Most people with rare diseases in South Africa—70% of whom are children—remain undiagnosed due to lack of resources. As families fight for access to life-saving healthcare, advocacy groups work to bridge the gap and push for reforms.
For many people living with a rare disease in South Africa, getting an accurate diagnosis can be a long process. Photo: UNMEER/Simon Ruf
Fatima Wentzel has not been able to work since her seven-year-old daughter Safaa’s condition worsened a few months ago. “I always have to be on call. When she’s not at school, she is with me. And I monitor her closely,” she explains. The 35-year-old mother used to support herself and part of her family by running a one-person catering business from her home in the suburban neighbourhood of Ahtlone, a predominantly Coloured area located to the east of the city centre of Cape Town, South Africa.
“Sometimes she gets minor side effects; sometimes they’re major. She could be playing and running around and all of a sudden you’d hear her cough. And then the following hour, she’d have an anaphylaxis episode, which means she wouldn’t be able to breathe,” Wentzel says.
Safaa was recently diagnosed with lipid transfer protein allergy syndrome: a complex and widely unknown food allergy caused by reactions to plant foods. But Wentzel believes that the description of an allergy doesn’t quite illustrate the scope of her daughter’s condition. “She also has gastritis, so she has acid in her stomach. And on top of that, she has asthma and eczema. Her surrounding environment and the weather also trigger her symptoms,” she says.
Every meal is a potential crisis and every reaction a race against time. Wentzel has repeatedly found herself rushing to the Red Cross War Memorial Children’s Hospital, located roughly 10 minutes away—“if I drive fast,” she says.
Without the comfort of readily available emergency interventions, the mother hesitates, uncertain about administering an EpiPen, knowing that once the reaction starts, every second counts. “It’s like leaving everything, leaving life behind and just saving her life because her condition is lethal,” Wentzel adds.
Safaa is one of two people in South Africa known to suffer from this rare condition, according to the professors in charge of managing her care at the hospital. The condition is more common in adults as well as people living in Mediterranean countries.
This reality has made it all the more complicated to navigate living in Cape Town. So far, Safaa hasn’t qualified for a grant or funding for the expenses that come with dealing with her syndrome on a daily basis. As Wentzel puts it, knowing that there isn’t any cure or treatment means “we do everything we can to avoid an emergency. But we remain on high alert.”
Most rare diseases go undiagnosed
Rare diseases—which, unlike Safaa’s syndrome, are largely genetic conditions—impact 4.2 million South Africans, or one in 15 people, yet remain largely overlooked by the healthcare system.
For many people living with a rare disease, getting an accurate diagnosis can be a long and complicated process. Because symptoms often overlap with more common conditions, people may go through multiple doctor visits, tests, and treatments before receiving clarity.
Most people in South African with rare genetic disorders—there are more than 7,000 conditions, with about three-quarters affecting children—go undiagnosed.
“There are 300 million people worldwide with rare diseases—three times the number affected by cancer, HIV, and tuberculosis (TB) combined,” says Dr Marianne Gush of the Undiagnosed Disease Programme at Stellenbosch University. This genetic research programme is working to bridge critical gaps in rare disease diagnostics, and is the first of its kind in sub-Saharan Africa. “Individually, these conditions seem invisible, but collectively they are quite significant.”
Most people in South Africa with rare genetic disorders—there are more than 7,000 conditions, with about three-quarters affecting children—go undiagnosed because they do not have access to advanced genetic testing like next-generation sequencing, which provides a comprehensive view of human genes and helps to dramatically reduce diagnostic time. As a result, many of these conditions remain poorly studied and are rarely included in global medical research.
According to findings from the Undiagnosed Disease Programme, next-generation sequencing has helped diagnose up to 58% of rare disease cases in other countries. This is why researchers at the Division of Molecular Biology and Human Genetics at Stellenbosch University, led by Professor Shahida Moosa, are working towards expanding access to genetic testing in South Africa to help more people get the answers and care they need.
Parents advocating for children’s care
South Africa’s healthcare system remains deeply affected by apartheid-era policies, which created separate health departments across different regions. This has led to a system that is uneven, poorly coordinated, and struggling to provide equal care for the entire population. Additionally, there are not enough doctors and healthcare professionals at large to meet the country’s needs, with less than one doctor for every 1,000 people.
In this context, “the medical gaslighting was tough,” says Kelly du Plessis, CEO of Rare Diseases South Africa, a platform that advocates for and supports families affected by rare diseases in navigating the healthcare system and finding community. In 2010, du Plessis’ son was diagnosed with Pompe disease—a rare genetic disorder that causes progressive weakness to the heart and skeletal muscles—when he was 11 months old. “We were told treatment wasn’t available and that no one would pay for it. I refused to accept that,” du Plessis explains.
“It’s not only isolation from a disease perspective, it’s also the feeling of being in it on your own.”
