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Rare disease day

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.

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.

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.

Re: Rare disease day

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.

Re: Rare disease day

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...

Re: Rare disease day

Thu 28 Feb 2019, 11:15 pm

XD I meant as in a normal pain threshold.

/throws a rock anyway just for fun.

Re: Rare disease day

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)

Re: Rare disease day

Thu 30 May 2019, 4:37 pm

I had an MRI in my late 20's for a neck issue, the private Orthopaedic specialist wanted to view all my back and was a little surprised to find I had an extra rib. I also used to get a capitate bone dislocation (I think thats the right one) around that time which is only meant to happen to teenage girls.

How I laughed 8O

Re: Rare disease day

Thu 30 May 2019, 4:54 pm

I do find that weirdly funny! "sorry, you've got teenage girl syndrome!"
Sounds pretty painful though, so my sympathies. Also kudos on having spare ribs, they sound tasty.

One of my family are currently having issues with the school because he's EDS and they are trying to tell his mum that she's making it all up (that fabricated induced illness thing). He's got loads of scans and diagnosis and stuff, but they are like, those are from over a year ago! As if he'll suddenly get better from a genetic condition.

Re: Rare disease day

Thu 30 May 2019, 8:48 pm

Funny enough I was just describing this to my other half as your symptoms sound like her and she just reminded me that her nephew is currently being tested for eds... also has heart issues.

Re: Rare disease day

Fri 31 May 2019, 12:04 pm

I hope you get some information - it's always better to know what you have and how to deal with it better.

Because it's connective tissue it can have various effects throughout the body which can vary wildly in different people.
Sometimes my throat doesn't close properly while I'm chewing and so I have to suddenly choke up whatever was in my mouth! Lol, try explaining that on a first date!!

Autonomic nervous issues of various kinds can happen too, a nephew has sudden vomiting (sorry, wasn't meant to be the theme, it's a different thing to choking, honest) and another relative has serious adrenal issues as his fight or flight response just suddenly gets triggered for no reason at all - it's all very strange and so erratic that diagnosis is difficult and often doesn't happen until much later in life - I've been getting the EDS monthly email newsletter thing, and so many stories are about people who just didn't get any support or acknowledgement until much later in life.

Best of luck

Re: Rare disease day

Mon 17 Jun 2019, 4:49 pm

I'm doing group therapy right now. The clinicians are not great, but the other people with hypermobility stuff are fantastic to talk to. It's just nice to have some understanding and relatable advice.

Interesting that (at least) one of them can hear the noise of the lights in the room - they are really loud but normal people can't hear them.

Similar thing; can anyone see the flicker of some LED lights? It depends on the frequency of the current or something I guess, but we've been talking about it and regular types just see a light but many of us can see the flicker - it is very interesting to me...

Re: Rare disease day

Mon 17 Jun 2019, 10:48 pm

Mane wrote:
Interesting that (at least) one of them can hear the noise of the lights in the room - they are really loud but normal people can't hear them.

Yeah I wouldn't hear them, I have a constant ringing in my ears from my early years working in noisy factories.

Not as bad as my dad though, he spent a good part of his early years inside a copper vessel holding a hammer against the side while the other coppersmith hit it from the outside, without ear protection.

Re: Rare disease day

Tue 18 Jun 2019, 4:22 pm

Wow, talk about having your bell rung! That's pretty crazy.

I really like the newest formula one engines for that reason, they use all the energy to power the car, and don't throw as much away as spare noise; they still require ear protection trackside, but you can picnic nearby with the kids without needing ear defenders. To me that's a really good thing.
Sadly they might be going back to louder engines because a very vocal group of people with bad hearing from years of inefficient engines have campaigned for it.

I don't have a point at all. Other than I'm shocked by your dad's hammeraderie.

It's just interesting to me that some things are supposedly silent (like those lights, or some of the anti-theft barriers in the shops, or whatever) but actually make a pretty unpleasant sound - I wonder if it's the ears or the brain or a combination that picks those up...

Re: Rare disease day

Tue 18 Jun 2019, 10:58 pm

I'd imagine it would have to be the ears, as those barriers don't emit a light that has a frequency the eyes could be picking up that the brain decodes. I wonder if dogs can hear them too? They're supposed to have a wider spectrum than us and we can't hear dog whistles, unless some people can and just think they're just whistles?

It's amazing all the variations of the human brain.body, especially when you consider that a lot of people with symptoms won't realise that they aren't seeing/hearing what other people are.

Re: Rare disease day

Thu 20 Jun 2019, 10:33 am

Brains are weird. My favourite example of neuroplasticity is a thing called Brainport.

I saw it many years ago before it had a name, when it was a massive backpack thing, and the prototypes worked in different ways - but the tongue was the best. It's a device for people who can't see using their eyes, and effectively it plugs a camera into the tongue - the persons brain has to learn how to 'see' using these signals, and it actually remaps the neural pathways of the persons brain to do so - it is incredible what you can teach yourself (or anyone!) to do (or not do) by training the brain to work differently.

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