Today is Rare Disease Day (February 28) and, as such, we shine a spotlight on rare diseases and how they impact thousands of children worldwide. Did you know that approximately 50% of the people affected by rare diseases are children?
Of these young patients, 30% will not live to see their fifth birthday. Furthermore, rare diseases are responsible for 35% 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 about rare diseases, Rare Disease Day takes place today.
This year’s global theme is “Share Your Colours”, and everyone is encouraged to decorate their home with the Rare Disease Day colours – pink, green and blue.
Rare diseases in South Africa
Rare Disease Day has taken place every year since 2008, and events are now held in more than 80 countries. The reality is that millions of people across the world feel confused, frustrated and isolated because they live with a rare condition. Rare diseases are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease. Relatively common symptoms can hide underlying rare diseases, leading to misdiagnosis and delaying treatment. 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
- 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,” says Professor Michele Ramsay, director & research chair, Sydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand.
“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.”
You are not alone
She says 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,” says Michele. “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.”
Because rare diseases are indeed 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. Importantly, the organisation also supports initiatives to help educate parents on symptoms to look out for, and of the need to take their children to see a doctor when they do not meet certain developmental milestones.
“The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives,” says Kelly du Plessis, CEO of RDSA.
Affects more than 300 million people worldwide
In reality, rare diseases – which comprise more than 7 000 conditions of which the vast majority have no cure – are not rare at all. It is estimated that more than 300 million people worldwide suffer from ‘rare’ diseases. The global statistic is that one in 10 are affected by a rare condition and although there is no disease registry in South Africa, there is a high number of people affected by rare diseases who are undiagnosed.
Most rare diseases are genetic
“Generally, 80% of rare diseases are of genetic origin, and are often chronic and life-threatening,” says Ramsay. “This is why RDSA works in partnership with Genetic Alliance South Africa, an organisation which focuses on rare and common disorders with a genetic basis. GA-SA unites patient support groups, healthcare professionals and other stakeholders relevant to the care and prevention of congenital disorders. Together, we aim to make a difference to awareness of rare diseases in South Africa.”
These patients’ quality of life is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of their disease, which are essentially disabling.
“We urge people to support those living with rare diseases throughout the year by volunteering at our events, donating towards our projects, becoming activists and swimming, cycling or running for rare diseases, and helping us to create greater awareness by educating those around you,” says Du Plessis.
For more information, visit Rare Diseases South Africa, on Facebook, facebook.com/rarediseasesSA
Sources: Rare Diseases South Africa: //www.rarediseases.co.za/rare-disease-facts; Rare Genomics Institute: //www.raregenomics.org/rare-disease-facts; Rare Diseases UK: https://www.raredisease.org.uk/what-is-a-rare-disease
