Amongst the intricacies of South Africa’s healthcare landscape, a silent but significant challenge lurks – the prevalence of rare diseases. Behind the curtain of mainstream medical discourse, millions grapple with the complexities of these often overlooked conditions, a stark reality often overshadowed by the glare of more prevalent health concerns.
With more than 7000 identified rare diseases to date, they affect as many as 4.2 million South Africans, of which 50 – 70% are children1. These conditions are more prevalent than predicted, each posing unique and often debilitating challenges for patients and families alike.
With 29 February commemorated as Rare Diseases Day, Rare Diseases South Africa (RDSA), is hosting its third biennial rare diseases conference, Rare-X 2024, at the Indaba Hotel in Fourways, from 14 to 17 February.
More than just a conference, Rare-X 2024 will focus on patient advocacy, education, policy reform, and improving equitable access to ensure better outcomes and support for individuals living with rare diseases.
As the first in-person conference since the COVID-19 pandemic, the event brings together patients, policymakers, academics, government and pharmaceutical companies to discuss the plight of rare diseases and find collaborative ways to improve patients’ lives and treatment efforts.
The conference will comprise several activities, including keynote speeches by renowned experts in rare diseases; interactive panel discussions; workshops and training sessions; scientific presentations; networking opportunities and policy roundtables.
Some of the renowned speakers to share their insights and global developments on rare diseases include Prof Alex van den Heever, Chair of Social Security Systems Administration and Management Studies at the Wits School of Governance; Professor Fatima Suleman, Professor in the School of Health Sciences at the University of KwaZulu-Natal; and Professor Chris Hendriksz, Global Clinical Development Lead for Rare Diseases at Nestle Health Science, amongst others. Bringing a wealth of practical experience following his work with health professionals, will be traditional health practitioners (THPs), Mr Elliot Makhathini and Dr Conradie from North-West University’s Centre for Human Metabolomics, to name a few.
A rare disease relates to a condition that is considered rare when it affects one person in 20002. Currently, South Africa does not have its own definition of a rare disease, which is one of the major issues that need to be addressed by the government3.
As a patient-focused non-profit organisation, RDSA was launched in 2013 by CEO and Rare-X Director, Kelly du Plessis. The mother of a child with a rare condition, du Plessis realised the dire need for support for a highly under-acknowledged community, with the organisation advocating that people living with rare diseases and congenital disorders experience greater recognition, support, improved health services, and overall, a better quality of life.
“Despite the need for increased representation, the rare diseases community remains vulnerable from a medical and policy perspective,” says du Plessis. “As part of our mandate, RDSA brings together international best practice and local medical innovation, driving a collective voice and playing a fundamental role in bridging the gap between vulnerable communities and medical advancement.”
To date, RDSA has successfully launched initiatives that have positively impacted the lives of over 6500 patients including engaging with various governmental departments, organs of state, industry players and strategic stakeholders to raise awareness and move rare disease policy forward.
For more information on the Rare-X conference, kindly visit www.rare-x.co.za
References:
1. Marhebe, HL. Introducing the South African Rare Diseases Access Initiative. SAMJ. 2023;113(8).
2. Reserved IUA. Orphanet: About rare diseases [Internet]. [cited 2024 Feb 2]. Available from: https://www.orpha.net/consor/cgi-bin/Education_AboutRareDiseases.php?lng=EN
3. FAQs [Internet]. Rare Diseases SA. [cited 2024 Feb 2]. Available from: https://www.rarediseases.co.za/faqs
