Happy Rare Diseases Day!

So, today being Rare Diseases Day, the day for sharing awareness of rare diseases, I thought I’d share some awareness about mine.

All right, what’ve you got?

I have Ehlers-Danlos-HM, also called Joint Hypermobility Syndrome (JHM or JHMS), Ehlers-Danlos Type 3 (EDS-3), Benign Joint Hypermobility (BHS, BHM, BJHM, or BJHS), Chernogubov’s Syndrome, or (memorably) “That pigfucking hyaenabitch from hell”.

What’s that like then?

The headline is right there in the name; HM; Hypermobility. Most of my joints started life being much more bendy than the average person, due to a defecit in my production of some types of collagen. Effectively, where a non-hypermobile person’s ligaments and tendons are steel cable, mine are bungee elastic.

Over the years, repeated injury to the joints can stiffen them up – This has happened noticeably in my lumbar spine, meaning that I can’t even touch my knees with my legs straight, never mind my toes. My hips, elbows, wrists, knees, ankles, digits and cervical spine are still much more bendy than average.

Most of these joints, and many things that the average person wouldn’t think of as a joint (Tempromandibular. Sternothorassic. Sternoclavicular. Intra-pelvis. Coccyx. Carpus.) dislocate. Frequently, and without warning. This is officially called “With or without trauma” – As in, a dislocated shoulder might come from being wrenched or struck, it might happen because I was lying on it wrong, or it might happen because the stars aligned wrong. The stars tend to align wrong dozens of times a day, as I documented earlier.

This also causes pain. Lots of pain. Every joint, every muscle.

After this, there’s the guts; For whatever reason, largely to do with incredibly stretchy collagen being badly calibrated with the stretch receptors in the stomach and other things, I don’t eat very normally. I can feel ravenously hungry, minutes after eating, or I can be about to faint with hunger and not realise that I need to eat. I do literally faint with hunger sometimes, but next to that – Sometimes, no matter how hungry I am, I just can’t eat. This is related to gastropareisis – Sometimes, my guts just don’t move properly; peristalsis stops or slows down to the point that it doesn’t do its job. Closely related to this is the constipation – My colon will sometimes stretch, rather than passing stool, so I get fairly regular and painful impactions. I also get horrifically travel-sick.

After that is the stress; for unknown reasons, zebras tend to process adrenaline unusually. So we can end up very easily stresse and anxious, prone to anxiety attacks, and also prone to depression.

Then there’s the migraines; For whatever reason, EDS-HM is comorbid with migraines. I get them, messily, with the sensory disturbance and photophobia called “aura”. Sometimes I end up aphasic (And can usually communicate in German, French or Japanese again before I can communicate in English, due to the interesting way that the brain works).

Then there’s the bruising; Due to the same terrible collagen being present in the walls of the blood vessels, they burst under the slightest pressure.

Then the scarring; The same bad collagen in the skin makes any damage to the skin heal badly, resulting in papery-looking scars and wide, silver, deeply recessed striae. My skin in-general is translucent all over, and you can see the blood vessels basically everywhere.

Then there’s the fatigue; It’s just exhausting. I get tired incredibly easily, both physically and mentally. Sometimes I just can’t deal with people at all, sometimes I can’t get out of bed.

Then, possibly worst of all, there’s the drug resistance; Lidocaine and related -caine anaesthetics don’t work at all, so any surgery that could be done under a local anaesthetic needs a general one. Due to being unable to explain this to a dentist as a child (And due to having the dental overcrowding typical of EDS) I ended up having six teeth removed with no anaesthetic.

So, what’s the cure?

No, there isn’t one.

Palliative care is as follows;

-Physiotherapy. With exercise. Keep fit, keep a low bodyweight.

-Painkillers. Opiates, and lots of them.

-Laxatives, to keep the gut mobile, with the possibility of tube feeding if matters get worse.

-Surgery, to tighten the ligaments and remove scarring from around the joints. Also the possibility of hip and knee replacements.

How does EDS being rare affect you?

At this point it would be traditional to say “I’m the only person I know that’s got it, or even heard of it, so I feel tremendously lonely.”

Actually, my best friend has it (And we didn’t meet via a support group) and a slack handful of my online friends have it (Also not met through support groups), so I know plenty of people who share the horror and the gallows humour of having ELS (that’s “Exploding Limb Syndrome”).

The big problem is when dealing with new medical professionals – Most of them won’t have seen very many EDS patients in their careers, and won’t know what it is at first. Many of them will underestimate quite how bad it is, since the on-the-box description of “Is very bendy” doesn’t sound very bad.

Finally, EDS being rare means that there aren’t many treatment centres for it in the UK. I was sent to London, which isn’t a trivial trip. When I get inpatient care, it’ll be at the only dedicated inpatient centre for EDS-HM in the country. There is also a complete lack of funding for reasearch, meaning that there’s not a massive amount of hope going around.

And, obviously, laypeople have literally never heard of it. The situation is improving (We have a soap character with EDS now, played by a genuine bendy!) but it’s still more likely to  elicit an “Eh?” than an “Oh, my cousin has that!”

Anything else?

Erm… Not really. Oh, colloquially we’re all “bendies”, which also includes the Marfan’s and Osteogenesis Imperfecta communities (Other things which cause hypermobility), and due to being a rare disease, we also get “zebras” (which fits nicely with the highlighter striae, at least in my case).

Why zebras?

Well, they tell first-year medics; “If you hear hoofbeats, think horses, not zebras.” Meaning, obviously “Always pick the simplest and most common explanation” – It’s Occam’s razor. Sore joints in a fit 20-year-old is probably overtraining. Constipation is probably bad diet. Migraines are probably just migraines. Fatigue and depression are overwork. It’s only when you put them all together, with the stranger, more unusual symptoms that you get the whole picture.

We are the zebras. We are here.


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