Last week the MediStori team were discussing how they could raise awareness about complex conditions that we come across on a daily basis, through talking to patients, carers and charities. So when Olive asked me would I write a blog post on Ehlers Danlos/Joint Hypermobility Syndrome, due to my complete lack of knowledge on the disorder, I was nervous – I thought it sounded like some kind of superpower!
However (sadly) this is not the case.
EDS (Ehlers Danlos Syndrome or Joint Hypermobility Syndrome) actually affects approximately 1 in 10,000 people in the world. It is classed as a rare disease and is an inherited connective tissue disorder that predominantly affects the skeletal system.
As I myself had no personal experience with EDS, I wanted to learn more about real people with this chronic illness and hear about their journeys. Researching and finding information on a disease is one thing, but with anything medical related, the experience of patients who are actually suffering from a particular illness can be much more helpful than pages and pages of medical data. They give a crucial and unique insight, allowing people who don’t have an illness to be enlightened, and ultimately understand it in a completely different way. Blogs and videos have helped me better realize the true nature of EDS. From simply reading the information, I honestly thought it sounded like an easy chronic illness to live with (if there is such a thing), but patients’ personal blogs have opened my eyes to the full extent of this disorder, which can be extremely debilitating in many cases.
Many “sister” illnesses are regularly associated with EDS, for instance – Abdominal Aortic Aneurysm, Scoliosis, Emphysema, Postural Orthostatic Tachycardia Syndrome (POTS), to name just a few. This is because connective tissue is an essential component of every part of our bodies, making secondary disorders common. Patient self-management becomes critically important with so many illnesses and their accompanying medications, but it can be so hard to just get better – never mind keeping it altogether, so it is important that toolkits like the MediStori, apps or pillboxes, for example, are made available for patients with these type of conditions in particular, to simplify their personal care. And because it is really important for those with rare diseases to keep track of medical history for themselves, not just for now, but for future generations also.
In short, EDS is a life-long chronic illness with no cure, but managed through supportive interventions. People with extremely rare diseases, like EDS, are often classed as “Zebras” termed because of the famous medical proverb from Dr. Theodore Woodward, who stated “When you hear hoofbeats, think of horses, not zebras” The saying means that doctor and patients should look for the expected cause first, rather than the exotic. Since doing my research and reading patients stories, I feel that more supports in health care and community settings are needed for these “Zebras” of the world, by encouraging them to be proactive in managing their disorder.
Here at home, I am happy to say that there are two recognised support groups for EDS [details below]. These organisations aim to support and empower people with Ehlers Danlos and Hypermobility in Ireland and allow people affected by these chronic illnesses to connect with each other and share their experiences. They also aim to educate and provide critical information about the different types of EDS, which vary from being mild to life threatening:
Classic EDS: The main features include stretchy and fragile skin, and poor wound healing.
Vascular EDS: This is one of the most serious forms of EDS. Main features include fragile blood vessels and organs which are at risk of rupture.
Hypermobility EDS (HEDS): This is the most common type of EDS. People with HEDS generally have widespread joint mobility, together with other symptoms such as chronic joint and muscle pain and chronic fatigue.
I did however know how important connective tissue was because I had studied Biopharmaceutical Science in college, however I had no idea just how disabled you could be if it wasn’t “working” properly.
Connective tissues are crucial – they connect, support, bind, or separate other tissues or organs and they not only provide a supportive framework for our bodies, they also give strength to our joints, ligaments, skin and blood vessels. Because of the importance of connective tissues this disorder can compromise many of our bodies’ normal functions and systems. It is genetic defects within the connective tissue proteins that are the root cause of EDS. There can be a wide variety of defects with these proteins, leading to many different types of EDS. This disorder can “run true” in a family, with each individual family suffering from a distinct yet slightly different disorder.
So in conclusion, after doing all my research on this debilitating disease, I have now come to realise that EDS itself is actually not a superpower – but instead those who live with it are super people.
Thanks so much for reading.
Support groups for EDS