The Plight of Rare Diseases in Southern Africa: Policy Recommendations for Health and Social Services (original) (raw)
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The Plight of Rare Diseases in Southern Africa: Health and Social Services Policy Recommendations
Rare diseases (RDs) affect a small proportion of the population when compared to infectious and non-communicable diseases (NCDs) and thus receive limited attention. However, there are more than 10,000 known RDs affecting about 300 million people worldwide. The majority of rare diseases are hereditary and affect children. RDs are understudied and are difficult to diagnose, manage, and treat. The situation is worse in sub-Saharan Africa (SSA), where the public health infrastructure is weak, leaving a high health and cost burden on patients and caretakers. SSA is yet to adopt a common definition of what constitutes a rare disease as other regions, let alone establish the demographics of the kinds of RDs afflicting the population and the actual burden. Furthermore, policy frameworks and instruments to guide the management of RDs are non-existent. This gap contributes to a slow pace in the realization of universal healthcare and the sustainable development goals in this region. We propos...
Rare diseases in underdeveloped countries of West Africa. Are they really rare?
Academia Letters, 2022
According to the World Health Organization (WHO), rare diseases (RD) are those that occur in fewer than five people per ten thousand inhabitants and there are more than seven thousand diseases. Rare Disease's Day will be commemorated on the last day of February. Its objective is to recognize the existence of these conditions and involve doctors and civil society. [1] Although there is no single definition for the term "Rare Disease", all definitions are based on the frequency with which they occur and also include elements such as the severity of the manifestations and/or the availability of treatment. The definitions used in the medical literature and the different national health programs fluctuate between prevalence's of 1:1,000 to 1:200,000 inhabitants. In the United States, the Rare Diseases Act of 2002 defines a rare disease strictly according to its prevalence and specifically says that it refers to any disease or condition that affects fewer than 200,000 people in the United States, which is equivalent to about of 1:500 people[3-5], in Japan, the legal definition states that a rare disease is one that affects fewer than 50,000 patients, which is equivalent to 1:2,500 people.[2] The European Union defines rare diseases (RDs) as life-threatening or chronically debilitating conditions whose prevalence is less than 5 per 10,000. Moreover, for many RDs, including those of genetic origin, combined efforts are required to reduce morbidity or perinatal and early mortality, and address the considerable decline in an individual's quality of life and socioeconomic potential. [6-10] Excluded from this definition are diseases that are statistically rare, but that are not life-threatening or chronically debilitating. Nevertheless, definition of RD demands the existence of a reliable statistical system that reflects the true impact of the disease on society. But at least in this West African country (Gambia) the study of rare diseases is a challenge for health services, and I will present personal considerations. Some of the countries of the region lacks reliable statistics and those that do exist do
Orphanet Journal of Rare Diseases
A rare disease is generally defined as a condition which affects about 1 among 2000 people and currently, there are approximately 5000–8000 rare diseases (RDs) affecting over 400 million people world-wide. Although RDs may arise from different causes such as infections and environmental factors, about 80% are caused by genetic abnormalities. In Tanzania, there are no reports of the types of RDs, their incidence, distribution and numbers of individuals affected. In addition, there have been no strategies to map RDs in the country and develop a definition that fits the local context. Public awareness and understanding of RDs are very limited, and these lead to poor management and stigmatisation of patients. To address the ongoing problems, Tanzania joined other countries world-wide and global partners to commemorate the rare diseases day (RDD) for the first time in 2016 and subsequently every year. Unlike previous years where the RDD was organised by Ali Kimara Rare Diseases Foundatio...
