WHEEL LIFE STORIES PRESENTS
PEOPLE of the WHEEL WORLD
What is Ehlers Danlos Syndrome? What are some of the symptoms associated with the disease?
The Ehlers-Danlos syndromes are a group of connective tissue disorders that can be inherited and are varied both in how they affect the body and in their genetic causes. They are generally characterized by joint hypermobility (joints that stretch further than normal), skin hyperextensibility (skin that can be stretched further than normal), and tissue fragility. Clinical manifestations of an Ehlers-Danlos syndrome are most often joint and skin related and may include:
Joint hypermobility; loose/unstable joints which are prone to frequent dislocations and/or subluxations; joint pain; hyperextensible joints (they move beyond the joint’s normal range); early onset of osteoarthritis.
Soft velvety-like skin; variable skin hyper-extensibility; fragile skin that tears or bruises easily (bruising may be severe); severe scarring; slow and poor wound healing; development of molluscoid pseudo tumors (fleshy lesions associated with scars over pressure areas).
Chronic, early onset, debilitating musculoskeletal pain (usually associated with the Hypermobility Type); arterial/intestinal/uterine fragility or rupture (usually associated with the Vascular Type); scoliosis at birth and scleral fragility (associated with the Kyphoscoliosis Type); poor muscle tone (associated with the Arthrochalasia Type); mitral valve prolapse; and gum disease.
Each type of Ehlers-Danlos syndrome is defined as a distinct problem in connective tissue. Connective tissue is what the body uses to provide strength and elasticity; normal connective tissue holds strong proteins that allow tissue to be stretched but not beyond its limit, and then safely return that tissue to normal. Connective tissue is found throughout the body, and Ehlers-Danlos syndromes are structural problems. An analogy: If one builds a house with faulty materials, say half the necessary wood or with soft aluminum nails, it is certain there will be problems. Some problems are more likely to show up than others, but because those materials were used everywhere and are not necessarily visible, one can be surprised by where a problem shows up or how serious it is.
It is much the same thing with an Ehlers-Danlos Syndrome and connective tissue.
The connective tissue a person with EDS is built with is not structured the way it should be. With a badly-constructed or processed connective tissue, some or all of the tissue in the EDS-affected body can be pulled beyond normal limits which causes damage. Connective tissue can be found almost anywhere, in skin, muscles, tendons and ligaments, blood vessels, organs, gums, eyes, and so on.
The problems resulting from one’s body being built out of a protein that behaves unreliably can be widespread and in a wide range of severity. It shows up in places that seem unrelated until the underlying connection to an Ehlers-Danlos syndrome is recognized.
What are some of the biggest misconceptions/myths about having EDS? What can be done to change this false narrative?
I think the most frustrating one is that it means you are just a bit bendy. It is essential people realize how multi systemic it can be. There is also lots of debate about how rare, or not, the condition is. It is very important to remember there are 14 types of EDS and all but one of them are 100% rare. The Hypermobile form may be more common but we need the data to prove that which we hope will come from the registry.
How old were you when you were diagnosed with EDS? Did you have any warning signs?
I was diagnosed at 24, after being symptomatic from the age of 11 with multiple issues.
Does EDS effect your life daily? What advice would you give to others dealing with the disease?
It gives me pain, fatigue and frustration. On the whole I live a good quality of life despite my symptoms and for me the things that make it possible to cope with living with EDS are always remembering the mind and body connection, a good clean diet, high dose vitamin C and keeping your muscles as strong as possible, whilst respecting your symptoms and capabilities.
How did you get involved with the Ehlers Danlos Society? What are your duties As the International Executive Director?
I was running EDS UK from 2010-2015 and realized there was a real ceiling in what could be done nationally and it was becoming apparent that an international organization was needed to support the level of work needed. I approached the team at EDNF to see if they would be interested in supporting a global organization, and the rest as they say is history! My duties vary every day but they usually include strategy, advocacy, awareness, managing donors and supporters and public speaking on our behalf. Oh, and lots of travel!