The rare disease community in Zimbabwe lacks public support and funding for genomic testing. Raising awareness and establishing a national registry of patients living with rare diseases across Africa would be a step in the right direction.
Kupakwashe and his mum; Kupakwashe was diagnosed with CAH and cerebral palsy. Photo: Trudy Nyakambangwe
My journey into rare diseases began with the tragic loss of my son, who passed away from undiagnosed haemophilia more than two decades ago. I founded Child Youth Care Zimbabwe to support families like mine. Initially focused on bleeding disorders, the organisation expanded to assist those with other rare diseases. We recognise the isolation and high mortality rate that often accompany rare diseases, particularly in Zimbabwe, and we aim to create a safe space for families to share experiences and find comfort and medical solutions. My loss drives me to make a difference and support others who are navigating similar challenges. I now have two young adult children; one of them may be a carrier for haemophilia.
The rarity of rare diseases presents significant challenges, including timely and accurate diagnosis, treatment, and support. Monogenetic diseases take an average of five years to reach a diagnosis; in low- and middle-income countries (LMICs) it usually takes even longer.
The stigma and lack of awareness regarding genetic conditions contribute to discrimination, particularly when the conditions are X-linked; because females have two X chromosomes while males only have one, people assume that X-linked conditions are the fault of the mother. The burden of rare diseases places patients, their caregivers, and their families at a higher risk of mental health issues. Mothers are especially affected as they typically serve as the primary caregivers in many patriarchal communities across Africa. Furthermore, clinicians and researchers share frustration over the absence of expert guidelines within the rare disease sector.
The rare disease community in Zimbabwe also faces significant challenges, including a lack of government support, as shown by the absence of a national strategic plan for rare disorders. Limited access to affordable medication remains a daunting challenge; for instance, people with congenital adrenal hyperplasia in Zimbabwe often struggle to obtain affordable fludrocortisone, a vital lifelong medication. Child Youth Care (CYC) is working to address these disparities by providing humanitarian support to families affected by rare diseases, particularly in assisting with the welfare costs of patients and their siblings. Nevertheless, a more structured method of supporting these families is required.
However, there is a growing recognition of the challenges and neglect faced by patients living with rare diseases; many organisations, including the World Health Organization (WHO), acknowledge the need for support. Nations are adopting the mantra “leave no one behind” and there is a growing call for awareness-raising education and quality-of-life improvements. In line with the UN global universal health coverage for all goal and effort from Rare Disease International, the Member States of the WHO executive board decided to recommend the adoption of the World Health Assembly (WHA) Resolution on Rare Diseases to the 78th World Health Assembly in May 2025.
Locally, the Ministry of Health has a powerful voice that can reach remote areas, educating people and promoting acceptance of rare disease patients. This recognition has also led to the creation of many international organisations and local patient advocacy groups, such as Child and Youth Care and Rare Disorders Zimbabwe, which are often scattered and uncoordinated, as well as government initiatives dedicated to the management of specific rare diseases. By working together, society can help people living with rare diseases live their lives to their full potential.
A key challenge that rare disease patients face in Zimbabwe is the lack of access to universal genomic testing, which is essential for diagnosing and treating rare diseases. Genomics can potentially solve major diagnostic challenges faced by people living with rare diseases. In our organisation’s programming, gene testing has reduced the diagnostic odyssey of people living with Duchenne, trisomy, endocrine disorders, mucopolysaccharidoses, galactosemia, Von Willebrand disease, Lymphedema Distichiasis syndrome, Gaucher, Hirschsprung, hypospadias and Tuberous Sclerosis complex, holoprosencephaly, and Fanconi anaemia, to name a few.
In partnership with private organisations such as Illumina and global philanthropists in Genetic Alliance, our clinicians and patient organisation invest in supporting a network of rare disease healthcare professionals in Zimbabwe to provide psychosocial support services and free genetic tests through collaboration with the University of Zimbabwe Medical School.
High-income countries have made significant progress in genomics. The results inform daily clinical practice. Unfortunately, Africa is lagging behind in the study of genomics, which is one of the reasons it also lags behind in the care of people living with rare diseases. Lack of awareness and structural support, as well as limited resources, also contribute to the problem.
