Rare Disease Day puts spotlight on research and awareness
Because rare diseases are individually rare, and very diverse, research needs to be international to ensure that experts, researchers and clinicians are connected, that clinical trials are multinational and that patients can benefit from the pooling of resources across borders.
APPROXIMATELY 50 per cent of people affected by rare diseases are children.
Of these young patients, 30 per cent will not live to see their fifth birthday.
Rare diseases are responsible for 35 per cent of deaths in the first year of life. Public support for ongoing research efforts is crucial to saving lives.
As part of a worldwide campaign to raise awareness for patients, families and carers who are affected by rare diseases, Rare Disease Day takes place on Tuesday, 28 February.
This year’s global theme is Research, a topic that is close to the hearts of anyone who seeks to bring hope to people living with a rare condition.
Among the most common rare diseases in South Africa are Guillain-Barré syndrome, scleroderma, Marfan syndrome, juvenile idiopathic arthritis, neurofibromatosis, Ehlers-Danlos syndrome, Hirschsprung disease, Turner syndrome, fragile X syndrome, and Williams syndrome.
“Rare diseases are often difficult to diagnose and treat, but through research they provide a window into the way our bodies work. They may uncover important clues that can be translated into better health for many. In Africa, rare diseases have not been widely studied and there are numerous people who remain undiagnosed. Research can help to develop new methods for faster and more accurate diagnosis. This in turn, may lead us to better treatment and management of the condition,” said Director and Research Chair, Sydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand, Professor Michele Ramsay.
“It is important for families affected by rare diseases to know that they are not alone. Somewhere there is someone with a similar disorder and through support groups and electronic media they can be found. Affected families become part of a community who can share experiences and advice, and are supported by dedicated healthcare workers.
“‘Researchers benefit from studying groups of people with similar rare diseases because they can put together the different pieces of a puzzle to understand the mechanisms that lead to the disorder. South Africa and the continent need more support for research to improve the health outcomes of its people.”
Quick facts about rare diseases
– It is estimated that 350 million people worldwide suffer from rare diseases.
– There are approximately 7 000 different types of rare diseases and 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. As it has been established that about 1 in 10 people globally have a rare disease, 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 cannot be defined 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 per cent 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 per cent of the people affected by rare diseases are children.
