The Ehlers-Danlos Support UK Hi Everyone, My name is …… and I have been asked to come to talk to you about Ehlers-Danlos Syndrome, a connective tissue disorder which affects the entire body.

What will we be covering? So what will we be covering… (read bullet points) What is Ehlers-Danlos syndrome How does it affect people day to day? Who are EDS UK Meet the team What do they do? Awareness!!

So what is Ehlers-Danlos syndrome? A genetic connective tissue disorder which affects the collagen within the body Collagen is a protein which is the main building block of the body providing strength and support in ligaments, tendons and cartilage We are made up of a high percentage of collagen so Ehlers-Danlos syndrome can affect the whole body A genetic condition is hereditary and is with an individual from birth but symptoms may not show immediately There are seven different types of EDS with Hypermobility being the most common with the others being: Classical, Vascular, Kyphoscoliotic, Arthrochalasia, Dermatoparaxis and Tenascin X Ehlers-Danlos Syndrome can be referred to as an invisible illness – individuals often look well from the outside but are experiencing lots of issues on the inside For example, without strength in your ligaments, cartilage and tendons in your knee, the joint becomes lax and can sublux and even dislocate. EDS can also affect the internal organs. Some individuals don’t have many symptoms until later in life when they can become unwell in a short period of time. Hypermobility is the most common but the other types can be detected with a genetic test, whereas hypermobility can’t.

A quick lesson in genetics! Genes are what makes us US! We inherit one pair from our mother and one from our father They are unique instructions which make up each individual and affect everything from the way we clasp our hands to way our ear lobes look! Some genes are dominant and others recessive Brown eyes for instance can be a dominant gene in a family! How many of you have brown eyes? Did you know that even rolling your tongue is a genetic trait – and if you’re the only one in your family who can do this the genetic alteration has started with you! Hypermobility is a dominant gene and a heritable condition but you can be the first in your family to have it Let’s have a quick lesson in genetics. Genes are what make us US and we inherit a pair each from our parents. These unique instructions make up each individual and affect everything from the way we clasp our hands to the way our ear lobes look. If you all clasp your hands now you will see that some of you put your left thumb on top and others their right, some of you might have ear lobes which are attached and others detached, take a look at your neighbour. Some genes are dominant and others recessive, brown eyes for instance (ask how many have brown eyes) can be dominant but it can also be recessive. How many of you can roll your tongue? This is a genetic trait but the alteration could start with you, if neither of your parents can roll their tongue you are the first one whose genes have made this possible! Hypermobility EDS is a dominant gene and heritable, meaning your parent or child could have the condition but you can be the first person in your family to have the condition.

Hypermobility Ehlers-Danlos syndrome A high percentage of the population is hypermobile – double jointed! You can be hypermobile and not have Ehlers-Danlos syndrome EDS hypermobility syndrome often comes with many difficulties such as: Dislocations and subluxations Chronic fatigue Chronic pain Gastrointestinal difficulties Brain fog Easy bruising Postural orthostatic tachycardia syndrome – PoTS! It is important to differentiate between individuals being hypermobile, more commonly know as double jointed and those with EDS. Individuals can be hypermobile and have flexible joints but experience no pain, dislocations, subluxations or fatigue. Those with EDS suffer from chronic pain and fatigue as well as easy bruising and brain fog.

Why the zebra? Who here would like to work in the medical profession? Imagine a medical condition is presented by a hoof beat What do we think of when we hear a hoof beat? Horses! – this represents the more common conditions people will suffer from But zebras make hoof beats too! These represent the rarer conditions It teaches individuals to look out for the zebras as well as the horses! Who here would like to work in the medical profession? Imagine a medical condition being presented by a hoof beat, what do you think of when you hear hoof beats? Horses! This can cover the more common conditions and this is what a lot of doctors and nurses are taught when diagnosing but zebras make hoof beats too and although are rare still exist and should be paid attention too to ensure individuals get looked after.

How does this affect an individual day to day? Spoon theory! Please can I have two volunteers? You have 12 spoons to use for the day but you need to carry out quite a few of the following tasks!! Getting dressed and showered – 2 spoons Getting to school and first two lessons – 3 spoons Having lunch and afternoon lessons – 3 spoons Going swimming – 3 spoons Dinner and homework – 3 spoons Dinner and seeing friends for a cinema trip – 4 spoons The simplest way to explain how this affects someone day to day would be the spoon theory. You have 12 spoons which represent your energy for the day, once you have run out of spoons you cannot do anything else for the day. Please can I have two volunteers, between you please decide which activities you would like to do on one day using only the twelve spoons you have, once you’ve used them all your can’t have more and have to finish for the day. It can be hard to prioritise, to have time to be social and to not exhaust yourself. Once the spoons are gone this represents your energy levels and the impact it can have on someone’s life.

Diagnosis Unlike the other types of EDS the specific gene has not been identified – so how do we know someone has EDS? You visit a rheumatologist who deal with joints They will take a look at all factors – how hypermobile you are, joint pain, subluxations and additional issues. There are two scales which can be referred to – the Brighton criteria and the Beighton score Once an individual has been diagnosed they can look at how to manage their symptoms with support from their multi-disciplinary medical team So how do individuals get a diagnosis for Hypermobility EDS Unfortunately the gene for Hypermobility EDS has not been identified meaning another route is taken to get a diagnosis. Individuals visit a rheumatologist who will look at their joints, their pain, subluxations and additional issues. They will look at the hypermobility in their joints and refer to the Brighton criteria and Beighton score to diagnose them. Management of symptoms is needed after this to fully support an individual.

