worst sprain! My shoulders are another prime example. When I was about 13 years old, I went to the wave pool with some friends. I came off of one of the slides into a fairly deep pool, and when I went to reach for the ladder, my left shoulder spontaneously dislocated. That was the first of now numerous dislocations and subluxations of my left shoulder. I have had 3 surgeries to try to correct and stabilize it. The first two surgeries were done before we knew I had this disorder, and were fairly standard; The surgeon went in arthroscopically and tightened the connective tissue around the shoulder joint to hold things together. The problem was that within a few years of each attempt, the connective tissue would stretch and my shoulder went right back to dislocating. It was so bad that in High School I could dislocate my shoulder putting on my backpack for school. Before the most recent surgery I would partially dislocate (subluxate) my shoulder 4-5 times a day and have to pop it back in myself. The third surgery involved rebuilding my shoulder socket by moving a piece of bone from my collarbone, screwing it to the front of my shoulder socket (which I had mostly worn out due to the constant subluxations) and then tightening the connective tissue. This was extremely painful to recover from, but it seems to have done the trick. My shoulder hasn’t dislocated in 4 years although it does feel less stable as time goes on and I suspect the only thing really stopping it is the build up of bone reinforcing the shoulder socket.
If you can think of a major joint, I’ve probably had a problem with it. There’s been so many joint-related issues that I’ve dealt with that I’m beginning to lose track. Everything from tendonitis in both wrists, a herniated disc in my lower back, knee problems, ankle instability, inflammation between my ribs, to a severe problem with my jaw that has left me with no cartilage in that joint (and the warning from the oral surgeon that I shouldn’t chew anything so as to reduce the stress on my TM joint), having a connective tissue disorder means being in a lot of pain. Pain management is a way of life for me and I’m one of the lucky ones when it comes to this condition because as bad as I feel, my symptoms are still relatively mild. Things could be a whole lot worse! I do use splints and braces, but I don’t have to rely on them all the time. I can mostly go about my day-to-day with minimal problems. While I do have other non-joint related symptoms like leaky heart valves, stretch marks, livedo reticularis, and easy bruising, they’re not really limiting factors to my life. I mostly just need to be aware of my limitations and try not to injure myself. A lot of folks with EDS have severe complications from cardiac problems (some life-threatening), or such severe joint instability that simply getting dressed is a big effort.
Pain is one of the toughest things to manage with EDS. I am in chronic pain. Every day, all day, something hurts. In fact, most of my body aches most of the time, and some joints are worse than others. Lately I’ve been having a lot of knee and shoulder pain. Pain that keeps me up at night and means I do have to give in and take medication for it which I hate to do. The constant pain is something that the medical field has a hard time relating to and a hard time treating effectively. I have a really high pain tolerance as a result of dealing with pain daily. My physiotherapist used to remark that she couldn’t believe my pain tolerance with some of the acupuncture treatments she would put me through. Having a good support team is essential for someone with EDS. In order to try to avoid more joint problems, I have to almost constantly be in physiotherapy treatments, I often see a massage therapist, have a personal trainer and regular exercise, and I have gone through a battery of medical testing. I have seen more doctors and medical professionals than anyone my age should!
To look at me, you’d never know there was a problem. EDS is mostly an invisible illness. It doesn’t make it less real for those who suffer from it. Having multiple joint problems and chronic pain is very challenging. However, I still make the trek in to attend university, I still manage to look after myself, and our farm chores. I still enjoy riding and yes, being tossed off a horse is probably not the best for me, (and I do what I can to avoid it) but either is living in bubble-wrap! :) There may come a day when I have to give up some of the things I love, but until then I’m not going to let the “what-if’s” stop me from having fun.
Today is Rare Disease Day and if you’re interested in learning more about Ehlers-Danlos Syndrome, I would encourage you to check out some of these links: