Kelly du Plessis is CEO & Founder of Rare Diseases South Africa, a registered NPO born out of necessity when her oldest child was diagnosed with Pompe disease at 11 months old. Here she provides insights on where South Africa is at in terms of rare diseases and what needs to be done to improve the lives of the 3.7 million people living with a rare disease in the country.
If we are to truly bridge the gap and offer inclusive healthcare services locally, we need to work towards a healthcare model that emphasises self-sufficiency, timeous diagnosis as well as treatment of rare and chronic diseases.
Rare diseases are an area of healthcare which has been neglected in the past, predominantly due to the high cost of drug research and the limited patient pool available to get drugs to market. However, if we consider that there are over 6000 rare diseases that affect over 300 million people worldwide, with approximately 3.7 million living with a rare disease in South Africa alone – it is evident that this needs to change, and quickly, if we are to ever bridge the gap for inclusive healthcare.
While researchers have made progress in learning how to diagnose, treat and even prevent a variety of rare diseases, there is still much to do as most rare diseases have no treatments. In fact, approximately 50% of rare diseases do not have a disease-specific foundation supporting or researching their rare disease.
Of course, there have been efforts to improve and bring to market treatments for rare diseases, coordinated by the US Food and Drug Administration (FDA) where the Office of Orphan Products Development (OOPD) provides incentives for drug companies to develop treatments for rare diseases. However, between 1973 and 1983 fewer than 10 treatments for rare diseases were approved. Since 1983, the OOPD programme has helped develop and bring to market more than 400 drugs and biologic products for rare diseases, yet it is estimated that 95% of rare diseases have not one single (FDA) approved drug treatment.
These treatments, however, are not curative but can slow down the progression of the disease if administered life-long. Precision medicine aims to focus on the root cause of the genetic problem, creating space for cures and one-off treatments, reducing overall treatment costs and improving the patient’s quality of life. However, treatment costs are often exorbitant and no matter who is paying the individual’s bill, whether it’s an insurance company or patient, it all contributes to the spiralling cost of healthcare.
There is no rare disease registry in South Africa and due to the lack of diagnostic infrastructure, combined with our “rainbow genetics”, we also find that often patients from Africa are misdiagnosed, or their novel mutations are missed when testing for conditions overseas, as the tests are looking for common mutations found in the US/ European population.
What’s more, the competitive nature of the pharma industry makes the development of day-to-day drugs and treatments for common conditions more accessible and easier to replicate. Rare diseases, on the other hand, are a relatively untapped market, and their margin for growth in terms of drug development is huge. However, the high costs of drug development in this field due to limited patients, and high research development costs, as well as the way in which many of these treatments are administered (many are biologics) results in market accessibility being more difficult than with mainstream medication.
If we consider that South Africa’s public healthcare sector is ill-equipped to provide medical services to all 56 million South Africans, even if it is successful in securing partnerships with certain private players, current policies prevent rare and chronically ill patients from seeking private insurance as reimbursement avenues for private practitioners and other service providers are constrained. There are also other exacerbating factors including – many genetic tests are not available locally, there is no rare disease registry in South Africa and due to the lack of diagnostic infrastructure, combined with our “rainbow genetics”, we also find that often patients from Africa are misdiagnosed, or their novel mutations are missed when testing for conditions overseas, as the tests are looking for common mutations found in the US/ European population. This, coupled with patients lacking an understanding on their rights, the lack in access to information and where supportive care is often the only possible intervention it is often not recognised as a medical need, results in poor lead times from diagnosis to treatment, inaccurate diagnosis and unregistered treatments.
The reality is that in order to improve access, drug registration processes need to be streamlined and turnaround times shortened. The South African Health Products Regulatory Authority (SAHPRA), previously known as the Medicine Control’s Council (MCC), has had some files awaiting registration for in excess of 6 years. This is disastrous for the patient as private funding is prohibited for unregistered medicines and is only accessible via exceptional circumstances.
Furthermore, if we are to truly bridge the gap and offer inclusive healthcare services locally, we need to work towards a healthcare model that emphasises self-sufficiency, timeous diagnosis as well as treatment of rare and chronic diseases. What’s more, there needs to be better coordination of all aspects of care for people living with a rare disease as well as those who are chronically ill. By living beyond advocating for our human rights to access healthcare, we need to look further than those that are recognised by National Health Insurance as well as medical aid schemes to those truly vulnerable communities. This will require the passage of new legislation and substantial changes to existing legislation – where a holistic and inclusive approach is needed to restore trust and confidence in health services across the public and private sectors.
Universal and inclusive healthcare is potentially transformative yet intensively political. It must be mutually independent and mutually reinforcing providing solidarity and giving priority to low-income and disadvantaged individuals – including those with a rare disease.