1. Ehlers-Danlos Syndrome

2. What will we be covering? What is Ehlers-Danlos syndrome Diagnosis How does this affect people day to day? Support

3. 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 difficulties

4. Different types of Ehlers-Danlos Syndrome  Classical – 1 in 20,000, joint dislocations, velvet skin, hernias, fragile easily split skin and cigarette paper scars  Vascular – 1 in 250,000, fragile blood vessels can lead to major complications, aortic aneurysms are a risk, distinctive features including thin nose and lips and small earlobes, joint hypermobility only in small joints  Kyphoscoliotic – weak muscle tone from childhood, fragile eyeballs, fragile arteries, osteoporosis and curvature of the spine

5. Different types of Ehlers-Danlos Syndrome  Arthrochalasia – Severe joint hypermobility, hip dislocations, atrophic scars, Kyphoscoliotic, skin hyper-extensibility  Dermatoparaxis – severe skin fragility, sagging redundant skin, large hernias and easy bruising  Tenascin X – similar to classical without the scarring, hyper-elastic skin, subluxations and dislocations  Hypermobility – joint hypermobility which can lead to subluxations and dislocations, loose unstable joints, joint pain, fatigue and postural orthostatic tachycardia syndrome

6. Hypermobility Ehlers-Danlos syndrome A high percentage of the population is hypermobile 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

7. 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  Going to work and having a meeting– 3 spoons  Having lunch and afternoon work– 3 spoons  Going swimming – 3 spoons  Dinner and dusting – 3 spoons  Dinner out and cinema with friends/date night – 4 spoons

8. Diagnosis  Unlike the other types of EDS the specific gene has not been identified – so diagnosis follows a different path  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

9.  Fatigue – understanding the difference between feeling a little tired and being exhausted  In pain – pain in the joints and muscles  Anxiety  Dislocations  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 – this can affect an individuals social life due to being too fatigued to be able to attend social events. Understanding how this affects an individual

10. Who is The Ehlers-Danlos Support UK? 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

11. What do EDS UK 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 – running support groups for members of EDS UK  Fundraising – assisting individuals with fundraising in their local area  Awareness – spreading awareness of EDS through different outlets

12. How can I help?  EDS hypermobility was initially classified as a rare disease but this is now changing. Please help us spread awareness.  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.

13. Questions?