I Know What I Am

i'm a mutant.

after years of various pains, i finally have a diagnosis: ehlers-danlos syndrome.

not entirely unexpected but still a little surprising. a rheumatologist told me that i was hypermobile last year. i eventually got an appointment down in London last week with professor Rodney Grahame of university college hospital.

the professor spent over an hour with me! Bulbgirl, who accompanied me down south, said that a couple of people in the waiting room were annoyed at the delay. as i had come down from Glasgow the prof must have spent a little extra time with me.

are you aware that there is a hypermobility clinic in Glasgow? he asked me. i'd heard rumour of a pain clinic, but one would have imagined that the rheumatologist i'd seen might have mentioned this little fact. i'm still glad we went down to London and that the leading doctor in this disorder gave me the diagnosis.

even all the experts don't agree. some call it JHS (joint hypermobility syndrome), BJHS (benign joint hypermobility syndrome), EDS, HEDS, HMS, EDS3. it gets all very confusing.

wiki ehlers-danlos sydrome. hypermobility (type 3)

Affects 1 in 10,000 to 15,000 and is caused by an autosomal dominant mechanism. Mutations in either of two separate genes (which are also involved in Vascular EDS and Tenascin-X deficiency EDS, respectively) may lead to this variant; it is the only type of EDS that cannot be diagnosed through skin / tissue samples but is rather diagnosed through use of clinical observations. Symptoms can include easy bruising, velvety-smooth skin, mildly hyperextensible skin, and loose, unstable joints. Joint dislocations and subluxations are common. Degenerative joint disease can occur; the pain associated with this condition is a serious complication. Some individuals have mitral valve prolapse, which creates an increased risk for infective endocarditis during surgery, particularly dental surgery, as well as possibly progressing to a life-threatening degree of severity of the prognosis of mitral valve prolapse.

when telling professor Grahame that my rheumatologist put me on the list for genetic testing, he said but there isn't a genetic test for your type yet. he knew his stuff far more than anyone i've met up until now. i could have talked to him all day.

i love the X-men movies. it's a little unfair that my special mutant power is chronic pain. adamantium claws, or being able to control the weather would be much more fun.