Activities of Rare Disease Ghana Initiative are targeted efforts to promote awareness of rare diseases; develop, seek wide endorsement and advocate for the implementation of a plan to support education, research, service development and increase support for affected individuals and their families.
Education & Training Program
There is a general lack of awareness of rare diseases among health professionals, researchers, policy makers, service providers, families and the general public. Rare Disease Ghana Initiative presents as the centralized organization for rare diseases with coordinated effort to provide information or educational opportunities to multiple stakeholders in Ghana. We provide resources to improve knowledge and awareness of rare diseases and related issues.
Diagnostic delays for rare diseases are common due to under-recognition by health professionals and limited access to diagnostic services. Although many rare diseases are incurable, parents value a definitive diagnosis because this allows them to understand what is wrong with their child, to plan for ongoing care, and for future pregnancies. Having a diagnosis alleviates some of the stress and powerlessness associated with not knowing. Although diagnostic tests for many rare diseases are becoming increasingly available, access to these is difficult due to lack of availability and prohibitive costs. Genetic counselling and screening services are also important for prevention of rare diseases. However, information about such services and ways of accessing them is not readily available in Ghana.
The goal of the diagnostic program is to provide tools and resources to enhance early diagnosis of rare diseases in Ghana.
As the number of persons suffering from individual rare diseases is small, they do not constitute a significant market for drug manufacturers to develop and bring to market drugs for them. In such cases, some governments around the world provide incentives to encourage the manufacturing of orphan products to assist rare disease patients. However, Ghana does not have an Orphan Drug Program which seeks to fast track the development and approval of orphan drugs for release to the Ghanaian market.
In addition, most rare diseases leads to both functional and structural disabilities. Hence, the management may include the use of medical devices and other biomedical technologies. Also, the management of rare diseases may include surgery or rehabilitation. In most cases, these therapies are not readily available to patients or expensive if any available. The goal of this program is to provide tools and resources to enhance the treatment and management of rare diseases in Ghana
Care Coordination and Empowerment Program
Majority of care is usually coordinated by people living with a rare disease and their family members who spend a significant amount of time organizing care. For most people living with a rare disease, as well as their family members or carers, the reality of daily life can include any combination of the following: collecting and taking medicines, attending appointments, participating in physical therapy, using specialist equipment and accessing various social and community support services and respite care. Managing these care-related tasks alongside their usual daily activities such as work, school and leisure time can be challenging. Organizing care can involve researching local services, making phone calls, accessing treatments and rehabilitation, handling administrative procedures and adapting the home or work space. It becomes a complex and frustrating process, especially when a lack of coordination across services means having to repeat the same information over and over again. Communication between different services needs to improve so that services are delivered efficiently to meet patients’ best interests.
The Care Coordination and Support program provides additional support to rare diseases patients and their families while they navigate through Ghana’s complex pluralistic health system. The program also seeks to provide resources to empower patients and their caregivers while receiving care.
Data and Registry Program
Data on how many people suffer from different rare diseases in Ghana is lacking. The information available so far have been reports of cases diagnosed at some tertiary hospitals and some hospital based data. The lack of epidemiological data on incidence and prevalence of rare diseases impedes understanding of the extent of the burden of rare diseases and development of a definition. It also hampers efforts to arrive at correct estimation of the number of persons suffering from these diseases and describe their associated morbidity and mortality. In such a scenario, the economic burden of most rare diseases is unknown and cannot be adequately estimated from the existing data sets. Although extremely challenging, considering the complexity of various diseases and the difficulty in diagnosis, there is a clear need to undertake systematic epidemiological studies to ascertain the number of people suffering from rare diseases in Ghana. In this respect rare disease registries (RDRs) can be an instrumental source of information.
A medical patient/disease registry is a structured system for collection, storage, retrieval, analysis, and dissemination of information related to patients with a specific health condition and are relevant is patient care and health assessment. It is a very imperative resource for a structured framework of improvement in monitoring prevalence and disease outcomes, knowledge and public awareness, research and policy making.