In Africa, I believe it is important to launch a comprehensive registry of undiagnosed patients using the ICD-10 code set by the WHO. According to the ICD-10 code, R69 refers to “illness, unspecified.” As yet there is no single database that records all ICD-10 R69 cases across Africa.
Working with leading medical authorities in various countries, patient organisations can promote the code as a means by which physicians can identify a person in need of a diagnosis. Child codes can provide further specificity and the means to distinguish the duration of one’s diagnostic odyssey. As this becomes normal practice, the effort becomes focused on two main areas: expanding the use of electronic medical practices into more rural settings and using that information to steer conversations regarding access to genomic technologies; and developing a logical approach to allocating these resources to the individuals who need them most.
Our recently set up genetic clinic in Zimbabwe is not led by disease; our approach to genetics is more person-centric, driven by how long an individual has been waiting for their diagnosis. This effort has proved that the success rate of gene testing for undiagnosed families is high, and the next step is to prepare for effective scaling by launching a national registry using the WHO ICD-10 code, R69. This will enable physicians to identify individuals in need of a diagnosis and provide a means to distinguish the duration of one’s diagnostic odyssey.
In Zimbabwe, patient organisations are playing a crucial role in advocating for rare disease patients and forging channels through which sustainable genetic testing can become available to families who have no clear pathway towards a diagnosis. With the necessary funding, this rational approach to healthcare delivery is poised to lead the way in the treatment of rare diseases.
Child Youth Care (CYC) is working to raise awareness and address disparities in rare disease care by providing humanitarian support to families affected by rare diseases. Photo: Rare Revolution Magazine
In Zimbabwe, rare conditions not identified and treated at birth often progress to debilitating conditions for children and adults. We have witnessed children with galactosemia deteriorate and even die where an earlier diagnosis could have saved them or improved their quality of life. Patient advocates are forging the channels through which genetic testing can become available in the country. Although the strategy is, to some extent, built on the same ethical considerations as newborn screening programmes (probability of effective intervention availability), the need for diagnosis in Zimbabwe is immense. These challenges are slowly being overcome as the price of whole genomic testing is reduced and more African organisations dedicated to rare diseases are established with international support.
Furthermore, there is a need to explore funding opportunities for genomics in rare diseases in Africa. Funding is a challenge to genomics globally, and it is more significant in LMICs. Different funding models have been described in high-income countries, including public funding at the national level, public funding approved at the provincial level, and mixed private and public funding; in South Africa, funding is mostly private.
Currently, Zimbabwe’s genetic clinic receives free tests allocated at the discretion of the donor. This is a good opportunity, but not sustainable. A better approach could be adopted in Zimbabwe, where the government, private insurers, and patient organisations work together to provide funding for genomics in rare diseases and improve the lives of rare disease patients and their families. A national registry, funding models, and awareness-raising efforts are essential steps towards addressing the challenges faced by the rare disease community in Zimbabwe.
In conclusion, the funding models used in high-income countries—such as public funding, provincial-level funding, and mixed private and public funding—may not be directly applicable to LMICs in Africa. Therefore, it is essential to explore innovative and context-specific funding opportunities for genomics in rare diseases. This could involve collaborations between governments, private sector organisations, non-profit organisations, and international funding agencies to develop sustainable and equitable funding models that prioritise the needs of patients with rare diseases in Africa. By doing so, we can work towards bridging the funding gap and ensuring that genomics-based diagnostics and treatments are accessible to those who need them most, regardless of their geographical location or economic background.
The opinions expressed are those of the author and do not necessarily reflect the position of Re:solve Global Health.
Trudy Nyakambangwe is a social scientist and rare diseases advocate with over 20 years of experience. She holds a PhD in Child Sensitive Social Policy and specialises in advocating for patients with genetic disorders in Zimbabwe. She develops patient-centred care plans and collaborates with NGOs, pharmaceutical companies, and government agencies to raise awareness of rare diseases and develop community-based support groups.
Comments