Hi. So, really, I should've started this thread earlier, but whatever. Today, February 28th, is World Rare Disease Day 2019. A disease is classed as rare when the incidence rate is 1 in 2000.
I have something called Ehlers-Danlos Syndrome, and the incidence rate, according to the 2017 criteria, is 1 in 5000 for the least rare form of EDS. My doctors are querying which type still (despite being diagnosed in 2012, as having EDS, I haven't had specific genetic testing done yet). The most common form of EDS has no known genetic marker, and so it is a clinical diagnosis only. Some types of EDS have fewer than 80 known cases worldwide, one type has less than 10!
EDS causes my collagen to be defective, which is basically the glue that holds you together. It causes hypermobile joints; dislocations, subluxations; stretchy, fragile, thin, soft skin; local anaesthetic resistance; heart abnormalities; skeletal abnormalities; and the list goes on.
EDS has caused some other conditions for me as well.
Anyway, ask me (almost) anything!