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Wednesday, 16 May 2012

Why do we see zebras when reading about rare and invisible conditions like EDS?

Good question... 

In medical school, students are taught to diagnose patients based on the condition that’s most likely.  This makes sense.  Why attempt to diagnose something rare when the answer is right under your nose? This idea goes along with the saying: When you hear hoof beats, think horses, not zebras. The horses are the likely explanation, and the zebras are less likely. A medical zebra, then, is a person with a rare medical condition. As you may have guessed, Ehlers-Danlos syndrome is considered rare.

Monday, 14 May 2012

May is Ehlers Danlos Syndrome awareness Month! This is an invisible condition that I suffer with and little is known about it around the world not only amongst the public but also professionals. Below is more information about EDS taken from the EDNF website.

What is EDS?

Individuals with EDS have a defect in their connective tissue, the tissue that provides support to many body parts such as the skin, muscles and ligaments. The fragile skin and unstable joints found in EDS are the result of faulty collagen. Collagen is a protein, which acts as a “glue” in the body, adding strength and elasticity to connective tissue.
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders, characterized by articular (joint) hypermobility, skin extensibility and tissue fragility. There are six major types of EDS. The different types of EDS are classified according to their manifestations of signs and symptoms. Each type of EDS is a distinct disorder that “runs true” in a family. This means that an individual with Vascular Type EDS will not have a child with Classical Type EDS.

What are the symptoms of EDS?

Clinical manifestations of EDS are most often joint and skin related and may include:
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 tumors (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.

What are the types of EDS?

There are six major types of EDS. The different types of EDS are classified according to the signs and symptoms that are manifested. Each type of EDS is a distinct disorder that “runs true” in a family. An individual with Vascular Type EDS will not have a child with Classical Type EDS.

How is EDS diagnosed?

The categorization of the Ehlers-Danlos syndromes began in the late 1960s and was formalized in the Berlin nosology. Over time, it became apparent that the diagnostic criteria established and published in 1988 did not discriminate adequately between the different types of the Ehlers-Danlos syndrome or between the Ehlers-Danlos syndrome and other phenotypically related conditions. In 1997, a revised nosology was written in Villefranche that redefined the types of EDS. 

How prevalent is EDS?

At this time, research statistics of EDS show the prevalence as 1 in 2,500 to 1 in 5,000. It is known to affect both males and females of all racial and ethnic backgrounds.

How is EDS inherited?

The two known inheritance patterns for EDS include autosomal dominant and autosomal recessive. Specifics regarding genetic inheritance may be found by following the link below. Regardless of the inheritance pattern, we have no choice in which genes we pass on to our children. 

What is the prognosis of someone with EDS?

The prognosis of EDS depends on the specific type. Life expectancy can be shortened with the Vascular Type of EDS due to the possibility of organ and vessel rupture. Life expectancy is usually not affected in the other types.

What can I do now?

The defining trait of those affected by EDS is the search for information. The rise in Internet usage has delivered a significant benefit to families affected by EDS. EDNF members are sharing information on-line and learning from each other in ways that were impossible not very long ago. 

Here is some invisible disabilities that we learnt a bit about on our #invisibledisabilities day!

Myalgic Encephalomyelitis (ME)ME is recognised as a neurological illness by the World Health Organisation. It is a real, often relapsing, debilitating illness, affecting up to 150,000 people in the UK, with similar rates of incidence in Europe, USA, New Zealand and Australia. More Info.

Hypermobility Syndrome (HMS) Connective tissue proteins such as collagen give the body its intrinsic toughness. When they are differently formed, the results are mainly felt in the "moving parts" - the joints, muscles, tendons, ligaments - which are laxer and more fragile than is the case for most people. The result is joint laxity with hypermobility and with it comes vulnerability to the effects of injury. More Info.

Ehlers Danlos Syndrome (EDS)Ehlers-Danlos syndrome (EDS) encompasses several types of inherited connective tissue disorders. Connective tissue provides support to parts of the body such as the skin and muscles, but in EDS the collagen that gives strength and elasticity to connective tissue is faulty. This results in hyperelastic skin that's fragile and bruises easily, excessive looseness of the joints, blood vessels that are easily damaged and, rarely, rupture of internal organs. There are six major types of EDS, categorised according to signs and symptoms, and the condition can range from mild to life-threatening. More Info.

Mitochondrial DiseaseMitochondrial myopathies are a group of neuromuscular diseases caused by damage to the mitochondria-small, energy-producing structures that serve as the cells' "power plants." Nerve cells in the brain and muscles require a great deal of energy, and thus appear to be particularly damaged when mitochondrial dysfunction occursMore Info.

Postural orthostatic tachycardia syndrome (POTS, also postural tachycardia syndrome) - A condition of dysautonomia , to be more specific orthostatic intolerance, in which a change from the supine position to an upright position causes an abnormally large increase in heart rate, called tachycardia.More Info.

Brittle bone disease (osteogenesis imperfecta) Osteogenesis imperfecta (OI) is the most common disease causing fractures in childhood. It also causes fractures in adults. OI is a genetic disorder usually resulting from abnormalities of the genes, which control the production of a protein called collagen. This is the main protein in bone and essential for its strength. The fragility of bone in OI is due to the collagen problems. It has nothing to do with the calcium part of bone, which is what shows up on X-raysMore Info.

These are just some of the Invisible disabilities we have learnt about - stay tuned for info on more, coming soon!

Sunday, 13 May 2012

On Friday 4th may, our #invisibledisabilities day we reached 10,000 hits on the blog!

Thanks so much for everyone who supported us and got involved, helping us to reach our target. We're now well on our way to the 11,000 mark and 20,000 is our next goal! Keep posted as there shall be many updates to come about invisible conditions. 

Keep spreading the word about invisible disabilities.

Next Post: Invisible conditions we learnt about on #invisibledisabilities day.

Thursday, 3 May 2012

Tomorrow is our #invisibledisabilities day, so if you're on twitter use the hashtag #invisibledisabilities all day if possible but mainly at 6pm (BST) to help raise awareness about all kinds of invisible conditions!

If you're on facebook, google+, pinterest, or whatever social network you're on, talk about the #invisibledisabilities initiative and educate others about your condition!

All the support so far is greatly appreciated!

Tomorrow, let us tell the world about our #invisibledisabilities and make the invisible visible!

Remember: 6pm - twitter - #invisibledisabilities - tweet about your condition and where about in the world you are!