2020
Current estimates show that there are approximately 6000-8000 rare Diseases (RDs) which affect over 300 million people worldwide. Individually, each RD affects <200,000 people mainly children because of limited survival, leaving a lifetime/life changing impact on affected individuals. Most RDs have a genetic origin, however the underlying causes and mechanisms of most RDs are still largely unknown. In Tanzania, there is limited data on incidence, distribution and types of RDs. In addition, there is little awareness and understanding of RDs by the public, which has resulted in poor management and stigmatization of individuals with RDs. To address this problem, a RD day is commemorated globally every February with the aim of raising awareness among the general public and decision makers about RDs and their impacts on individuals' lives. In addition, this platform is normally used to put emphasis on improvement and access to healthcare for affected individuals. From 2008 to 2020, the RD Day has been commemorated in more than 100 countries, initially in Europe and Canada. In Tanzania, the RD Day was first commemorated in 2016, and the most recent event was held on 29 th February 2020. The later was co-hosted by the Ali Kimara Rare Diseases Foundation (AKRDF) and Tanzania Society of Human Genetics (TSHG). The event was graced by the Hon. Dr. Hamisi Kigwangalla Minister of tourism and natural resources who represented the Vice President of the United Republic of Tanzania as the Guest of Honour. Also, in attendance were varioushigh-level Government officials, representatives of cooperates, academia, civil society, and individuals with RDs and their families. The organizers and other stakeholders utilized the event to advocate for policies and interventions to address the challenges facing individuals and children with RDs. This paper documents the highlights and presents the proposed call for actions of the 2020 RD day in Tanzania, with the overall goal of improved lives of patients and their families through increased access to adequate and high-quality health services and the development of appropriate policies.
Critical Public Health, 2017
A resilient and responsive health system providing universal health coverage is one that is able to cope with both the commonplace conditions faced by the majority as well as rare conditions, particularly when experienced by more marginalised groups. This is critical to ensure that under the sustainable Development Goals agenda, no one is left behind. Low-and middle-income economies are in the process of refining their health systems to respond to the epidemiological and demographic transition. However, with economic development comes the requirement for an ethical transition; the need to justify, with some transparency, the allocation of resources for the less common, but often more expensive conditions. Drawing on a case study of a rare genetic condition, this paper highlights the various pathways in the system that support or hinder access to care, to identify the policy directions for rare diseases in resource constrained settings.
The need for worldwide policy and action plans for rare diseases
Acta Paediatrica, 2012
There are more than 6000 rare diseases (defined as affecting <5 ⁄ 10 000 individuals in Europe, <200 000 people in the United States). The rarity can create problems including: difficulties in obtaining timely, accurate diagnoses; lack of experienced healthcare providers; useful, reliable and timely information may be hard to find; research activities are less common; developing new medicines may not be economically feasible; treatments are sometimes very expensive; and in developing countries, the problems are compounded by other resource limitations. Emphasis is required to support appropriate research and development leading to better prevention, diagnosis and treatments of rare diseases. Notably, clinical trials using already existing drugs may result in new, affordable, treatment strategies. Moreover, rare diseases may teach us about common disorders.
Orphanet Journal of Rare Diseases
The rich and diverse genomics of African populations is significantly underrepresented in reference and in disease-associated databases. This renders interpreting the Next Generation Sequencing (NGS) data and reaching a diagnostic more difficult in Africa and for the African diaspora. It increases chances for false positives with variants being misclassified as pathogenic due to their novelty or rarity. We can increase African genomic data by (1) making consent for sharing aggregate frequency data an essential component of research toolkit; (2) encouraging investigators with African data to share available data through public resources such as gnomAD, AVGD, ClinVar, DECIPHER and to use MatchMaker Exchange; (3) educating African research participants on the meaning and value of sharing aggregate frequency data; and (4) increasing funding to scale-up the production of African genomic data that will be more representative of the geographical and ethno-linguistic variation on the contin...
Annals of Medicine & Surgery
the morbidity and mortality rate from Non-Communicable Diseases is increasing more than in any place in the world. However, Sub-Saharan Africa faces many challenges such as problems with financing, health system issues, contending interests from industry actors as well as low NCD awareness levels, which have impeded all efforts to curb the burden of these diseases. This perspective discussed the causes, effects and the need to the prioritize prevention and control of non-communicable diseases in Africa, together with practical recommendations. Some of the causes include fast urbanization, dietary changes, lack of health insurance and political instability amongst others, these have had huge implications on not only health indices but also socioeconomic development in African countries. There is a need for political will and engagement, community engagement, behavioral changes, and interdisciplinary coordination to reduce the prevalence of NCDs in Africa.