Dreams Come True

Rare Disease Day

2016 marks the ninth year that the international rare disease community celebrates Rare Disease Day. This year’s theme is ‘the patient voice’ with the slogan ‘join us in making the voice of rare diseases heard’

Here at Dreams Come True we fulfil the dreams of children and young people with many different and challenging conditions. This includes all life threatening rare diseases. Over the years we have helped children with fragile x syndrome, cystic fibrosis and Ehlers Danlos Syndrome to name only three!

So what is a rare disease?

The National Alliance for people with rare diseases in the UK says: 

  • 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.
  • Around five new rare diseases are described in medical literature each week.
  • 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, a single rare disease may affect up to about 30,000 people. The vast majority of rare diseases will affect far fewer than this – some will affect only a handful, or even a single person in the whole of the UK.
  • 80% of rare diseases have a genetic component.
  • Often rare diseases are chronic and life-threatening.
  • Rare diseases can be single gene, multifactorial, chromosomal or non-genetic.
  • 75% of rare diseases affect children, and 30% of rare disease patients die before their fifth birthday.
In the EU, as many as 30 million people may be affected by one of over 6000 rare diseases.
  • 80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.
  • 50% of rare diseases touch children.

One of the most challenging problems with rare diseases is the lack of scientific knowledge and quality information on the disease often results in a delay in diagnosis.

This is something our ambassador Lucy Watts MBE knows a lot about as it happened to her. Diagnosed at the age of 14 with Ehlers-Danlos syndrome hypermobility/type 3 Lucy spent years in pain with no real answers from Doctors on what was going on.

Lucy is an inspiring young lady who has dedicated her life to campaigning for better palliative care for young people and a smoother transition to adult care, better support for families and the never ending battle to get the funding and care needed.

Read more about Lucy here.

On February 29th Rare Disease day hopes to raise awareness among the general public about rare diseases and the impact they have on the people they affect and their support networks.

We are asking our supporters to please share the information on Rare Disease Day and join their cause to help increase awareness and highlight this public health priority to government and health departments.

Hannah Attenburrow
Date: 13/01/2016
Author: Hannah Attenburrow
Source: Dreams Come True


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