Rabia Mayet | rabiamayet@radioislam.co.za

25 March 2026

4-minute read

Rare disease: a topic that is not very well understood, often under-researched and for the most part remains on the periphery of public health conversations, yet its impact is deeply felt by millions worldwide. In a recent interview with Radio Islam, Monique Nel, the Medical Lead and Medical Manager for the Rare Disease portfolio at Sanofi South Africa, shared valuable insights into the challenges and progress being made in the field of rare diseases within the country.

Although each rare disease may only affect a small number of individuals, together they impact over 300 million people globally, with many cases beginning in childhood. While the word “rare” is used to describe these conditions, it is actually a “public health challenge” where one in 15 people in South Africa is affected with a rare disease. Behind every number is a person, a family, and a journey that is often filled with uncertainty, Monique explains, and while every patient’s story is “unique in different ways,” their challenges are very similar. The road for many patients is long and arduous, involving multiple consultations, difficulty in accessing expert treatment, delays in diagnosis or misdiagnosis, lack of awareness among healthcare professionals, navigating the healthcare system, and challenges in treatment and ongoing care.

Monique has been at the forefront of improving the rare disease landscape in South Africa, and she says that the “never giving up attitude” of these patients is what drives her to do what she does. Sanofi works closely with a range of stakeholders, including healthcare professionals, policymakers, and patient communities, with a mission to raise awareness, identify patients’ needs, drive education and change, support local laboratories, and be the voice for these patients. South Africa has “very strong and passionate patient advocacy groups,” she notes, who play the frontline role and partner with industry such as Sanofi to ensure that patients with rare diseases are supported throughout their journey.

Each patients “diagnostic odyssey,” from the point of the first symptom to the point of diagnosis is challenging in different ways. Then comes the “treatment odyssey” where funding and access become a problem to get and stay on treatment for long-term benefits. Sanofi’s role in helping these patients is to improve awareness, strengthen the diagnostic process, and provide support.  Access, Monique points out, is not just about the existence of treatments but whether patients can actually reach, afford, and continue with these therapies. This highlights the importance of building systems that are inclusive and compassionate, ensuring dignity and confidence for all patients, regardless of their diagnosis.

The conversation goes beyond diagnosis, Monique emphasises, to the deeper and more important question of equity. Equity does not mean equal spending across the board, rather, it means that there is a fair opportunity for every patient to be diagnosed and receive the correct treatment and ongoing support, no matter how rare their condition, and that “no patient is left behind.”

“Equity starts with visibility,” says Monique, and each patient must be counted, recognised, included and accommodated. Research is another cornerstone in the journey toward better care. Each story, each case, contributes to a broader understanding that can shape better care, better policies, and ultimately better outcomes. She underscores that representation in research is essential, as diverse communities experience healthcare differently, and their voices must be heard.

Advocacy and collaboration are equally vital. Progress is made when all parties—healthcare professionals, organisations, policymakers, and patient advocates—come together with a shared purpose. There is also the misconception that treatment for rare diseases is very expensive, but Monique says that the bigger issue is that of access to treatment. “Time, for these patients is simply one thing that they don’t have,” because the disease sometimes progresses rapidly and irreversibly.

Ultimately, the rare disease conversation is not just a medical issue but a profoundly human one. It is about recognising the unseen struggles, making it part of healthcare and budget conversations and policies, and striving for a healthcare system that is truly responsive and inclusive.

Listen to the full interview with Faaiza Munshi and Monique Nel here.