It's Rare Disease Day AMAA Watch

Pathway
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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!
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UWS
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How does your condition affect your everyday life? What activities are you not able to do?
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CoolCavy
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Glad there is some sort of day for this
awareness for stuff that isnt cancer/heart disease/diabetes etc is absolutely shocking, hopefully this ama will help enlighten some people :hugs:
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(Original post by UWS)
How does your condition affect your everyday life? What activities are you not able to do?
Most things are affected for one reason or another. I can't do a lot of things as my joints are very loose due to repeated dislocations, I can't open cans of drink without dislocating my finger tips, can't play games with controllers now because my thumbs come out, I can't walk without a brace that goes from the middle of my thigh down to my ankle (people call it my robo-leg, lol), can't change clothes without dislocating my shoulder, etc.

The other problems EDS has caused also limit me greatly, but that is a different can of worms. Lol.
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(Original post by CoolCavy)
Glad there is some sort of day for this
awareness for stuff that isnt cancer/heart disease/diabetes etc is absolutely shocking, hopefully this ama will help enlighten some people :hugs:
Thank you. :console: Won't let me rep, ha.
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Is there anything you have learned through having this or any misconceptions people often have (or silly things they do) about you/ your condition that you would like to share?
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(Original post by Kindred)
PRSOM
Is there anything you have learned through having this or any misconceptions people often have (or silly things they do) about you/ your condition that you would like to share?
Umm. Doctors who don't know about EDS make me laugh when they tell me it's impossible to dislocate things as easily as I do, so I used to dislocate something (usually shoulder) fully in front of them whilst giving them direct eye contact (and I hate eye contact ftr because I have anxiety), and then they go white as a sheet. I don't do this now because my joints are so damaged I would rather not (plus I don't want the extra pain haha). Don't need to do this now because it's well documented.

That or when professionals say it's not painful to dislocate things. Idk what planet they live on, but dislocations still hurt even if you get them regularly. It's like saying if you break your bones a lot because you have osteoporosis or osteogenesis imperfecta that you don't feel pain from them breaking. It's illogical.

Or when people see my hands and are like "what did you do to them?" or ask me if I've been in an accident and then they don't accept my answer that my hands have always been messed up. :lol: Actually, they're partly why my diagnosis didn't take too long when we were actively searching for it, on average it takes ten years, for me it was less than a year.
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Ciel.
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(Original post by Pathway)
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!
Googled it and the first thing Google showed me was this 'hypermobility in the wrist and thumb' picture. I can do that with my wrist and thumb, too, lol. So I suppose people who don't have EDS can experience some symptoms of it, too? Is that because of collagen levels?
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-Eirlys-
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I also have EDS & POTs! I think EDS is more common than they say, it's just largely undiagnosed/not seen as a problem for people!
(Original post by Pathway)
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!
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-Eirlys-
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It's quite complicated. I can't do the thumb to wrist thing, but nearly all of my other joints are hypermobile such as my wrists, knees, ankles, elbows etc. and I've had a dislocation and partial dislocations in the past. I've also had a hernia, I have chronic heartburn/acid reflux, jaw problems, joint clickiness, bowel issues and I got diagnosed with POTs because my veins are stretchy! It is usually a combination of symptoms that leads to a diagnosis, not just one or two hypermobile joints. You can have hypermobile joints syndrome, where your joints are hypermobile, but when you're having other health conditions that are linked to the structure of your body, then it shows it's more systemic and that indicates that there's more to it.
(Original post by Ciel.)
Googled it and the first thing Google showed me was this 'hypermobility in the wrist and thumb' picture. I can do that with my wrist and thumb, too, lol. So I suppose people who don't have EDS can experience some symptoms of it, too? Is that because of collagen levels?
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My son has minimal change disease. Several hospitals failed to diagnose it ( think rare in adults), until Addenbrookes said we know what it is, but it`s too late so we will just try to make you comfortable. But the treatment finally worked. Now he has to take loads of tablets morning and night. He is still to ill to return to uni.
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Ciel.
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(Original post by hannxm)
It's quite complicated. I can't do the thumb to wrist thing, but nearly all of my other joints are hypermobile such as my wrists, knees, ankles, elbows etc. and I've had a dislocation and partial dislocations in the past. I've also had a hernia, I have chronic heartburn/acid reflux, jaw problems, joint clickiness, bowel issues and I got diagnosed with POTs because my veins are stretchy! It is usually a combination of symptoms that leads to a diagnosis, not just one or two hypermobile joints. You can have hypermobile joints syndrome, where your joints are hypermobile, but when you're having other health conditions that are linked to the structure of your body, then it shows it's more systemic and that indicates that there's more to it.
Ohh, I see, that's quite interesting.
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Pachuco
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Thanks for posting this thread 😺

Are there any misconceptions about EDS that annoy you or that you'd like to mention?

