My body is not good at making this one thing, but it's random. Some days it makes it great, some days it can't hardly make it at all. So the day the skin of my elbow was made it did a bad job, so that skin just rubbed off, but that doesn't exactly count for all of my skin at once... Every cell(in about 80 percent of my body) has a chance to be made poorly so I can be fairly normal in some places and tissue thin in others. That's why my limp is different every time you see me, I have different joints failing at different times but when it's time to repair a rip, I have that same chance to make it good or bad so it's never the same. Luckily this means a chance I can heal back better than I was before.
The more in-depth look at things:
So I have some form of Ehlers-Danlos Syndrome (EDS for short) this is an incurable connective tissue disorder. Connective tissues are things like elastin and collagen, they make up things like tendons, bone, organs, skin... really effecting about 80% of cells/structures in the body.
EDS has many forms that affect each person differently. The big scary one is vascular(life expectancy 48), the really common one is hypermobility (range of symptoms, normal life expectancy) and there are many more.
As for me, I'm somewhere in the mix. I do not have any of the known vascular gene defects( YAY ). I do have a collagen gene defect that has never been seen before---> Two things with that: 1. The genome is HUGE so that's not that big of a deal. 2. you can't have a diagnosis with out any other cases. There just isn't enough information to know if that defect is or isn't causing my health issues( !frustrating right! ). The Geneticist did confirm that this particular gene does work with the genes that do make the vascular eds, and could definitely have some hypermobility side effects. My defect/mutation fits with what we have been seeing with my health. She made sure to reinforce that we can not confirm this is what is causing my eds but we can't rule it out either, "hopefully we will know more in two years"[small aside: the labs program ran the change and found it to be "probably harmful" for what ever that is worth]. Also everyone repeatedly went over the fact that this has a 50% chance to be passed to children(good thing not having kids was the plan anyway). There have been (only)two papers that talk about people with a defect in the same gene, they ended up having similar, sometime much more sever symptoms(Bethlem Myopathy). So maybe some things to look out for but again, they have a different mutation than I do. What all this genetic info means is: not a lot of real answers.
As for my day to day, I live purposefully. EDS has made me pull back and look at what is important, I try to make what I do really matter. My energy has become so valuable! Because my mussels work all day to hold me together, and my body is constantly healing all the damage that happens, I'm exhausted a lot of the time. This is painful but most days are a lot like having the flu: really achey and tired. Now when things do dislocate(go completely out of place) or subluxate(just go out a bit)the pain is much much worse, mostly because it is pulling or ripping other tendons, and sometimes whatever is out of place can pinch or grind on other things. I'm pretty good a getting things back in place if they go out, but if they just are lose and grinding there is not much besides external reinforcement that you can do. The new annoyance is I have some tendons snapping, like in the arches of my feet an my hands(this fits more with the Bethlem Myopathy than EDS but again unknown mutation). When I do get energy I tend to go a little overboard but these infographs have helped.
Bry and I work on lots of things that help me live a happy normal-ish life. Lots of splints, ace bandages, supports(some homemade), blankets, hot packs, good chairs and shoes all help. If anything gets too bad I have a good doctor that we trust. She understands this is an incurable disease, so is good at helping with quality of life stuff. She is helping me with my weight (less weight on my joints, less stress on them). My heart does some fun things that we are keeping an eye on (I get another halter monitor this week). The best people in my life have made me swear to get an MRI if I have stroke symptoms again. I have little tricks like painting my toenails so I notice if my feet aren't circulating(please let me know if my feet are purple, I don't always notice). Neck pillows for long drives, and a pill organizer because even at home, life is still crazy enough to make me forget if I need to take my pills. So all and all I am blessed to have the love and care I have had so far. Also when we finally get settled at our next place, I'll get a good team of people to look after individual things like physical therapy(which may help but will take years) and a heart specialist ect. Till then I'm still working on the invention, taking classes and crafting and playing lots of video games. WOW is a really good adventure on days I can't leave the house.
So here are my requests
1; Let me vent. I'm going to have some bad days, I need to process this stuff, talking things through can help so much! It's not the end of the world I just need to get it out. Trying to keep all this in can be a poison. Please don't feel like you should have an answer (the doctors don't even have one) just be there confused with me. The Most Important thing you can say is that you're with me! It is so very isolating to not be able to do a lot of things. I have had to give up things like rollercoasters and 5k's and most outdoorsy stuff, but those are things we do as friends so as long as I get to whine about it from time to time with you, I'll be just fine.
2; You don't have to walk slow but I will. If you want to go somewhere with me PLEASE be okay and supporting of my speed or lack there of. I need a cane some days, not always, but I'm definitely not going anywhere fast. This is important in our society, a society that is in such a rush everywhere they go. It's impossible not to hear people's comments about being stuck behind the "slow person", in the grocery store or leaving the theater. People that roll their eyes after they impatiently wave you to cross the street in front of their car when they see you limp. So I guess the term is ableism... I don't know how I feel about the term, but who hasn't heard the phrase "if you don't have your health, you don't have anything" "what, are your legs broken?" and other comments about work ethic relating to one's value as a person... so yah, I'm slow. I'm still working on being okay with that... you can help :)
3; Ask questions! This whole post was brought on by a friend being really concerned that she scratched me(you know when you go to hug someone and it's like everyone has too many limbs and awkward happens). This made me realize I tend to only post the really good or bad things, not necessarily the important things.
4; Don't make me stop! If your concerned about me (awesome I love you too) and really think I should stop/go home/not even try, well I'm not dead! The easiest way for you to think of me and my health/limits is as a rocking 80 year old grandma. I will cook, bake and love you with all my heart. For the most part I can and do take care of myself but if we are out in public, a place to sit is really appreciated.
5: Keep being you! I am a firm believer that all hard is hard! Your hard is important to me, please keep sharing your life. We all are going though things and mine aren't any harder than yours. So thank you for taking the time to read this.
Now just some silly memes and EDS related links
My skins falling off, watch out Bryan!
Just some random eds links feeling odd things
