The European Union states that a condition is considered rare when it affects fewer than one person out of every 2000. Rare Diseases South Africa (RDSA) estimates that medical conditions affect 3.6 million individuals in South Africa.
According to Rare Diseases SA, most rare diseases are believed to be caused by factors explicitly in genes or chromosomes like Huntington’s disease. However, it’s important to note that not all rare diseases are inherited. Some can be attributed to infections, chronic liver conditions (such as African iron overload), rare types of cancers (like pancreatic cancer) and even autoimmune disorders (such as hemolytic anemia). According to Rare Diseases SA, the lack of a definition for rare diseases in South Africa is a significant issue that the government needs to address.
Rare Diseases Challenges in South Africa’s Health Care System
It is concerning that many hospitals in the country do not keep records of diagnoses, which poses a challenge for researchers. This problem is compounded by the limited funding to researchers in South Africa compared to developed countries.
Rare Diseases SA reported that despite spending 8.5% of GDP on health care, South Africa’s health outcomes are among the poorest globally. According to World Bank, while South Africa has seen some improvements in poverty reduction since 1994, around 55.5% (equivalent to 30.3 million individuals) of the population still find themselves living below the upper poverty line, which is approximately ZAR 992. Additionally, a significant number of people, totaling around 13.8 million individuals (25%), face food poverty. There is a shortage of expertise in both the private sectors to identify and diagnose rare diseases in South Africa.
Additionally, the exorbitant cost of medications used to treat these diseases often makes them inaccessible.
According to Jacobson, rare diseases pose a challenge for health care practitioners who often lack the awareness and expertise for diagnosis, timely referral and appropriate management due to their rarity. As a result, patients may go undiagnosed, be misdiagnosed or experience delays in receiving a diagnosis. This lack impacts not only their health but also their socioeconomic status, family life, educational and employment opportunities and overall participation in society. The consequences of this can create a cycle of vulnerability and poverty.
Even when rare diseases are correctly identified, individuals with conditions face obstacles in accessing necessary treatment and health care services. In South Africa, diseases are not considered within health care planning and policy-making processes. Additionally, patients often encounter neglect or dismissal from health care funders, further delaying treatment and denying their access to health care altogether.
Rare Diseases South Africa (RDSA) and Advocacy
Established in 2013, Rare Diseases South Africa (RDSA) is a for-profit organization that advocates for individuals affected by rare diseases and congenital disorders. Their mission is to ensure these individuals receive recognition, support, improved health care services and a better quality of life. Over the years, RDSA has successfully implemented initiatives that have impacted the lives of more than 1,800 patients. It has actively engaged with departments, state organizations, industry leaders and other key stakeholders to raise awareness about diseases and advance policies related to them.
Today, RDSA combines standards and local medical breakthroughs working together to advocate for marginalized communities and connect them with advancements in health care.
- Advocate: Publicly recommend or support by representing patients affected by rare diseases.
- Navigate: Ensure that patients with diseases and congenital disorders have a well-supported journey from the moment they start experiencing symptoms until the end of their lives.
- Engage: Work with society and the small community to establish awareness and networking opportunities for rare diseases and congenital disorders in South Africa.
- Research: Rare Research is dedicated to addressing matters that revolve around the needs of patients in both global communities affected by rare diseases and congenital disorders.
Although rare diseases are a significant problem in South Africa, it is good to know efforts are underway to mitigate them and provide treatment. Through their continued work, hopefully, rare diseases will be eliminated.
– Aysu Usubova