And... what is your favourite kind of ice cream?
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Pathway
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(Original post by Ciel.)
Googled it and the first thing Google showed me was this 'hypermobility in the wrist and thumb' picture. I can do that with my wrist and thumb, too, lol. So I suppose people who don't have EDS can experience some symptoms of it, too? Is that because of collagen levels?
Like hannxm said, it's not unusual to have a hypermobile joint (or a few, or even "pass" the Beighton test), the hypermobility alone won't be a cause for concern. As an example, most young children can contort their bodies into weird shapes, and no one bats an eyelid, because hypermobility is common in young children. It gets to be a problem if you have other issues (like mast cell problems, heart issues, GI problems, hearing/sight problems, pain, dislocations/subluxations, fatigue, etc.)
(Original post by hannxm)
I also have EDS & POTs! I think EDS is more common than they say, it's just largely undiagnosed/not seen as a problem for people!
True! But going by what the consortium said, EDS is rare still (including hEDS, which is why the criteria is so strict now), HSDs aren't rare though. :dontknow:

Nice to see another EDS patient! I'm not diagnosed with POTS, my current diagnosis for that sort of area is "autonomic dysregulation with tachycardia/hypotension and possible slow gastrointestinal transit" - will find out more in the coming months, kinda wanna just continue to shove my head in the sand though. Have you been checked for mast cell issues? I have MCAS.

(Original post by Matureb)
My son has minimal change disease. Several hospitals failed to diagnose it ( think rare in adults), until Addenbrookes said we know what it is, but it`s too late so we will just try to make you comfortable. But the treatment finally worked. Now he has to take loads of tablets morning and night. He is still to ill to return to uni.
That's awful. I'm glad things are finally looking up. Do you know when he may be able to return to university?
(Original post by Pachuco)
Thanks for posting this thread 😺

Are there any misconceptions about EDS that annoy you or that you'd like to mention?

And... what is your favourite kind of ice cream?
Probably that we aren't all contortionists and that we don't have skin that stretches inches from our bodies (necessarily) lol.

Iranian Ice Cream.
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Ciel.
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(Original post by Pathway)
Like hannxm said, it's not unusual to have a hypermobile joint (or a few, or even "pass" the Beighton test), the hypermobility alone won't be a cause for concern. As an example, most young children can contort their bodies into weird shapes, and no one bats an eyelid, because hypermobility is common in young children. It gets to be a problem if you have other issues (like mast cell problems, heart issues, GI problems, hearing/sight problems, pain, dislocations/subluxations, fatigue, etc.)

True! But going by what the consortium said, EDS is rare still (including hEDS, which is why the criteria is so strict now), HSDs aren't rare though. :dontknow:

Nice to see another EDS patient! I'm not diagnosed with POTS, my current diagnosis for that sort of area is "autonomic dysregulation with tachycardia/hypotension and possible slow gastrointestinal transit" - will find out more in the coming months, kinda wanna just continue to shove my head in the sand though. Have you been checked for mast cell issues? I have MCAS.


That's awful. I'm glad things are finally looking up. Do you know when he may be able to return to university?

Probably that we aren't all contortionists and that we don't have skin that stretches inches from our bodies (necessarily) lol.

Iranian Ice Cream.
Yeah, that makes sense. : )
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-Eirlys-
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(Original post by Pathway)
True! But going by what the consortium said, EDS is rare still (including hEDS, which is why the criteria is so strict now), HSDs aren't rare though. :dontknow:

Nice to see another EDS patient! I'm not diagnosed with POTS, my current diagnosis for that sort of area is "autonomic dysregulation with tachycardia/hypotension and possible slow gastrointestinal transit" - will find out more in the coming months, kinda wanna just continue to shove my head in the sand though. Have you been checked for mast cell issues? I have MCAS.

Yeah doctors view it as rare and the EDS society in the UK consider it rare too, but I think it's more common than we think, just people are going without a diagnosis or not realising there is something wrong. I haven't been checked for mast cell issues but I have an autoimmune disorder and have had other issues related to my immune system but they don't know what's going on.
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(Original post by hannxm)
Yeah doctors view it as rare and the EDS society in the UK consider it rare too, but I think it's more common than we think, just people are going without a diagnosis or not realising there is something wrong. I haven't been checked for mast cell issues but I have an autoimmune disorder and have had other issues related to my immune system but they don't know what's going on.
Agreed.

It's worth getting checked out for mast cell issues, I have autoimmune problems too and they're all linked. Actually, when I went to St. Thomas' in London they did test autoimmune stuff, IgE levels (aka true allergies) and the other immunoglobulins (aka to test for subclass deficiencies), along side mast cell stuff like tryptase and whatever. Very thorough. If you do think something might be going on it might be worth going there. They're the national referral centre for Mastocytosis so they're super up to date and also understand about EDS and associated stuff like dysautonomia and gastroparesis/intestinal dysmotility, etc. They even talk to my other specialists as well about treatments and stuff because I'm very sensitive to medication (not that my psychiatrist seems to care or take on board anything...but the other specialists do lol...so that's something).

Since treating the MCAS though so much stuff has improved, especially the random angioedema attacks (fragile skin + swelling = splitting). I'd say get checked for MC stuff if you feel able to.
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