International Rare Disease Day: Spotlight on South Africa’s Unseen Struggles

As International Rare Disease Day approaches on February 28, numerous individuals across South Africa continue to confront the challenges posed by rare diseases. While these illnesses may affect a small number of people individually, collective estimates suggest that over three million South Africans are living with these conditions, underscoring the urgent need for awareness and improved healthcare strategies.

Mpho Matseka, now 21, recalls his childhood filled with frequent injuries and illnesses that left family and doctors puzzled. Initially thought to be just a particularly troublesome child, Mpho later discovered he had Ehlers-Danlos Syndrome, a hereditary connective tissue disorder. “I remember lying in the hospital surrounded by doctors flipping through medical books, trying to unravel what was wrong with me,” he shares. A crucial diagnosis came when a medical student identified his condition from a textbook, allowing him access to targeted treatment and genetic testing.

Despite the challenges of his condition, which now includes related issues such as epilepsy and hidradenitis suppurativa, Mpho remains grateful for the healthcare he received in South Africa’s public system. “Coming from a low-income background, I can’t complain about the long waits at the clinic because the care I receive is vital for my well-being,” he explains.

In another part of Johannesburg, Lebohang Leuta cares for her 15-year-old son diagnosed with neurofibromatosis type 1. This lifelong condition brings challenges such as benign growths under the skin, hearing loss, and learning disabilities. Initially overwhelmed by the diagnosis, she transformed her anguish into advocacy, founding a nonprofit organization aimed at improving awareness and care for young people with disabilities. “My child’s condition shattered me in ways I didn’t expect, but it has also made me a warrior,” she says.

Lebohang and Mpho have navigated the healthcare system in search of support. Despite receiving care at the well-known Chris Hani Baragwanath Academic Hospital, they encounter slow processes and an apparent lack of awareness among healthcare practitioners about rare diseases. “As a mother, it’s exhausting to explain my child’s condition repeatedly to healthcare providers who should already be knowledgeable,” Lebohang adds.

Notably, both Mpho and Lebohang’s experiences reveal a broader trend in South Africa. Rare diseases—defined by their rarity as affecting fewer than one in 2,000 people—are common in their cumulative impact. Experts estimate that globally around 6% to 8% of the population is affected by these conditions, which translates to potentially more than four million South Africans facing similar challenges.

Nomsa Mtshali, Head of Patient Services at Rare Diseases South Africa, notes that many individuals in the country remain unidentified, likely living with undiagnosed rare conditions. “We haven’t found all the patients yet,” she says, emphasizing the importance of improving diagnostic processes. The push for integrated healthcare policies addressing rare diseases collectively has gained momentum, as there is a recognition of the limitations of addressing each condition in isolation.

In a pivotal moment for global healthcare, the World Health Organization has recognized rare diseases as a priority, launching a ten-year plan aimed at improving care and diagnosis worldwide. South Africa’s participation in this initiative is crucial as local policies are crafted to enhance access to healthcare for those with rare conditions.

Despite the existing policies, many rare diseases are not adequately addressed in practice. Helen Malherbe, an Associate Professor at North-West University, highlighted the need for a cohesive approach. “We have many policies in place, but execution is lacking; there’s often no budget or resources dedicated to these services,” she explains.

The struggle for access to care is aggravated by limited genetic testing capacities, which were scaled back in the public health sector. Notably, newborn screening, which could identify numerous rare conditions, was halted in the 1980s. Dr. Shahida Moosa of Tygerberg Hospital mentions that while the 2021 guidelines endorse screening, implementation is still not realized.

The challenges extend to the lack of genetic specialists, with fewer than a dozen qualified professionals available to serve the entire population. “We are essentially training geneticists for other countries,” she laments.

Once diagnosed, many rare diseases lack accessible treatments within South Africa. Over 90% of existing treatments remain out of reach for patients, leading to burdensome costs and ineffective care strategies when individuals must seek costly alternatives.

As these realities unfold, the voices of patients like Mpho and Lebohang bring to light the need for improved support systems. “Every day my child fights battles that others cannot see,” Lebohang articulates. “To advocate for change, we require awareness, compassion, and accountability.”

As International Rare Disease Day approaches, South Africa stands at a crossroads—facing significant challenges but also the opportunity to enhance policies that can bring hope to millions living with rare conditions. The stories of those affected serve as a powerful reminder of the urgent need for systemic change in healthcare access and treatment.

— Reported by Nexio News