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Promoting access and equity for people affected by rare diseases

The Third Biennial Rare Diseases Conference, Rare X 2024, took place at the Indaba Hotel in Johannesburg from 14 to 17 February, bringing together patients, healthcare professionals, and stakeholders in the rare disease community in a collaborative space to engage on rare diseases and their treatments. As a hub for South African, African, and international participants, the conference provided a platform for the exchange of ideas, offering academic and scientific insights while emphasising the importance of patient, caregiver, and support group experiences.

“The scarcity of genetic specialists, high costs, and limited access to advanced treatments make it challenging to manage rare diseases and congenital disorders in South Africa and on the continent,” said Kelly du Plessis, CEO & Founder of patient support group, Rare Diseases South Africa. “Rare X plays a pivotal role in advocating for the 4.1 million South Africans affected by these conditions, so that they can experience greater recognition, support, improved health services and better overall quality of life.”

Addressing the critical need for medical education programs in low- and middle-income countries,  Prof Christian Hendriksz, extra ordinary Professor of Paediatrics and Child Health at the Steve Biko Academic Unit, University of Pretoria, and extra ordinary Professor of Human Metabolomics,  North-West University, Potchefstroom, spoke about the significant step forward in healthcare equity and the provision of patient support in Africa.

Prof Hendriksz and his team have taken an inclusive and collaborative approach to addressing rare diseases on the continent. Meeting on virtual platforms, he has brought together people from 19 African countries, including clinicians, laboratory staff, and patient organisations. They found that there’s a noticeable lack of understanding about rare diseases among African political leaders, along with many misconceptions. A common belief is that rare diseases either don’t exist or are less important compared to major health issues like TB and HIV. This mindset hinders progress because without proper diagnosis, patients cannot be identified and treated. To change these views, there’s a need for education and awareness campaigns, along with the adoption of strategies that focus on the patients’ needs.

One of the major challenges Prof Hendriksz highlighted is the logistics of sample transportation and the urgent need for diagnostic services that are practical and sustainable. Through specialised training sessions at North-West University and the creation of a comprehensive network, significant advancements are being made in disease awareness, patient support, and diagnostic capabilities.

Looking ahead, Prof Hendriksz aims to enhance diagnostic and support pathways further, prioritising the development of local capacities.

Head Of Research at the Board of Healthcare Funders (BHF), Charlton Murove, explained that the BHF aims to ensure affordable access to healthcare services for all citizens. This is part of a broader initiative to improve the overall health system by establishing key relationships with various stakeholders and focusing on medical screenings and solutions for high-risk populations. The challenge lies in the complexity of conditions and the high costs associated with treatments, particularly for rare diseases. The BHF is exploring innovative solutions to mitigate these challenges, such as the creation of a pooled funding mechanism to smooth out the financial impact of high-cost treatments across participants. This approach aims to enhance efficiency, maintain funds within medical schemes, and ensure equitable access to necessary treatments.

According to Murove, the proposed system would allow for collective bargaining, potentially leading to negotiated price reductions and improved access to care. However, implementing such a system requires navigating legal, financial, and regulatory frameworks and a more cooperative attitude among medical schemes and stakeholders would be needed. The ultimate goal is to ease the financial burden on schemes and patients alike, ensuring sustainable access to critical treatments while promoting fairness and transparency in healthcare funding.

Meliska Volschenk, Head of Payer Solutions and National Accounts at global pharmaceutical company, Sanofi, and a participant in the Rare Diseases Access Initiative (RDAI) which aims to enhance equitable access to care for patients with rare diseases in South Africa, spoke of the need for collaboration across the healthcare spectrum to address the unique challenges faced by rare disease patients, such as life-threatening conditions, the need for specialised care, and often the lack of curative treatments.

“Recognising the significant impact of rare diseases on individuals, families, and the healthcare system, there is an urgent need for a national policy to ensure a coordinated approach to rare diseases,” said Volschenk. “South Africa, like many countries, lacks a comprehensive strategy to address these challenges effectively.”

To tackle the issues head-on, Volschenk said the Rare Disease Initiative (RDAI) has outlined six strategic priorities within a proposed national framework and strategy for rare diseases. These priorities include ensuring early and accurate diagnosis, improving access to treatments, enhancing data collection, providing coordinated care, improving access to services, and boosting collaborative research.

“The RDAI is working to improve healthcare for rare disease patients in South Africa by gradually introducing changes and involving different groups, including health organisations and government departments, in their efforts,” said Volschenk. “We are organising meetings and discussions with these groups to come up with practical changes and new policies aimed at better support and care for patients with rare diseases. This shows RDAI’s dedication to making the healthcare system fairer and more effective for people with rare conditions, ensuring they get the help and treatment they need.”

Overcoming the hurdles of rare disease care requires a united front, comprising healthcare professionals, policymakers, patient advocacy groups, and the pharmaceutical industry, said Prudence Selani, Head of Communications at Sanofi South Africa. The call to action is clear: to embrace a multifaceted approach that includes enhancing medical education, establishing a national policy for rare diseases, and developing a healthcare ecosystem that prioritises patient-centred strategies, affordability, and access to cutting-edge treatments. “That is how we can best contribute to a sustainable and equitable healthcare system for one of the most vulnerable patient groups,” said Selani.

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