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SA desperately needs a rare diseases policy framework more than mere legal actions


Andrew Miller is National Treasurer of the Muscular Dystrophy Foundation of South Africa.

South Africans suffering from rare diseases are on their own. In a policy limbo, it is left to individual patients to take their fight for care to their medical aid fund, if they have one, and often to the courts. Thousands of people are routinely denied even basic care. It is time government, pharmaceutical and medical aid partners in the Rare Diseases Access Initiative showed some commitment to their role.

Historically, healthcare has been divided into two pillars, emergency care and chronic care. But now genetic medicine has arrived, with new treatments for previously untreatable rare diseases. As exciting as these treatments are for patients, their cost is a problem.

To address the cost challenge, South Africa urgently needs to develop a rare diseases policy framework that defines what a rare disease is, what medical care rare diseases require and how this should be paid for (at private and public healthcare levels).

Until then, rare disease patients will be forced to fight for access to treatment on a case-by-case basis. This generally starts with protracted battles with medical aids and easily ends up in court. Public health system patients, it should come as no surprise, currently have no viable path to treatment at all.   

Our media offers glimpses of this process playing out with occasional coverage of different court cases. But while every victory won in South Africa’s fight for access to genetic treatments matters — not only for the litigants but for everyone living with similar conditions — legal action is unlikely to shift the national needle. 

A thorny paradox

One recent example is the court action being launched by Cheri Nel and Section 27 challenging the price of a new drug for cystic fibrosis, recently covered by Daily Maverick.

Their action is against Vertex Pharmaceuticals Inc, an American pharmaceutical company that patented Trikafta, a cystic fibrosis treatment priced at around R5,722,400 per patient per year. If the application is successful a compulsory licence would be granted by the courts, and a generics manufacturer for Trifakta would be permitted to enter the South African market, hopefully at a more realistic price for the local economy.

While legal precedent may well be set by the Cheri Nel case, the problem with precedent is it has to be applied. This is immensely difficult with rare diseases, because there are so many different conditions, and each one only affects a tiny segment of the population.

It’s a thorny paradox because rare diseases actually aren’t that rare — as a group. One in 15 South Africans will likely be affected by a rare disease in their lifetime. The idea that our country will need to go through 7,000 different legal processes to apply the precedents that could be set by cases like Cheri Nel’s is preposterous. But it’s our current reality.

Our challenge is systemic

The historical lack of clinical options for rare diseases meant that most were brushed over when the country’s Prescribed Minimum Benefit (PMB) legislation was put in place. This means that today, even those medical aid scheme members living with rare disease conditions that are on the PMB list are frequently denied the most basic levels of care. And in the public health system, many rare diseases go undiagnosed, let alone treated.

Take muscular dystrophy, an umbrella term describing a set of related muscle wasting conditions. Muscular Dystrophy is on the PMB list, code 513A. According to South African law, private and public health funders must therefore cover the cost of treating muscular dystrophy conditions.

The problem comes with the next column in the notorious Annexure A, describing the required treatment. For code 513A it says: ‘Initial diagnosis; initiation of medical management; therapy for acute complications and exacerbations’. This is interpretative phrasing, written for a different, largely hopeless clinical context. Many of our medical aids choose to ignore the spirit of the PMB legislation and focus on the vague phrasing to reject claims. At the Muscular Dystrophy Foundation of South Africa (MDFSA) we regularly encounter patients who have medical aid claims for basic care (such as ongoing physiotherapy, or mobility aids) rejected.

Thus, despite the clarity of our Constitution, South Africans who experience certain types of illness, such as cancer, receive care and treatment across public and private healthcare systems. But those who experience other kinds of illness, such as muscular dystrophy, are often simply ghosted. 

The Department of Health is supposed to review PMB provisions, as per the explanatory note to Annexure A, but it fails to do so. No one has much idea when the next review will next take place. When it does, an organisation like the MDFSA will need to present a compelling clinical case as to the required best-practice care, from physiotherapy to genetic drugs. If the MDFSA doesn’t manage to shove its foot through the bureaucratic door at this time, it is questionable whether the PMB codes for muscular dystrophy will ever be successfully rewritten.

Now imagine the scenario for conditions that aren’t on the PMB list. And remember, there are over 7,000 of them.

The risk is systemic, too

The high prices charged by pharmaceutical companies for new-generation genetic treatments are based not only on the R&D required to develop a treatment but also on the current cost of care to funders. In Western countries with strong budgets and functional health systems, someone living with a muscle-wasting condition receives extensive symptomatic care, and there is therefore financial logic to paying for expensive treatments with the ability to halt the condition’s progression and reduce that cost of care.

But in South Africa, the cost to funders of such patients is often negligible. It’s easy to see why a local medical aid would baulk at having to shell out millions per year to treat patients who currently cost them very little.

If the status quo holds, South Africa could easily be caught between its constitutional principles and gritty reality, as is happening in other countries.

In 2022 the New York Times reported on the situation in Brazil, where a parent about to have a child with the same condition I have — spinal muscular atrophy (SMA) — won a court case forcing the national health system to pay for Zolgensma, provided by pharma giant Novartis at a list price of $2.1-million for a single injection. After about 100 similarly successful lawsuits, the Brazilian government announced it would pay for the drug for infants with severe forms of SMA, at a reduced cost of $1-million per dose. But even this discounted rate now places a possibly unbearable strain on an already fragile health system.

Good news, and bad news

The good news is that a body called the Rare Diseases Access Initiative (RDAI) has existed for several years. Led by the NGO, Rare Diseases SA, it includes pharmaceutical companies, medical aid schemes, the national health department, and other role players. Rare Diseases SA has even drafted an outline of the required policy framework, which is currently in circulation at this body.

The bad news, however, is exactly the same. As much good work as has been done, the RDAI has no legal force. It has no deadlines. It has no website. Few people seem to have any sense of when it may or may not reach a point of getting the required legislation drafted, let alone to parliament. Rare Diseases SA cracks the whip as best it can, but it is a small NGO, with a small whip.

Across the world, rare disease patient advocacy groups — the people with the raw desperation for treatment — have forced funders and pharmaceutical companies and governments to hammer out agreements. But in South Africa, our poor diagnostic capacity means rare disease patient groups are very small. The few NGOs that exist face an ongoing crisis to secure enough funding just to provide physical care and support for their members.

Participating in advocacy and legislative development is a skilled process that requires specific expertise, and therefore budget. And yet our NGOs receive almost no general funding from medical industry role players to facilitate their supposedly crucial advocacy role.

At best this is thoughtless. At worst it is cynical. Novartis achieved a $36-billion profit in the 2022 financial year. Discovery Health achieved R5.5-billion profit in the same period. If patient advocacy groups are so important to their thriving businesses and the communities they say they serve, such companies should be providing at least some general funding to these groups to allow them to play their role effectively. But they don’t.

South Africa also urgently requires improved levels of accountability. Vague assurances that everyone is doing their best, via the RDAI, are undercut by the fact South Africa is making no clear progress in finalising the required policy framework. No pressure is being applied by the public, partially because very few people are aware of the issue (until such time they or a loved one is struck by a rare disease), but also because if you never say when you will complete a project or what you believe its outcomes will be, you are unlikely to experience any meaningful pressure to hit your targets.

Only when the key RDAI role players publicly state their intentions, desired outcomes and intended time frames will that precious nugget we call ‘political will’ come anything close to reality.

Until then we will carry on in the same state. Those who are able will head to court to sue for access to treatment. Our NGOs will fight the best fight they can. And the rest will be left to nurse themselves into their own coffins, at vast personal expense. DM


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