i wasn’t planning on writing anything myself related to disability awareness month at first -- but rn the pain is keeping me up and i can’t sleep, so hey, let’s turn this into something productive, yknow? watch me deploy my little ted talk on this one case i have been diagnosed with what’s called an ehler-danlos syndrome (eds) -- aka an gene-related rare disease (diseases, actually, eds are an heterogeneous mess), that are mostly related to a malfunction in the collagen synthesis in the organism. and since that’s something that’s just spread everywhere in your body, well, the entire body’s a mess, to say the least. eds are divided in two big groups — vascular and non-vascular ones (which then both are subdivided in a billion other groups but hey). i happen to have the second one, so i won’t extend too much on the vascular eds case, since i’m everything but an expert on it. basically, the most common symptom is joint hypermobility, but the disease extends to an overall elasticity in the body, such as elastic skin (and the bad healing abilities that go with it), severe myopia, vascular issues, osteoarthritis, and many many other stuff. since it affects so many things in the body, it is really hard to diagnose -- many family physicians don’t know much of it (since it’s a rare disease), and specialists will only focus on the one issue that’s associated to their given practice. i, for one, have only been diagnosed a very few months ago, so in my mid-twenties. from what i’ve heard, it’s sadly most often at my age that the diagnoses are made. so far, there is no cure that exist against it -- gene therapy experimental procedures are developed but well, that’s experimental. aside from that, it’s something you can live with -- with adapted care, most of the sed-affected people can live pretty normally. the worst thing about it, tho, is well, that is worsens. as a child, i used to sit in an inadequate position, which resulted in me having a tibial torsion (so yep, one of my legs is slightly bent inwards and gives me an aesthetically weird way to walk, but it’s not painful or anything -- i’m just the worst runner you could ever find because anatomically i’m not uh optimized?). as a child, again, i shew the first signs of joint hypermobility: first with my elbow being able to - i don’t even know how to describe it - twist unnaturally? it was an natural position for me when relying on a table or whatever, tho, seemed more confortable than resting in a human-elbow-way. (plus, it was sO funny showing to the other kids to make them scream in horror -- this, and twisting my fingers or hands in whatever position you could imagine). then i went through my growth spurt, and things were a little less funny — i was waking up at night with excruciating pains in the limbs that i just couldn’t bear and took me to the hospital a few times because it was just too much. i was told back then that i was normal for a kid to have a little pain during growth spurt -- a little, why not, but in amounts that wake the kids up at night and cause them so much hurt? it’s a red flag, and parents should pay attention to it -- cause maybe it’s nothing, just a little painful growth, maybe it hides something else. and then things only went down, worse and worse, since my teenage years. i used to practice many sports -- now there’s not much i can do without hurting myself. my joint hypermobility has reached massive levels, especially on the shoulders, that i just dislocate on a daily basis (let’s not mention the fact that i somehow managed to build a muscle to dislocate it on purpose if i want to -- yay). most of the time, it’s okay, and not painful (once, i fell badly while horse riding, and just put my shoulder back into place like it was nothing -- because i’m just so used to it) — but sometimes it is. people find it funny when it tell them that i once dislocated a shoulder while sleeping ; it was not funny that i had to bear through the pain and couldn’t lift the arm for several days. it had quite reached a status quo for a while -- before i’ve started having chronic pains in the limbs a few months ago (kinda the same ones as i had during growth spurt, actually)(and the one that’s not letting me sleep rn), that last for entire days without anything succeeding in appeasing it. now, i don’t know what’ll happen in the future, and so far, i think of myself as a lucky one -- in the everyday life, it’s just something i’ve gotten used to, and i’m able to live normally with it, without needing any extra care, apart from a few physical therapy sessions, and some medication that i have to take. this is something serious, however, and some people’s lives are terrible due to eds. a friend of mine has it too, and so does her mom (hereditary disease, remember), and the mom needs a wheeling chair for almost everything because walking causes her atrocious pain and well -- she can’t walk anymore. maybe that’ll be my case, hopefully not ; doesn’t change anything to the fact that people are suffering from it all over the world. and well, i think i’ve finished the horrendously long ted talk -- just wanted to spread a little awareness about this one disease. if you know of people that have a bunch of symptoms that kinda resemble those, do not hesitate informing yourself more in detail about it and try to get a diagnosis! in case of eds, the earlier the diagnosis is made, the better the care and the better the life afterwards