She quickly understood that she had to advocate for her son’s health and jump through legal hurdles by herself. Du Plessis ultimately managed to obtain a license for unregistered use of a newly FDA-approved enzyme replacement therapy drug that was not otherwise available in South Africa. She was able to get her medical scheme to pay for the treatment by filing a court appeal. Her son has been on the treatment ever since.
“It’s not only isolation from a disease perspective, it’s also the feeling of being in it on your own,” du Plessis says, explaining that Rare Diseases South Africa provides support to people with rare diseases so they feel less like “they’re in this dark space and there’s absolutely no one to help”.
Rare Diseases South Africa reports having positively impacted the lives of more than 1,800 people. Among them is Zach de Wet, who was diagnosed with mucopolysaccharidosis type II (MPS II), a genetic disorder that affects the body’s ability to break down certain sugars, leading to progressive damage to organs and tissues.
Pompe disease is a rare genetic disorder that causes progressive weakness to the heart and skeletal muscles. Photo: Rhoda Baer, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health
Since his diagnosis in March 2021 when he was two years old, Zach and his family have faced an uphill battle to access the treatment he needs. The de Wets have struggled to get their medical aid (a form of insurance) to approve life-saving therapies, navigating a complex and often frustrating legal system that does not always hold health insurers accountable for rare disease care.
As Zach’s father, Jacques, points out, knowing that his son has a chronic debilitating disease makes it impossible for his wife and him to be passive. “We were lucky that Rare Diseases South Africa advocated for us to obtain a grant to support Zach’s treatment while we figured out our legal fight with medical aid. But this is just a temporary grant. We can’t be sure that it won’t stop overnight. We can’t afford that, so we have to press on,” he says.
Bridging the socioeconomic divide
Jacques de Wet admits that despite their challenging ongoing journey, he and his wife have been fortunate in being able to cover the roughly R12,000 (US$654) a month of additional medical expenses with their combined income. Their professional background has also enabled them to tackle the legal battles head on and proactively push through each step of the process.
This is not possible for many people in South Africa, especially those from underprivileged backgrounds. Limited awareness of rare diseases, fewer specialists in rural and low-income areas, and barriers like the high cost of treatments and transportation challenges make it harder for people to reach the right medical professionals.
Nomsa Mtshali, a patient coordinator and case manager at Rare Diseases South Africa, says these stark inequalities are particularly prominent across the country’s urban-rural divide. “Access to a health centre can be challenging and take up to one or two days in certain [rural] provinces,” she says.
“Part of our mission is to reach out to these communities who have less access to us online. We [use] community outreach by partnering up with local clinics and even traditional healers whom [communities] have put their trust in.”
“Different diseases manifest differently in different racial groups. Because we lack the data, namely in the Black population, many conditions remain undiagnosed.”
That only 20% of the Black community has awareness of rare diseases is a significant source of another key barrier: stigma. “This knowledge gap is responsible for a lot of stigma,” Mtshali explains.
Stigma also comes from rare diseases research itself, or lack thereof. Limited genetic research of and among African populations makes diagnosis even more challenging. “Different diseases manifest differently in different racial groups,” Gush explains. “Because we lack the data, namely in the Black population, many conditions remain undiagnosed.”
Indeed, scientific research shows Mabry syndrome, or hyperphosphatasia-intellectual disability syndrome, which is characterised by intellectual disability, distinctive facial features, and increased levels of an enzyme called alkaline phosphatase in the blood, has been found at higher rates among the Xhosa community in South Africa.
The Undiagnosed Disease Programme team has recently begun a project to ensure that AI-powered tools—such as GestaltMatcher, which helps doctors diagnose rare genetic diseases by analysing a person’s facial features—are better equipped to recognise diverse racial and ethnic phenotypes.
GestaltMatcher is an open-source project that is continuously updating. It is more widely used in high-income countries and by largely white populations, and therefore has limitations when it comes to understanding African faces. “We are not using it for diagnosis. But we are actively training the system by feeding it photos and corresponding diagnoses, helping it become more racially inclusive and accurate,” Gush says.
Reducing persistent inequalities
There is still much to be done to reduce persistent inequalities and make rare diseases a public health priority in South Africa.
Through awareness initiatives like #28DaysOfRare, Rare Diseases South Africa is not only educating the public but also pushing for policy reforms that ensure better access to care. Yet there are limitations to the organisation’s reach. “We exist to make sure patients are empowered. If we suddenly find 5,000 new patients in a month, we lack the resources to support them,” du Plessis explains.
In the meantime, parents are forced to make impossible decisions, relying on instinct to determine when a hospital visit is truly life-or-death. Wentzel says that only about a quarter of the trips she makes to the hospital for Safaa end up being emergencies—but there is no way of identifying an emergency situation at the time. “This is no way to live,” she says.
The weight of these struggles underscores an urgent need for healthcare professionals to be better equipped—not just to diagnose and treat, but to truly understand the realities rare disease families face. Furthermore, the public health sector must become involved and fully participate in the battle.
“Our research and work is geared towards bringing in economists to create schemes that contribute to making the fight against rare diseases more cost effective,” Gush says. “Money talks, and we scientists understand that all too well.”
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