Amidst the colourful tapestry of South Africa’s diverse society lies a realm often veiled from the mainstream narrative and known only to a select few. It’s a reality defined as rare, where those living with rare diseases navigate a labyrinth of challenges unknown to most.
Despite being uncommon, rare diseases impact as many as 300 million people worldwide1, and South Africa is no exception. More than 4.2 million individuals residing in the republic are living with a rare disease, of which 50 – 70% of these are some of the most vulnerable in society – children2.
Rare-X: Catalysts for change
As the healthcare sector commemorates Rare Disease Day on 29 February, the third biennial rare diseases conference, Rare-X 2024, held in Johannesburg this month brought together patients, clincians, policymakers, academics, government, and pharmaceutical companies from around the world to discuss the plight of rare diseases and find collaborative ways to improve patients’ lives and treatment efforts.
Central to the conference discussions was a focus on patient advocacy, education, policy reform, and improving equitable access to ensure better outcomes and support for individuals living with rare diseases.
Speaking at the conference, Dr Helen Malherbe, Director of Research & Epidemiology at Rare Diseases South Africa, and ad Associate Professor at the Centre for Metabolomics at North-West University, underscored the urgent need for collaboration, infrastructure development, and awareness to address the growing burden of rare diseases and congenital disorders.
“To discuss rare diseases effectively, it is imperative first to have a clear understanding of what they are and how they are defined,” says Malherbe. “Despite South Africa not having its own definition of a rare disease, Rare Diseases International, together with the World Health Organization (WHO), recently reached a consensus through an expert committee to describe a rare disease as a medical condition with a specific pattern of clinical signs, symptoms, and findings. A rare disease affects fewer than or equal to one in 2,000 persons living in any WHO-defined region”
“Most rare diseases are genetic in cause and so are also considered as congenital disorders – which are any potential pathological condition arising before birth, including all disorders caused by environmental, genetic and unknown factors, whether they are evident at birth or become manifest later in life.”
Rare diseases are present across the medical spectrum. Some are widely recognised by name, such as cystic fibrosis and sickle cell disease, while others are less known, such as cat eye syndrome. Among these are rare neurological and neuromuscular diseases, metabolic diseases, chromosomal disorders, skin diseases, bone and skeletal disorders, and rare diseases affecting the heart, blood, lungs, kidneys, and other body organs and systems.
Accessibility remains a significant barrier
While the conference highlighted numerous challenges faced by individuals living with rare diseases such as stigmatisation and discrimination due to their conditions, among others, accessibility emerged as a central theme in the dialogue.
Accessibility is intertwined across multiple facets of everyday life, ranging from healthcare provisions to support infrastructure, all reflecting the urgency required to address the needs of individuals living with dreaded diseases. A few of these issues include:
- Limited access to adequate healthcare services
Several factors, including an individual’s geographical location, coupled with the lack of specialised facilities, mean that those living with a rare disease struggle to access appropriate medical care and treatments.
- The escalating financial strain
Managing rare diseases can be financially burdensome for many patients and their families, particularly as the majority of treatments are costly, and often, not all are covered by medical aid schemes or offered in state healthcare services.
- Halted by research and treatment constraints
Rare diseases often receive less attention and research funding compared to more common conditions, resulting in limited treatment options and therapeutic interventions available for affected individuals.
“Given that only 5% of rare diseases have an FDA approved treatment, a staggering 95% of the rare diseases community lack access to necessary medical interventions3,” adds Malherbe. “It is imperative that we prioritise the needs of those who are denied access to treatment, focusing on obtaining a diagnosis, and enabling them to achieve their highest quality of life through the available services.”
- Lack of accurate diagnosis clouds knowledge
Accurate and timely diagnosis of rare diseases and congenital disorders remains a challenge. This extends to the underreporting and insufficient diagnosis of rare diseases, resulting in inaccurate estimations of their prevalence and impact on public health. So much so, that insights suggest that the surveillance system for congenital disorders in South Africa administered by the National Department of Health is underreporting these conditions by as much as 95%.
These challenges stem from as early as the pregnancy phase, where limited access to antenatal care and screening tools during pregnancy poses obstacles to the early detection of congenital anomalies, such as Down Syndrome. With only a small proportion of women in South Africa seeking antenatal care before 20 weeks of pregnancy and having access to high-resolution ultrasonography, many obvious conditions go undiagnosed until birth.
“To address these challenges, it is imperative to establish robust surveillance systems to obtain accurate data on disease prevalence, monitor trends, and inform public health policies and interventions effectively,” says Malherbe.
“Furthermore, there is a need to embrace new innovative technologies, such as mobile health applications for surveillance and diagnostic purposes, that can help mitigate some of the challenges associated with diagnosis, particularly in resource-constrained settings. Integrating these technologies into healthcare systems can enhance access to diagnostic tools and facilitate early detection, and, ultimately, improve patient outcomes.”
The sub-Saharan context
It is no secret that the sub-Saharan African region is experiencing a phase of rapid urbanisation. This, coupled with the fact that the population is set to double by 2050, and the region facing numerous health-related challenges, including limited access to healthcare, high rates of poverty and malnutrition, and a significant burden of infectious and chronic diseases, puts the region at significant threat of adequately meeting the health needs of the growing demographic.
“Given that 30% of the 8.5 million global congenital anomalies, and 38% of global deaths in children under the age of five due to congenital anomalies occur in sub-Saharan Africa, means that the region is under immense threat unless the challenges are mitigated,” adds Malherbe.
To address these challenges, collaborative efforts are required, including global partnerships, capacity building, improved surveillance systems, and policy initiatives. This includes a focus on prenatal care, newborn screening, genetic counselling and the involvement of patient organisations and communities in raising awareness.
The pursuit of equity, not equality
While there is a constant need for equality, which entails distributing resources to those with rare diseases to achieve an equal outcome compared to the general population, what is truly required is equity.
Equity will ensure that everyone, irrespective of their disability, is allocated the necessary resources and support based on the specific requirements of each condition. Doing so will level the playing field and provide everyone with an equal opportunity to thrive despite their health challenges.
Additionally, this will ensure compliance with the objectives outlined in the United Nations’ Sustainable Development Goals (SDGs). While several of these align with those impacted by rare diseases, the most pertinent is that of SDG 3, which calls for the good health and well-being of all.
Where to from here?
As we reflect on the challenges faced by individuals living with rare diseases, it is critical to recognise the power of collective action in driving positive change. From raising awareness, supporting advocacy efforts, contributing to research, and empowering those living with rare diseases, there is much that can be done to work towards a future where individuals with rare diseases receive the care, support, and recognition they deserve.
“Rare-X demonstrated the power of collaboration in building a future where every individual has the opportunity for a healthy, fulfilling life. Together, we can ensure that individuals with rare diseases receive the equity they deserve and that no one, irrespective of their condition, is left behind,” concludes Malherbe.