Rare disease day

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Rare disease day

Postby Mane » Wed 27 Feb 2019, 10:13 am

Hello Everybody!

The last day in February is International Rare Disease Day! A time to find out about an interesting medical condition, or share your unusual and interesting uniquitude with the world.
https://www.rarediseaseday.org/

I am extremely hypermobile, as are some of my family, I have a slightly different thing, but they have a diagnosis of EDS or an Ehlers-Danlos Syndrome. It usually manifests as a combination of awesome superpowers and debilitating problems, and is a pretty strange mix.

We're generally super flexible, can take falls and impacts that would severely damage a regular human and just dislocate and pop back together like a cartoon (don't try that!), we have crazy fast twitch responses yet lack proprioception, so find it really really difficult to stand on one leg with our eyes shut. We have crazy high pain threshold for high level pain, such as dislocations or even severe compound fracture, things like that. But we sometimes have a very increased response to very low-level pain, for example knocking the back of the hand on a door-handle. (regular person equivalent is a funny-bone impact trauma). Disproportionate pain response. I have a niece who had double acetabular fracture when she was very young (that's leg sockets on the hips) and was walking around saying it felt a bit funny, after a few days of mentioning it felt weird, and her deciding that it was, in fact, painful (and sometimes very!) she was taken for x-rays - the doctor was shocked she'd been walking at all, nevermind happily playing with the other kids!


It's really interesting and not fully understood.
https://www.ehlers-danlos.org/what-is-eds/information-on-eds/all-types/


So learn more about a rare disease (or syndrome in this case, what's the difference? I might try to learn that!)
And share with us your interesting experience with little known medical conditions.
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Re: Rare disease day

Postby Mulletino » Wed 27 Feb 2019, 11:00 pm

Wow! I'd never heard of that before!

I wonder how many people go undiagnosed? I guess it's hard to compare pain thresholds if what you know as normal isn't.
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Re: Rare disease day

Postby Mane » Thu 28 Feb 2019, 10:03 am

I thought I was normal most of my life! Well, ok, not like properly normal, but not so freakish as to deserve all the other kids throwing rocks at me and calling me unnatural...

Sorry, where was I?
Oh, yeah, it's weird - so I used to get in trouble for "playing silly buggers" at school in PE because my knees and elbows dislocate so easily - elbow tendons come out of their groove and the joint collapses if I try a full push-up (on the down bit) - that's an after-class physical punishment.
I had an issue with my knees as a kid whereby slowly walking up stairs would cause dislocation, but running/bouncing was fine! Try explaining that one on a school trip or getting a doctors note for it!

Also pots - postural orthostatic tachycardia, where postural change (like standing up) causes very elevated heart-rate and severe lack of blood to the head, with all the associated symptoms of up to and including g-loc (yay, arcade games!) up until I was an old man I genuinely believed that everyone had that, at least dizziness and sparkly vision every time you change posture, but it turns out they don't! And that conditioning makes me really good at dealing with g-forces because I've been training myself all my life!

You can look at some people and see if they have some hypermobility, but others not so much. I chat to people if I notice they have extra-flexible hands or something like that...
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Re: Rare disease day

Postby Mulletino » Thu 28 Feb 2019, 11:15 pm

XD I meant as in a normal pain threshold.

/throws a rock anyway just for fun.
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Re: Rare disease day

Postby widnesboy » Mon 11 Mar 2019, 2:24 pm

interesting story Mane.

I do quite a lot of work in rare diseases (design/communications work that is, nothing medical, just basic colouring in), so was aware of Ehlers Danlos. So rare that there are a number of cases where doctors don't recognise it or dismiss it as unlikely, and parents and sufferers are accused of Fii (Fabricated or induced illness) or munchausen syndrome. Many instances of kids with Ehlners being taken into care following accusations of abuse.

I do a lot of congress based work trying to get physicians to recognise rare conditions, and am currently doing work in conditions that have maybe 1:1,000,000 occurence, so thats about 200 in the UK. Its a slog when even doctors can't (or sometimes refuse to) recognise conditions, and to treat them is understandably ridiculously expensive (£18k for a bottle of 28 pills anyone?), and even to get the drug companies to invest in them.

So i'm quite an advocate of awareness for rare disease day. (insert comment about dwarfism here)
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