eHealth News, South Africa

Rare Disease Day Highlights the Importance of Research

Rare Disease Day aims to raise awareness about rare conditions, the people they affect, and research collaborations that are making a difference.

Rare Disease Day - EHN

Today marks Rare Disease Day, a global campaign which takes place on the last day of February each year, to raise awareness about rare conditions, the people they affect, and research collaborations that are making a difference.

This year the campaign will highlight the importance of research for rare diseases.

It is estimated that more than 300 million people worldwide suffer from rare diseases, with 1 in 10 people  affected by a rare condition and, although there is no disease registry in South Africa, it’s believed that there is a high number of people affected by rare diseases who are undiagnosed.

Joining the global call to improve the lives of those impacted by rare diseases is non-profit organisation Rare Diseases South Africa (RDSA), who helps patients affected by these diseases to access life-saving treatment and supportive care for improved quality of life.

According to the RDSA, there are approximately 7,000 different types of rare diseases and disorders, with Guillain-Barre syndrome; Scleroderma; Juvenile Idiopathic Arthritis and Neurofibromatosis being among the most common in SA.

RDSA focuses on educating the public about these medical conditions, their prevalence in SA and works to create empathy for people who are ill, and for parents with sick children.

The organisation recently hosted a Denim Walk and picnic in Johannesburg, giving the public the opportunity to support those affected by rare conditions and patients the opportunity to meet and interact with one another.

“The main objective of Rare Disease Day, and the Denim Walk, is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives,” said RDSA CEO, Kelly Du Plessis. “Among the greatest challenges for parents and children living daily with rare diseases, is general 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.”

“This is the one day where all members of the public can unite and be aware of the plight of those patients affected by rare conditions. 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,” continued Du Plessis.

RDSA 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 suffering from the same disease. Relatively common symptoms can hide underlying rare diseases, leading to misdiagnosis and delaying treatment.

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.

Because rare diseases are indeed individually rare, and very diverse, the RDSA says 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.

“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 conditions,” said Director and Research Chair at the 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. Affected families become part of a community who can share experiences and advice, and are supported by dedicated healthcare workers,” continued Prof Ramsay.

“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,” concluded Prof Ramsay.

The RDSA works in partnership with Genetic Alliance South Africa, an organisation which focuses on rare and common disorders with a genetic basis. The organisation unites patient support groups, healthcare professionals and other stakeholders relevant to the care and prevention of congenital disorders. Together, the two organisations aim to make a difference to awareness of rare diseases in South Africa.

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