7 May 2016

The enigma of Ehlers Danlos syndrome and why it's vital to make the #InvisibleVisible

Ah, it's Ehlers Danlos Awareness Month again, hurrah, zebras unite and shake your stripes! Gently, though, we don't want any awareness-raising injuries.

EDS is a very enigmatic condition. It's rare, yet it might not be particularly rare. It's often in the papers with one case or another, yet no one has heard of it. It's a condition that makes collagen very stretchy, so it affects pretty much all the body and yet medical professionals continually fail to consider it as a possible diagnosis or to make an appropriate referral.

Let's look at these conundrums in more detail, [and make sure you read the end for a chance to donate a £1 to EDS UK and buy buying something stripy and cool for yourself!]

The enigma of Ehlers Danlos syndrome and why it's vital to make the #InvisibleVisible

Is it rare, or just rarely diagnosed?

Certainly most types of EDS are rare, several extremely so, but what about Type Three, Hypermobility type?

Hypermobility in itself is not rare. Most dancers and gymnasts will be hypermobile- just ask Isobel Knight, a dancer with EDS, turned author and Bowen Practitioner. And, when you are hypermobile, you will be more prone to joint injuries.
But EDS III or Joint Hypermobility Syndrome isn't just about being a bit bendy or doing a few stomach-churning tricks with your double-jointedness. In fact, many people with EDS III aren't even especially bendy, particularly if they are older.

The thing about EDS is that it's a spectrum condition, which means that patients will all be different. Most will have one or more of a range of co-morbid conditions that stem from having dodgy collagen, any or all of which can be disabling just by themselves. These can include orthostatic tachycardia (PoTS), gastric issues like reflux or more severely, gastroparesis. Some will dislocate or part dislocate (subluxate) their joints regularly or have such instability that they need bracing or life-saving surgery. Depression and anxiety are very common and several physicians and practitioners familiar with EDS have noted to me the growing numbers of patients with both EDS and various degrees of Autism Spectrum Condition.

What EDS patients do have in common is chronic, intractable pain that can bear no resemblance to their level of flexibility. In fact, it is not uncommon for someone with EDS to be very stiff as their body attempts to stabilise itself and because chronic pain can lead to lack of activity.

It's often in the papers

Why is it that the media seem to love stories about people with EDS? See them here, in a wheelchair talking about "popping out" all over the place or there looking brave, with a naso-gastric tube. Why, even Coronation Street has an actress with EDS, Cherylee Houston. Sadly, the mainstream media often get a bit confused, cause consternation and then have to apologise. This does put EDS in the spotlight though, giving advocates a chance to set the record straight.

Added to this, if you move in certain social media circles it can almost seem that every single EDSer in the world under 30 has a Tumblr or other blog, a YouTube channel, a Facebook page or an Instagram, all of which post selfies, memes and videos about living with the condition.

I think this is as much a sign of the times as an indication that the condition is more common than thought. Why? Because EDS seems to affect mainly women. And teenage girls and young women like connecting pro-actively through social media, for what else is there to do when you're stuck at home ill than take to the internet and do your bit to raise awareness? With the number of EDSers who are on social media, it's amazing that there is anyone in cyberspace who hasn't heard of it. It's certainly a shame that more doctors don't seem to be active social media users - then it would be job done, no need for any more awareness days for EDS!

Pity us "more mature" ladies who suffered in cyber-silence and diagnostic ignorance because social media wasn't invented for most of our lives. Most of this age group will probably have been diagnosed following their child's diagnosis, have been told they have Fibromyalgia or just written off as being a "hypochondriac".

For our children, however, these dismissive reasons do not wash. We have sought answers for our sons and daughters so they receive better care and a more timely diagnosis. Hopefully.

Because of this I think it's painting a skewed picture of the prevalence of the condition, but the question remains: Despite all this media coverage, why isn't the medical profession moving more quickly to a greater understanding of the condition?

So why aren't medical professionals finding a cure?

Because of its multi-systemic nature, it's easy to mistake EDS for so many other conditions. Speaking for myself, I have experienced most of the stated symptoms of EDS III during my lifetime, just not all at once. So when you show up at the doctor's surgery with a slipped disc or depression or dizzy spells or intestinal difficulties etc, that is what you are treated for and why would anyone look any further?

It's only when they come together all at once that there is any reason to hypothesise. If you just get a lot of one particular symptom, you're quite possibly going to be misdiagnosed or just be filed in the 'medical mystery' drawer.

There is no single drug or operation that will cure Ehlers Danlos syndrome, nor is there likely to be any time soon. The main reason for this is, as I said above, it's a spectrum condition so no one solution will do.

It's also genetic, so the 'cure' is most probably in gene therapy or CRISPR - gene editing. These are controversial, highly regulated and expensive areas, so a rare condition that doesn't instantly kill the patient isn't going to be at the top of the list.

The third reason is a mixture of the above. Because of the rare and genetic nature of the EDS rainbow, no one drug will make it better so just the symptoms are tackled. Pharmaceutically speaking, this involves drugs for pain, heart regulation and gastric distress, among others. Most of these are cheaper off-patent drugs such as opiates, beta-blockers and so on. There are some newer drugs for heart regulation such as Ivabradine and Midodrine, but they were not developed for this purpose, they only suit certain kinds of PoTS and are mainly prescribed by a specialist - and you have to find one first. So, for these reasons, big pharma have little interest in driving EDS-specific drug research forward as there is little in it for them financially. There is more scope, however for drug repurposing.

Keep on raising awareness

So all these reasons above are why it is so necessary to continue to raise awareness of Ehlers Danlos and related conditions and why it is vitally important to educate medical professionals, education providers and the general public about the condition.

In particular, it is important to educate social workers that an often ill or bruised child is not always an abused child; that before they swoop in and fracture a family by removing children from their parents, they should seek professional, expert guidance as to whether the child may have an undiagnosed condition such as EDS (or other similar conditions).

So why not help illuminate, educate and make the invisible visible? Join or start a conversation on the international EDS Forum at RareConnect (anytime!) I'm there, my username is Tanushka