Until recently, Neuromuscular Disorders (NMD) were untreatable conditions, with accurate diagnosis required to manage their often devastating impact as effectively as possible. But the new era of genetic medicine has arrived, and more and more of these often fatal muscle wasting illnesses can now be treated.
The problem is that they have to be accurately diagnosed first – which is something South Africa fails at. As a result, tens of thousands of our citizens are being denied their constitutional right to health care.
For example, Muscular Dystrophy (MD), one of the biggest NMD categories, affects 1 in 1 200 people, which means South Africa should have roughly 49 492 registered Muscular Dystrophy patients. And yet, MDFSA, one of the country’s only support bodies for MD conditions, only has 1 228 registered members.
This yawning diagnostic gulf means that the vast majority of affected South Africans face living with a severe, often-fatal muscle wasting condition with little to no support at all. A group of seven academic authors, writing in Frontiers[1], the world’s 6th largest academic publisher describes a barren diagnostic landscape for South African paediatric patients and families.
South African patients with suspected NMDs, in both the private and public sector, experience a diagnostic odyssey. Only a small number of specialised clinics exist as the portal for disease diagnosis and translational medicine. Further barriers to diagnosis and referral are practitioners lacking training in NMDs.
As if a severe lack of national diagnostic capacity wasn’t enough, cost is also a huge barrier to treatment access, with most new genetic treatments for NMDs carrying extreme price tags. For example, Zolgensma, a treatment for Spinal Muscular Atrophy (SMA), has a list price of $2.1 million (+/- R39 million). Similarly, the first FDA treatment for Friedreich’s Ataxia, Skylaris, has an annual cost of $375 000 (+/- R7 million), while the first treatment for Duchenne Muscular Dystrophy, Elevidys, was launched with a list price of $3.2 million (+/- R60 million).
But even if we presume that the South African health care system eventually finds a way to deal with these costs, which is by no means guaranteed, the fact remains that currently only a fortunate minority of NMD patients are currently able to access the appropriate diagnosis and healthcare services that would put them on the path to treatment access, or at the very least proper medical management of their condition.
Until South Africa radically ramps up its attitude and approach to basic NMD diagnosis, our practical position as a society is that we only consider and treat certain types of illnesses and patients. The others, such as NMDs, we simply ignore.
That this flies directly in the face of our constitutional principles is obvious. The big question, however, is what we should do about it.
