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   Makaila's Wish

What is Ehlers Danlos Disease?

Ehlers-Danlos syndromes are a group of disorders which share common  features including easy bruising, joint hypermobility (loose joints),  skin that stretches easily (skin hyperelasticity or laxity), and weakness of tissues.

 

The Ehlers-Danlos syndromes are inherited in the genes that are passed from parents to offspring. They are  categorized according to the form of genetic transmission into different types with many  features differing between patients in any given type. The fragile skin and loose joints is often a result of abnormal genes that produce abnormal proteins that  confer an inherited frailty of collagen (the normal protein "glue" of our tissues).

 

In 2001, researchers discovered a new form of Ehlers-Danlos syndrome that is caused by an inherited abnormality in a protein other than collagen that also normally plays a role in binding together the cells of our tissues (including the skin, tendons, muscle, and blood vessels). Abnormalities in this protein, called tenascin, also lead to a form of Ehlers-Danlos syndrome. Researchers suspect that tenascin could play a role in regulating the normal distribution of collagen in the connective tissues of the body.

What is Ehlers Danlos Type 6?

I am an 11-year old suffering from a rare genetic disease called Ehlers Danlos (EDS) type VI.

 

I (Makaila) experiences Pseudoaneurysms in my legs this is common for this type of Ehlers Danlos.

 

A pseudoaneurysm (false aneurysm) results from a leakage of blood from an artery after trauma or after "dehiscence," or separation, of a surgical anastomosis. The causes are discussed in greater detail below. Blood leaks from the artery into the surrounding tissue to form the pseudoaneurysm. Since blood from the artery continues to fill the pseudoaneurysm, it is under relatively high pressure and can expand and compress the surrounding structures (nerves, veins, etc.).

 

                             

 

 

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