Rare Disease Day: we need more research!


Approximately 50% of the people affected by rare diseases are children. Of these young patients, 30% will not live to see their 5th birthday.

To save these kids' lives, more research needs to be done – and they need public support.

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 2017. This year’s global theme is "Research", a topic lose to the hearts of everyone who seeks to bring hope to people living with a rare condition. 

The reality is that millions of people across the world feel confused, frustrated and isolated because they live 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 (EDS), Hirschsprung disease, Turner syndrome, fragile X syndrome (Martin-Bell syndrome), and Williams syndrome

Why research is important for everyone's health

“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, Director & Research Chair, 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," she continues. "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.” 

"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," she says.

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.

You're not alone

"It is important for families affected by rare diseases to know that they are not alone," adds Ramsay. "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.

Rare Diseases South Africa (RDSA) helps 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. As part of a public awareness campaign, non-profit organisation RDSA hosted a Denim Walk, followed by a picnic this Sunday past at Walter Sisulu Botanical Gardens in Roodepoort. This wheelchair-friendly family event was an opportunity for the public to get up and physically do something for those suffering with rare conditions. What’s more, it also gave patients the opportunity to meet and interact with one another. The event was held in Johannesburg this year, but there are plans to take it nationwide in 2018.

RDSA helps patients affected by these diseases to access life-saving treatment and supportive care for improved quality of life. RDSA focuses on educating the public about these medical conditions, and how prevalent they are in SA, and elsewhere. The organisation works to create empathy for people who are ill, and for parents with sick children.

Importantly, they also support 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, and the Denim Walk, is to raise awareness among the general public and decision-makers about rare diseases and their impact on patients' lives,” says Kelly du Plessis, CEO of RDSA. “Rare Disease Day has taken place every year since 2008, 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. Our hope is for recognition. 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.”

In reality, rare diseases – which comprise more than 7 000 conditions for 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 1 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. 

“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.”

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 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,” says Du Plessis.

“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.”

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.

Fast 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. In Europe, the number is also approximately 30 million.
  • About 1 in 10 people globally have a rare disease. So it can be estimated that in South Africa roughly 3.6 million people are affected.
  • International definitions of rare diseases vary. 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. In South Africa, rare diseases are under-diagnosed and therefore we cannot define them according to the number of affected individuals. 
  • 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. 

Visit Rare Diseases South Africa on Facebook.

Does your child live with a rare disease? What are the symptoms, how was it diagnosed, and what treatment do they receive? Do you feel supported? Send your stories for possible publication to chatback@parent24.com to share your experience.

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