It’s okay, I know what you mean. I’ve thought about that sort of thing a lot and I think it varies to be honest. Sometimes it’s as you describe it, but sometimes it just makes you bitter as fuck and easily irritated by trivialities. It’s also meant I’m in a fairly unique position to be in my twenties never have made any plans - and that has come back to bite me on the arse in as many ways as it’s freed me from a sense of obligation to do this or that. Thanks for your sweet message :}
Hey! It was Rare Disease Day yesterday, which means I get to shamelessly talk about myself (partly so I don’t have to keep explaining to so many people why I’m so useless)! Wahey
When I was a child I was diagnosed with a genetic degenerative disease called Niemann Pick type B - there are under 1000 people diagnosed worldwide. There’s currently no treatment available for NPB - though a trial for a potential treatment is somewhere on the horizon, at the end of an infuriatingly ceaseless travelator of bureaucracy.
In NPB, a genetic mutation stops the body from producing enough of an enzyme called sphingomyelinase, which usually breaks down a lipid in cells called sphingomyelin. As it isn’t broken down, sphingomyelin collects in the cells of organs like the spleen/lungs/liver/brain, gradually causing cell death and the deterioration and malfunction of the involved organs. Each case is variable in symptoms, severity, prognosis etc
So… I have a pretty huge spleen (they call that hepatosplenomegaly). It’s about 6-10x larger than spleens who don’t even lift bro. It’s a bit uncomfortable at times but it’s been that way for most of my life - mostly I get annoyed at medical students being brought round to poke at it whenever I’m in hospital.
More recently, my lungs ain’t so good because buildup has increased there and the barrier of sphingomyelin is a bit of a hindrance to that whole oxygen to blood transference thing, apparently.
Liver seems good though - trusty old liver. I also dun a brain testing assessment last year and they reckon my fatigue means I can’t concentrate, rather than having any brain problems - so hooray!
Generally: I’m increasingly exhausted and I’m generally on a spectrum of feeling naff and shite and I’ve had to get used to gradually being able to do less and less in bit of a painfully slow decline. Walking less far, working less hours, making less plans, living less - and tbh, I think the effect on me mentally is what I hate most. Unfortunately I love to DO THINGS, and it sometimes becomes hard for me to separate doing less from being less (when it’s myself, anyway) and though I joke about it I don’t want to try and veil the truth that it makes me feel sad. When you have to be so far removed from who you want to be, it can be hard to find the corners left of yourself that you think are worth something, and I’ve struggled with that a lot. As much as I’d love that self worth to come from ~within~ and all, the truth is that for the most part it comes from my family, the gorgeous array of spectacular people I get to call friends, and my absolute superhero level boyfriend. Love is the laughter in the face of our mortality, and I fully intend to guffaw all the way to my grave if I have to.
TOTES OUT OF PUFF!
NOW WITH 6-10X MORE SPLEEN! (Oli: “The same spleen, but bicycle pumped up”)
LOVELY LITTLE SPHINGOMYELIN CELLBURSTERS (Á LA ALIEN)!
LOLING SO I DON’T CRY
Y’ALL ARE BODACIOUS
CAN YOU HEAR ME SHOUTING WHEN I TYPE IN CAPS
WHY AM I SHOUTING