Rare Disease Day

What is Rare Disease Day?

Rare Disease Day is a global event which takes place on the last day of February each year. This year it will take place on Wednesday 28th February 2018. The purpose of this campaign is to raise awareness amongst the general public and decision makers about rare diseases and the impact which it has on patient’s lives. The campaign primarily targets the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases. The campaign improves knowledge amongst the general public of rare diseases whilst encouraging researchers and decision makers to address the needs of those living with rare diseases.

To find out more information about Rare Disease Day visit https://www.rarediseaseday.org/article/what-is-rare-disease-day

How can you get involved with Rare Disease Day?

• Sign up and partner with Rare Disease Day campaign

• Submit your event on the website

• Tell your story

• Download communication materials

• Social media

To find out more information about how you can get involved visit https://www.rarediseaseday.org/article/get-involved

What is a Rare Disease?

A rare disease is defined by the European Union as one that affects less than 5 in 10,000 of the general population. There are between 6,000 and 8,000 known rare diseases. Research predicts that 1 in 17 people, or 7% of the population, will be affected by a rare disease at some point in their lives. This equates to approximately 3.5 million people in the UK and 30 million people across Europe. In the UK, it is predicted that a single rare disease may affect up to 30,000 people. Research suggests that 80% of rare diseases have a genetic component and they can be possibly manageable long term conditions or in more serious cases life threatening. Rare diseases can be single gene, multifactorial, chromosomal or non genetic. Examples of rare diseases include cystic fibrosis, which affects the respiratory and digestive systems; muscular dystrophies, which affect the muscles; and Huntington’s disease, which affects the brain and nervous system. The causes of many rare diseases are unknown and difficult to diagnose; due to many medical professionals not being used to diagnosing these conditions. Further research is being conducted into treating and diagnosing rare diseases.

How do I find out more about Rare Conditions?

ORPHANET- This is an online portal that provides information on individual conditions. The summaries are based on published evidence from scientific articles. This is useful in identifying other names used for the condition which may be helpful when you are looking for support as you are unsure what condition you have.

PUBMED- This contains citations from a range of different sources of medical literature. This links to information about conditions in journal articles, books and other reliable sources.

To find out more information about how you can get support for rare conditions visit https://www.raredisease.org.uk/information-and-support