It's Rare Disease Day AMAA

How does your condition affect your everyday life? What activities are you not able to do?

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

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?

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!

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?

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.

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?

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!

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.

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?

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.

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.

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.

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.