I have known (assumed) for 3 years now that I have a genetic disease called Ehler’s Danlos Syndrome. But a few weeks ago I went into the Brigham & Women’s Adult Genetics Center in Boston to meet with some Genetic Specialists to get my official diagnosis. The appointment was easy, and mostly painless. They took a long verbal and written account of my personal and family medical history followed by a physical exam. I still have an echocardiogram looming, as problems with the heart valves are very prevalent with EDS. I’ll be having that, along with a bone density test done in the next few weeks.
The doctors were very kind and delicate in telling me that I do indeed have EDS. I imagine for people going in blind, being told you have a debilitating hereditary disease with no cure or treatment is devastating.
Luckily, I already knew. And the thing with EDS is – you’re born with it. You’ve lived with the pain and its very apparent that it will be there your whole life. There was no surprise. Still… having it be official does feel different somehow. Though I was 99% sure I had it, moving that number to an absolute 100% does change things slightly. I feel like I am being forced to actually acknowledge that nothing can make it better. And also forced to realize that I can’t ignore it. I do need to protect my body more than I have been.
What most people consider to be one of the serious struggles of EDS is that it is an “invisible illness”. Unless you’re really limping that day, no one can look at you and know there is something wrong with you. It’s hard to be suffering silently. However, for the most part, I think I prefer it. I’m not sure I want everyone to know that things are hard for me. I prefer to be a mostly positive force in the lives of those around me. The hard part, personally, is not feeling helpful. I can’t really help friends move anymore. I can’t lift heavy packages into the house or pile a ton of groceries on my arm. I can’t shop for a long time, or walk a few blocks in the city with my friends. I have to be a burden on other people, which is the last thing I’d ever want!
If you clicked on the link to the EDS foundation above, then you likely read about what it is, and the common symptoms. If you didn’t, the basic gist is that EDS is a connective tissue disorder. Connective tissues being the glue that literally holds your body together – I’m missing that glue! Due to this, my joints are chronically loose and hypermobile. What that means for me specifically is that on a daily basis my joints are subluxating and dislocating. Hips, shoulders, elbows, jaw, knees, toes, fingers, ribs – everything – are constantly coming out of their sockets or just wobbling around in there! Sometimes its very painful, sometimes they just feel loose and I can wiggle them back into place.
Because of the joint problems, this causes severe arthritis, as well as chronic muscle spasms and tears. I have over 60 small tears in my rotator cuff and shoulder muscles! Swiss cheesey! There are a myriad other symptoms like my very poor and degenerating eye sight, dental problems, skin and healing issues, possible heart problems, and all kinds of other things. That connective tissue business? Yeah, it’s EVERYWHERE in the body!
As for the future – its just more of the same. Treatment for EDS is simply just managing the pain. There are no medications that can help with the connective tissues. There will be joint replacement surgeries, for sure, in the future. But I’m going to hold out as long as possible for those. There are splints for some joints that help (I have a few finger ones, they look like rings, so thats cute!), and canes and wheelchairs are always an option.
I’m making this post because a few people were very curious about the condition after I received my diagnosis, and in person, my answers are very minimal. Not because I am uncomfortable talking about it… just that I don’t want them to feel uncomfortable about it.
Anyway, if you’d like to learn more, on an easier & more personal level, here’s some really great videos from other people with EDS.
Bunny Hopkins EDS FAQ : https://www.youtube.com/watch?v=fgMg4nr8q0Y
Rei Haycraft : https://www.youtube.com/watch?v=8Q4juCB2GeU
Kraigisonfire : https://www.youtube.com/watch?v=6Sdn9Xs9yJw
Cheyenne Love : https://www.youtube.com/watch?v=GlO6U4rScmo