Understanding how this affects an individual Fatigue – understanding the difference between feeling a little tired and being exhausted In pain – pain in the joints and muscles Anxiety Might be unable to do PE Difficulty with mobility Pacing and exercise are very important! Swimming, Pilates and cycling are a great way of managing and treating EDS. But only the right types of exercise! Building up muscle tone can help hold joints in place! It’s important to pace – understanding that someone with EDS might be too tired to attend an event this week, are they saving their energy for the school social next week? Don’t stop inviting your friend to things – I can assure you they still want to attend!! When looking in detail at the difficulties individuals experience day to day, fatigue is a major part, as well as being in pain and suffering from anxiety. Additional to this individuals have to cope with the impact mobility issues have on their day to day life due to subluxations and dislocations. To manage hypermobility EDS, exercise and pacing are important, taking part in gentle exercise which doesn’t put strain on the joints can help build up muscle strength. Pacing is very important to avoid the boom and bust cycle of exhausting oneself and being out of action for days or weeks.

Who are The Ehlers-Danlos Support UK? The only EDS charity in the UK Covers England, Wales, Scotland and NI A board of trustees Medical Panel Small staff team Volunteer Area Coordinators Set up in 1987 Who are The Ehlers-Danlos Support UK? They were set up in 1987 by Valarie and Tom Burrows, Lara Bloom joined around 5 years ago and was set up in a small church hall and the charity was grown to what it is today quickly. EDS UK is the only EDS charity in the UK and covers England, Wales, Scotland and NI. They have a board of volunteer trustees who help make decisions for the charity. There is also a medical panel made up of geneticists, rheumatologists and other medical professionals who help make decisions about management and diagnosis. There is a small staff team who run the office, managing fundraising, volunteers, memberships and running a helpline. There is also a great support network of volunteer Area Coordinators who offer support and run groups in their local areas.

Guy – office manager: manages budgets, IT and oversees general decisions Meet the team!! Area Coordinators – running support groups: working hard to set up support groups and support their local community Sarah – communities manager: manages volunteers across the UK and the EDS community Cathy – membership and donations administrator: managing new memberships and donations Mya – helpline advisor: offers advice and support for those with EDS or seeking diagnosis Michelle – fundraising coordinator: supports and arranges fundraising activities across the UK Erin – social media: manages social media accounts and posts relevant information EDS UK have a small team who work in Borehamwood, there’s Guy the office manager, Sarah the communities manager, Erin who manages social media, Michelle the fundraising coordinator, Mya the helpline advisor and Cathy the membership and donations administrator. There is an excellent team of volunteer Area Coordinators who offer support and meetings for those in the EDS community in their areas across the UK. The team help keep the charity running and work on new projects throughout the year.

What do they do? Hold conferences on a variety of topics including – joint hypermobility, managing your EDS and diagnostics Offer help to those seeking diagnosis, those needing to manage their EDS or those requiring emotional support Social media – successfully running support networks through social media outlets Support groups – Area Coordinators run support groups in their area Fundraising – assisting individuals with fundraising in their local area Awareness – spreading awareness of EDS through different outlets 1. These are available online for members who are unable to attend the conferences. 2. The helpline advisor as well as the rest of the team work hard to offer support for those with or being diagnosed with EDS and what steps they can take next. 3. Facebook and twitter are a huge aspect of the charity, with over 50 active Facebook groups, offering support and management advice. 4. Support groups are run by the volunteer Area Coordinators across the UK, they cover certain topics every quarter and share the latest information on management with their local members as well as providing much needed support. 5. Fundraising assistance is given for local areas with leaflets, posters and advice given out as well as larger projects such as the London Marathon. 6. Awareness is especially important as EDS hypermobility moves out of the rare disease category, the more awareness spread the more support and management available to the community.

How can I help? EDS hypermobility was initially classified as a rare disease but this is beginning to change as the medical profession become more aware – so let’s push it further! Awareness – word of mouth, posters, leaflets and fundraising! Fundraising helps us to promote EDS and provide quality support to those who suffer with Ehlers-Danlos syndrome. It helps us work with medical professionals from all over the world to innovate and work together to find effective management techniques. It allows the next generation – you! – to make a difference! So what can you do? With EDS hypermobility moving away from being classified as rare, raising awareness and spreading the word is extremely important. Talking to others, putting up posters and handing out leaflets all help to let others know. Additional to this fundraising is vital to The Ehlers-Danlos Support UK being able to support members and their families with EDS as well as producing and promoting awareness. What fun things can you do to support those with EDS, a zebrathon? A sponsored silence? Get your thinking caps on!

Questions? Fun Fact Dog’s can get EDS too!! A main symptom for them is extremely stretchy skin! A fun fact about hypermobility EDS is that dogs can get it too, a symptom for them is extremely stretchy skin, they need looking after too!