Breaking Cycle: Success Story Exposes Rare Disease Care Gaps 

By Nokukhanya Musi

Eswatini’s healthcare landscape is marked by significant challenges in addressing rare diseases, with many conditions progressing to disabilities due to research gaps, a lack of knowledge on how to diagnose, and a lack of support for affected individuals.

The country faces critical gaps in clinical research capacity, funding, and data-sharing, leaving rare disease communities underserved and often isolated.
Amahle Simelane, a 10-year-old, from Siphofaneni, is one such story. For a decade, Amahle lived with the debilitating effects of Blount disease, a rare paediatric orthopaedic disorder that causes bowlegs and mobility issues.

Blount disease is extremely rare, with a prevalence of less than 1% in the general population, and even lower in Eswatini. Without access to corrective treatment, Amahle’s condition would have led to permanent disability, limiting her future opportunities and quality of life.

In a groundbreaking collaboration, the Eswatini government partnered with Taiwan to arrange life-changing surgery for Amahle at Mbabane Government Hospital.
The successful operation, facilitated by Deputy Prime Minister Thulisile Dladla and Taiwan’s Ambassador to Eswatini Jeremy Liang, has given Amahle a new lease on life. She is expected to regain normal mobility and requires eight weeks of bone healing and five months for full recovery.

However, Amahle’s story is not the only one. Philile Ndlela’s 21-year-old daughter Miselo, born with cerebral palsy, illustrates the harsh realities faced by families living with rare diseases in Eswatini.

Cerebral palsy is a rare neurological disorder that affects movement, muscle tone, and coordination, with an estimated prevalence of 2-3 per 1,000 births in Eswatini.
Philile’s daughter was born with cerebral palsy due to a blood clot in her head, which occurred when she was just three months old.

 “She had two operations in South Africa to remove the clot, and the doctors told us she would never be normal again,” Philile recalls.

Despite the challenges, Philile has dedicated her life to caring for her daughter.
Philile’s story is one of resilience and determination.
“I wake up and give her a bath and feed her,” she says, her voice filled with love and exhaustion. “She’s heavy to lift, and it’s challenging to give her enough attention since I work.”

Philile’s experience underscores the need for improved support systems for families living with rare diseases in Eswatini.

The government’s meagre E450 (approximately $24.50 USD) monthly grant barely covers her basic needs, and more needs to be done to address the systemic gaps in healthcare and social support.

To understand the systemic context surrounding Amahle and Miselo’s case, Inhlase spoke with Simay Neves, Acting Director at the Deputy Prime Minister’s Office (DPMO). 

Offering valuable insights into Eswatini’s approach to rare disease management, Simay says, “An overview of the current landscape reveals several critical gaps in research, diagnosis, and support for rare conditions, many of which remain undetected and ultimately contribute to disability,” Simay explains.
“A further challenge within the country is the limited clinical research capacity, which remains thinly spread and insufficient to address the needs of rare disease communities adequately,” she further says.

When asked about post-surgical care and long-term follow-up, Simay redirects the inquiry to the Ministry of Health, emphasising the DPMO’s role in referring cases for expert evaluation and intervention.

Simay points out that the lack of a dedicated Disability Information System and a rare disease registry means that data is currently captured through broader national mechanisms.
“The establishment of a comprehensive Disability Information System has been included in the Deputy Prime Minister’s Office five-year plan, signalling a commitment to strengthening data collection and management in the future,” she notes.

In linking families to support services, Simay referenced the 2024 Handbook on Disability Mainstreaming and Disability-Inclusive Budgeting, which outlines referral pathways through community-based organisations, social workers, and partnerships with organisations such as the Federation of the Disabled in Eswatini (FODSWA).

Amahle’s mother, Jabulile Ndzimandze, expressed gratitude for her daughter’s operation, saying, “I’m so relieved to see Amahle recovering and looking forward to a brighter future.”

Amahle’s story highlights the urgent need for improved rare disease management in Eswatini, from early detection to treatment and long-term support.

As Simay Neves emphasises, addressing these gaps will require sustained investment, coordinated data infrastructure, and inclusive approaches that prioritise patient perspectives.

Nokukhanya Musi is a Foundation Ispen/ National Press Foundation fellow for the 2025 Covering Rare Disease Media Fellowship.