I recently read a review article on cystic fibrosis which highlighted for me the tremendous advances in the field of medicine since I left active clinical practice as a paediatrician in 1995.
During my training as a paediatrician and subsequently as a senior research fellow I worked for various periods in a clinic at the Red Cross Children’s Hospital that managed children with cystic fibrosis. As a result of this experience when in 1983 I moved to Bloemfontein, I started a similar clinic to manage children with the condition in the Free State province. Over the 12 years that I spent in the Department of Paediatrics and Child Health at the Free State University I shared the experiences of both the children and their parents suffering from this incurable condition.
At that time, the diagnosis was based on measurement of the elevated sodium levels in the sweat of these patients in what is termed a “sweat test”. With the cooperation of colleagues in the Department of Chemical Pathology, I initiated what became routine sweat testing of children with a suspected diagnosis of cystic fibrosis at the Universitas Hospital. The treatment available then was limited to the symptomatic treatment of the consequences of the diseases which, despite our best efforts, inevitably lead to the premature death of many of these patients during childhood or early adolescence.
As a doctor, the long-term nature of the disease lead to the special relationship that one developed with both the child and their parents. I describe my relationship with one such child in my book and the emotional toll this exacted from all who were involved in her treatment and how she bravely faced death in a manner that belied her young age. Her memory still lives with me after almost 40 years.
Cystic fibrosis is what is termed an autosomal recessive genetic disease resulting from a molecular defect (cystic fibrosis transmembrane conductance regulator – CFTR) that disturbs the water-electrolyte balance on the surface of membranes in organs such as the lungs, pancreas, liver and sweat glands. With a greater understanding of the pathophysiology of the disease, apart from the sweat test, it is now possible to undertake screening of newborns utilising a blood spot test (trypsinogen) and confirmatory sweat test and if available genetic testing. It is relatively rare disease which is more prominent in Caucasian populations and where routine screening of all newborns in these communities can be justified by a cost benefit analysis. The disease has been described less often in Black patients but this could be as a result of less testing of these communities.
I do not intend to trouble the reader with a more detailed description of the pathophysiology of the condition but the consequence of the identified CTFR defect is that the sweat sodium is elevated resulting in its use as a diagnostic tool. Further the defect leads to thickened secretions in various organs of the body. In the lungs this results in plugging of the airways, inflammation, recurrent bacterial infections and progressive damage to the lungs. The pancreas is similarly damaged leading to the both malabsorption and diabetes if the individual survives into adulthood.
During my time as a clinician the management of patients with cystic fibrosis was focused on ensuring optimum nutrition with at times pancreatic enzyme replacement, regular lung physiotherapy and the effective treatment of acute lung infections. However over time the disease progressed despite this approach. The use of inhaled mucolytics, not available in my time, has been shown to improve lung function and reduce the number of acute infections. Similarly, lung transplantation for those with end stage lung disease, while possible, was not then readily accessible to paediatric patients.
The identification of the specific genetic defect has been a significant advance and the ability to more effectively treat the consequences of this defect as a result is most impressive. Drugs have been developed that to varying degrees are able to reduce (modulate) the impact of the CTFR defect on various organs in particular reducing the impact of the disease on the lungs. While in the past relatively few patients with cystic fibrosis survived into adulthood, studies from North America and Europe now indicate a median age of survival of over 50 years. The key to these successes, which has seen a growing number of adults surviving even without lung transplantation, are both the advances in the understanding of the disease (the ability to modulate the impact of the CTFR defect) and the management of these patients in specialised multidisciplinary units. This success involving new treatment modalities however comes at a price.
In South Africa, while the disease, as elsewhere, is relatively rare and predominantly identified in a minority population group of this country, the advances in therapy and resultant increasing life expectancy, if appropriately managed, raise difficult ethical and moral dilemmas. When children in poor communities lack basic primary health care, what priority can and should be be given to the costly treatment of a small number of children with a rare condition and a limited prognosis despite the scientific and technical advances? In a country challenged by a failing public health system and an ailing economy, the financial implications of the management of cystic fibrosis and indeed other rare diseases pose a challenge for those tasked with the allocation of health budgets.
As a paediatrician treating the young cystic fibrosis patient over 40 years ago, I would have done my utmost, as if she was my own child, to ensure that she had access to the most effective therapy despite the cost. Treatment that, if available then, could have resulted in her surviving into adulthood. I am sure that my paediatric colleagues in practice today would do the same.
As a public sector bureaucrat in the public sector confronted with a looming budget deficit and multiple demands on the health services, I would have been forced to adopt a utilitarian approach benefiting the majority that in all likelihood may have limited the availability of these therapies to a similar young patient. I am sure that my erstwhile colleagues in management would have had to do the same.
This conundrum emphasises, in addition to the value of scientific progress, the importance of economic development and economic growth and the need to limit the wastage of state resources to grow the resource base available for health care. A resource base that is increasingly challenged by both a burgeoning population demanding quality healthcare and an increasing ability to effectively treat conditions that were previously untreatable but at significant additional cost. Economic growth and development are the key to ensuring that those suffering from rare diseases and all others receive the best treatment possible and that neither a medical practitioner nor a health administrator are faced with making invidious choices.
