28 February 2019

Rare Disease Day

Today (28th February) is rare disease day.  Rare disease day is a worldwide event taking place on the last day of February each year (it was first celebrated in 2009). The main objectives of rare disease day are to raise awareness for rare diseases and their impact on patients' lives, and to improve access to treatment for those living with rare diseases.

What is a rare disease?
A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2,000 people (in the USA it is defined as rare when it affects fewer than 200,000 Americans). There are between 6,000 and 8,000 known rare diseases and around 5 new rare diseases are described in medical literature each week. 1 in 17 people (almost 6% of the population) will be affected by a rare disease at some point in their lives. That's approximately 3.5 million people in the UK, 30 million people across Europe and 30 million people in the USA.

Fact- 50% of rare diseases affect children.

Why is rare disease day important?
This day is so important because it helps raise awareness for little known or often unheard of conditions. Through raising awareness we can improve the quality of care people with rare diseases receive, develop new treatments and medications, reduce the time it takes to receive a correct diagnosis and ultimately work towards finding a cure. Because despite the fact that 1 in 17 people will live with a rare disease at some point in their life there is no cure for the majority of rare diseases and people are often misdiagnosed delaying access to possible treatment (many go undiagnosed). This is not acceptable but thanks to rare disease day things are starting to change. Rare disease day improves knowledge amongst the general public whilst encouraging researchers and decision makers to address the needs of people living with rare diseases.

Fact- 80% of rare diseases have identified genetic origins (others are the result of infections, allergies and environmental causes or are degenerative).

The rare disease I have is Ehlers Danlos Syndrome. Ehlers Danlos Syndrome (EDS) is a connective tissue disorder that causes the body to produce faulty collagen. Collagen is the 'glue' that holds our body together and is found all throughout the body. In your ligaments, muscles, joints, organs, eyes... This faulty collagen weakens the tissues that supports the skin, bones, blood vessels, arteries, internal organs and more. There are 13 known types of EDS that have been discovered (so far) and the faulty gene has been identified for all types except for Hypermobile EDS (H-EDS). 

Symptoms vary depending on which type of EDS you have and no two people have exactly the same symptoms but some of symptoms I personally experience are; chronic pain, easy bruising, fatigue, gastrointestinal problems (including nausea, acid reflux, cramps and early satiety), hyperextension of various joints, hypermobility in numerous joints throughout my body, low blood pressure, poor proprioception, subluxations/dislocations, soft velvety skin, tachycardia and urinary incontinence. (This list is in no particular order and is not a complete list of my symptoms). Like all rare diseases Ehlers Danlos Syndrome is underdiagnosed, underrecognized and misunderstood.

"With research, possibilities are limitless"

For more information on rare disease day click here.

For more information on EDS click here and/or here.

• https://www.rarediseaseday.org
• https://www.raredisease.org.uk/what-is-a-rare-disease/

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