This post has been rattling around in my head for a while, and unless I do some major editing before I publish it, it may come out like a bit of a stream of consciousness.
I’ve been tweeting quite a lot recently about a chronic illness I have. It goes by several different names – joint hypermobility syndrome and Ehlers-Danlos syndrome (commonly abbreviated to EDS) are the most well-known names for it.
What it means in very basic terms is that my collagen – the glue that holds the parts of our bodies together – doesn’t work properly. It results in very flexible joints, velvety-soft skin and the ability to do some really weird party tricks.
“But surely that’s great?!” I hear you say. “As diseases go, I’d love to have one that makes me a soft-skinned gymnast with a great party trick!”.
Unfortunately, it also comes with regular, frequent dislocations and subluxations of joints, causing pain (and muscle damage if they’re left out of place for too long). The velvety skin gets stretch marks in weird places (inner thighs, chest and under arms, anyone?), doesn’t recover from scars very well, bruises easily and is very sensitive. The party tricks are the reason I’m at increased risk of arthritis and needing knees and hips replaced down the line.
Not to mention postural orthostatic tachycardia syndrome (where something as simple as standing up can make you very dizzy and prone to passing out), bowel dysfunction ranging from mild to severe including IBS and, rarely, the risk of the bowel perforating or folding in on itself (remember all the complaining I did about my scar when I was pregnant? Well, that’s what the scar is from…), local anaesthetics not working properly, heart murmurs, headaches caused by spinal fluid pooling at the base of the skull… need I go on?
I have to have regular physio for my joints. During an EDS flare up, subluxations happen every few minutes, dislocations once or twice a day. Thankfully the vast majority of these I can pop back in with minimal drama, as they usually affect my hands, ankles or – at worst – my shoulder. Sometimes my ribs slip out, which is really bloody painful. Sometimes – as with my knee recently – I pop them back in, but it doesn’t go all the way in, or I’ve left it too long, and it damages the ligaments and tendons, causing weeks of pain.
EDS/JHS is an invisible condition. It’s a nightmare to get diagnosed and an even bigger nightmare to get treatment, but the toughest part? Telling other people that you have it. They look at you like they’ve made it up, or tell you that you’re “just double jointed”, or say “There’s always something wrong with you”.
We call ourselves zebras, because – in medical terminology – that’s what we are. Doctors are told in training, “When you hear hoofbeats, assume it’s horses, not zebras”. Because EDS is rare, doctors will look for the more common, individual causes of symptoms – hypermobile joints, IBS, migraines and so on – rather than putting it all together and seeing that actually, some patients are zebras, and need to be treated as such. The problem with hearing hoofbeats and assuming horses is that doctors have a tendency to forget zebras even exist.
I’ve always tried my hardest not to let it rule my life. I can pop back all subluxations and most dislocations by myself or with Daf’s help. I take a lot of tablets every day to deal with the symptoms, in addition to the regular physio. I feel like I’m at the doctors every few weeks, and a regular visitor to the hospital with one aspect or another. Some doctors tell me there’s no way I have EDS because it’s so rare – despite matching the diagnostic criteria. Others tell me yes, I do, but it’s incurable (which I know). Now that it’s shown up in other family members, and confirmed by a geneticist, there’s no doubt about it.
EDS/JHS has always just been a part of me and who I am – I’m bendy, I have freaky joints, I have chronic pain. That’s fine. I can deal with that.
The guilt came when I had SB. Because EDS is an autosomnal recessive genetic condition, she had a 50% chance of inheriting the condition. I hoped beyond hope that she’d taken after Daf, and even when she started showing signs of hypermobility, I kept my fingers crossed. Most kids are hypermobile until they’re three or four, it’s normal.
Then I noticed the colour of the whites of her eyes. Blue/grey sclera is a characteristic of EDS and similar conditions, and hers match it exactly. I can try and kid myself that she doesn’t have it, but I know I’m lying to myself.
There’s nothing I could’ve done to prevent her getting EDS, and nothing I can do to stop it from getting worse. Mine has degenerated quickly in the last year; I can only hope she gets beyond 21 before she notices real restrictions in her mobility. Aside from that, all I can do is help her to see the funny side, and raise her to know that being chronically ill does not stop her from also being chronically awesome.
It can be hard to remember it when times are tough, but there have been funny times with my EDS. I’ve chased someone around a castle, bending my thumb back to my wrist to freak him out. Telling the doctor how I hurt my foot and watching his eyes widen as I explained my foot was up near my head when I dropped it. Knowing that my physio knows me as “the one with the knees” because they’re so crazily hypermobile. Pictures like this, taken by my mum back in 2010 –
So if SB has to inherit Ehlers Danlos, I’m glad that I have been through it first. I can guide her, I can help her to see the good bits, I can make sure she gets the diagnosis and the treatment she needs as quickly as possible. We’re lucky that awareness is slowly starting to grow about EDS – when I was younger, my mum did her best, but hypermobility was written off by doctors as “just double-jointedness”, the other symptoms were a series of coincidences. She did all she could, but medical attitudes were against her.
I’m determined that for SB, things are going to be different.