One in 10 people across the globe is affected by a rare condition. Today the world, including South Africa, will mark the 10th annual Rare Disease Day.
According to statistics released by Rare Diseases South Africa (RDSA), about 50% of people affected by rare diseases are children.
Taking this further, about 30% will not live past their fifth birthday, with rare diseases also being responsible for 35% of deaths in the first year of life.
It’s estimated that in South Africa, roughly 3.6 million people are affected by rare diseases, while worldwide the number of sufferers is estimated at 350 million.
Public support for ongoing research 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 the last day of February every year.
This year’s global theme is “Research”, a topic that is close to the hearts of everyone who seeks to bring hope to people who are living with a rare condition.
There are about 7 000 rare diseases. The most common in South Africa include the auto-immune disorder Guillain-Barré syndrome; connective tissue diseases such as Marfan syndrome and scleroderma; as well as neurofibromatosis, which is a genetic disorder that causes tumours to form on nerve tissue; and Turner syndrome, a chromosomal condition that affects development in females.
“Rare diseases are often difficult to diagnose and treat, but through research they provide a window into the way our bodies work,” says Professor Michele Ramsay, the director and research chair at the Sydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand.
“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 develop new methods for faster and more accurate diagnosis. This, in turn, may lead us to better treatment and management of the condition,” she says.
“It is important for families affected by rare diseases to know they are not alone.”
Ramsay emphasises that somewhere there is someone with a similar disorder and, through support groups and social 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,” Ramsay explains.
Rare diseases are individually rare and diverse, and 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.
As part of a public awareness campaign, RDSA hosted a Denim Walk on Sunday at the Walter Sisulu Botanical Gardens in Roodepoort.
This wheelchair-friendly event gave people the opportunity to get up and physically do something for those suffering with rare conditions. It also gave patients suffering from rare diseases the opportunity to meet and interact with one another.
RDSA helps patients to access life-saving treatment and supportive care for improved quality of life.
RDSA focuses on educating the public about these medical conditions. 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 don't meet certain developmental milestones.
“The main objective of Rare Disease Day, and the Denim Walk, is to raise awareness among the public and decision-makers about rare diseases and their impact on patients’ lives,” says Kelly du Plessis, the chief executive of RDSA.
Du Plessis adds that Rare Disease Day has taken place since 2008, and events are now held in more than 80 countries.
“The campaign also targets policymakers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.
“While we realise that many of these conditions are years away from having targeted treatments, it is never too late to make our patients feel as though their lives matter,” she stresses.
According to Ramsay, about 80% of rare diseases are genetic and are often chronic and life-threatening.
“This is why RDSA works in partnership with Genetic Alliance South Africa (GA-SA), an organisation that 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,” she says.
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. Relatively common symptoms can hide underlying rare diseases, leading to misdiagnosis and delaying treatment.
“Among the greatest challenges for parents and children living with rare diseases is the lack of awareness and understanding from those around them, difficulty in obtaining an accurate diagnosis, the feeling of being isolated, and the financial toll that illness takes on families,” explains Du Plessis.
“The fact that there are often no existing effective cures adds to the high level of pain and suffering endured by patients and their families.
“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,” she adds.
“We urge people to support those living with rare diseases by volunteering at our events, donating to our projects, swimming, cycling or running for rare diseases, and helping us to create greater awareness by educating those around you,” Du Plessis says.