We live in constant fear of a debilitating connective tissue disorders can take up to 20 years to be diagnosed – until recently, were thought to be very rare. 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 is Ehlers Danlos Syndrome?
Ehlers Danlos Syndrome is a group of inherited disorders that mostly affect the skin, joints and blood vessels. Ehlers-Danlos syndrome affects connective tissue, primarily the skin, joints and blood vessel walls. 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 the 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 aluminium 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.
You may feel like you’ve made a breakthrough when you finally get a diagnosis, only to find that you are discharged and there is no-one to oversee your care as would be the case with other illnesses that affect multiple systems of the body. While there is no doubt that this lack of support is unfair, it is often possible to learn to effectively manage your condition yourself, with the right advice and guidance.
EDS cannot be ‘cured’ but many people learn over time how to control it and live full and active lives. The day-to-day management of most types of EDS is based around the right kind of exercise, physiotherapy and pacing. In addition, you should seek referrals for any associated conditions you may have. If there is an overwhelming number of them to deal with, we suggest picking the most debilitating. This could mean being referred on to services such as neurology, gastroenterology, podiatry or a pain management programme.
The are multiple factors that make Ehlers Danlos Syndrome hell
It can be a challenge to deal with so many symptoms at the same time but often, getting help to improve the most challenging one or two can make a big difference to your quality of life.
Joints
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.
Skin
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 tumours (fleshy lesions associated with scars over pressure areas).
Miscellaneous/Less Common
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.
Fatigue
There is overlap in the symptoms of hypermobile Ehlers-Danlos syndrome and ME/chronic fatigue syndrome, though they are not the same condition. Sleep disorders, chronic pain, muscle deconditioning and nutritional deficiencies can all contribute to fatigue in hEDS. There is no medication to alleviate the tiredness itself, but certain drugs are effective for problems that go on to cause fatigue. Physiotherapy, prevention of deconditioning and good nutrition are also recommended.
Management strategies include:
Physiotherapy
Medication
Sensible use of medical equipment such as splints and braces
A rheumatologist, who deals with diseases that affect connective tissues
A dermatologist, who treats skin conditions
An orthopedist, who specializes in joint and skeleton problems
Living With EDS
Some things can help make day-to-day life easier:
Use soft-bristled brushes to brush your teeth.
Thick pens or pencils can help ease the strain on your fingers.
Wear protective clothing or pads over your knees and elbows to prevent bruising or cuts.
Avoid contact sports and high-impact exercises like running or skiing
Also, a therapist, counsellor, or support group might help you deal better with the changes in your life.
Fun fact
The combined prevalence of all types of Ehlers-Danlos syndrome appears to be at least 1 in 5,000 individuals worldwide. The hypermobile and classical forms are most common; the hypermobile type may affect as many as 1 in 5,000 to 20,000 people, while the classical type probably occurs in 1 in 20,000 to 40,000 people. Other forms of Ehlers-Danlos syndrome are rare, often with only a few cases or affected families described in the medical literature