Rare diseases

Rare Disease Day is held worldwide, on the last day of February every year, to raise awareness of rare diseases and their impact on patients’ lives

About rare diseases

  • It is estimated that 350 million people worldwide suffer from rare diseases.
  • There are approximately 7000 different types of rare diseasesand disorders, with more being discovered each day.
  • 30 million people in the United States are living with rare diseases. Similarly, there are approximately 30 million people living with rare diseases in Europe[i]. As it has been established that about 1 in 10 people globally have a rare disease, it has this been estimated that in South Africa roughly 3.6 million people are affected.
  • International definitions of rare diseases vary. In South Africa, rare diseases are under-diagnosed and therefore we cannot define them according to the number of affected individuals. In the US, a rare disease is defined as a condition that affects fewer than 200 000 people. In the UK, a disease is considered rare if it affects fewer than 50 000 citizens per disease.
  • 80% of rare diseases are genetic in origin, and thus are present throughout a person’s life, even if symptoms do not immediately appear.
  • Approximately 50% of the people affected by rare diseases are children.
  • 30% of children with rare disease will not live to see their 5th birthday.
  • Rare diseases are responsible for 35% of deaths in the first year of life.
  • The prevalence distribution of rare diseases is skewed – 80% of all rare disease patients are affected by approximately 350 rare diseases.
  • Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease.

About Rare Diseases South Africa (RDSA)

  • Rare Diseases South Africa is a registered non-profit organisation helping patients affected by rare diseases to access life-saving treatment and supportive care for improved quality of life.
  • RDSA was founded in 2013 by Kelly du Plessis after her son was diagnosed with a rare condition.
  • Initially established as a support group to fill the void confronted by patients and their families following the diagnoses of a rare condition, RDSA quickly evolved into a fully registered non-profit company focusing on all aspects of advocacy and support.
  • RDSA works in close collaboration and partnership with Genetic Alliance SA.

About Rare Disease Day

  • Rare Disease Day is held worldwide, on the last day of February every year, to raise awareness of rare diseases and their impact on patients’ lives.
  • 28 February 2017 marks the tenth international Rare Disease Day coordinated by the European Organisation for Rare Diseases (EURORDIS).
  • On and around this day hundreds of patient organisations from countries and regions all over the world will hold awareness-raising activities.
  • This year the theme is Research. Research is key. It brings hope to the millions of people living with a rare disease across the world and their families.
  • The Rare Disease Day slogan is ‘With research, possibilities are limitless’.
  • The US Orphan Drug Act (1983) and the EU Regulation on orphan medicinal products (2000) both stimulated rare disease research. This is the result of advocacy from the rare disease community to ensure that policy makers, companies and researchers understand the benefits of rare disease research. In the EU alone, €620 million were assigned to rare disease research between 2007 and 2013.

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