Tag a Rare Disease Life

Problem/ Challenge  

The lack of information about rare diseases impacts ability to procure medications and properly stock needed medications. It also prevents the opportunity for clinical trials and access to novel treatments. There is also an opportunity to reduce the strain on the healthcare ecosystem and provide significant cost savings through better compliance and patient management. 

Lack of evidence-based data on rare diseases- Rare disease patients are scattered, isolated, and discriminated against globally as a result there is insufficient information to support healthcare professionals to deliver adequate healthcare services. Rare disease patients are impacted by limited healthcare services, limited expertise of healthcare professionals, and a lack of visibility. 

Lack of evidence-based data on rare diseases- Rare disease patients are scattered, isolated, and discriminated against globally as a result there is insufficient information to support healthcare professionals to deliver adequate healthcare services. Rare disease patients are impacted by limited healthcare services, limited expertise of healthcare professionals, and a lack of visibility.   

Rare diseases are not adequately prioritized in low and middle-income countries, particularly in Africa, In Zimbabwe, rare diseases are not well recognized. This further exacerbates the challenges already facing people living with rare diseases, clinicians, and researchers, including delayed diagnosis, misdiagnosis and non-diagnosis, inaccessible care, physical, emotional, and financial burdens placed on the patients and their families, and lack of clinicians with expertise equipped with clinical guidelines and other knowledge.  In most African countries, Zimbabwe, in particular, rare diseases research is challenging due to a combination of low prevalence, and inadequate diagnostic capability.

 The number of rare disease patients is unknown as there is no policy framework that supports the collection, implementation, and evaluation of rare disease indicators. Rare diseases are characterized by a wide diversity of symptoms and signs that vary not only from disease to disease but also from patient-to-patient suffering from the same disease. Due to the lack of definition and low prevalence of each rare disease, knowledge is scarce, care offerings are inadequate and research is limited.  Despite their great overall number, rare disease patients are the orphans of health systems, often denied diagnosis, treatment, and the benefits of research. Typically disabling, the quality of life of a person living with a rare disease is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease. The fact that there are often no existing effective cures adds to the high level of pain and suffering endured by patients and their families. Rare diseases not only affect the person diagnosed - but they also impact families, friends, caretakers, and society as a whole.  

Solution  

 The implementation of an interactive rare disease platform that captures an interactive rare disease application that captures and records patient information to generate evidence-based data that would be used to educate, raise awareness to reduce discrimination and isolation of rare disease patients, and capacitate healthcare professionals to provide improved treatment and care using the PocketPatientMD medical platform, which is live and active, and can be used without connectivity.

Keywords: affordable, accessible, interactive, informative, user-friendly, local languages, used globally, referral support, a network of volunteers  ,rare diseases ,community champions, health care professionals.

Using the PocketPatientMD platform, we have the capacity to expand our reach and work with other local and global partners, including in areas that lack good connectivity.The target population includes people impacted by rare diseases such as patients, families, caregivers, healthcare professionals, healthcare service providers, researchers, policymakers, and the community at large. 

They are currently underserved as they are unidentified, neglected, and unsupported by the healthcare system. The solution will identify previously neglected patients, capacitate the healthcare professionals and create collaboration and networking among different stakeholders. Due to the complexity of their conditions, our solution will create a platform where experts can be more accessible.  

We are the only patient organization in Zimbabwe that represents the interests of rare disease patients in Zimbabwe. We work closely with families by providing humanitarian support, advocating for improved health services, and facilitating the development of support groups.

Working with PocketPatientMD, we are already able to gather data as we develop and expand our solution. PocketPatientMD is an interoperable, customizable, and multi-lingual platform, enabling us to work with other interested partners across Zimbabwe and the continent, make changes, and have the capacity to scale quickly. PocketPatientMD’s offline capabilities allow us to also work in rural areas and areas with poor connectivity. As we develop the solution, the rare disease community will participate in generating new knowledge on rare diseases in Zimbabwe and will encourage other people impacted by rare diseases. The model will be developed using their input. They have already influenced documented information from their lived experiences. The design and implementation of the solution will move them a step further towards early diagnosis, affordable treatment, and quality care.  

As an organization, we have started work on the rare disease virtual platform despite limited resources due to economic instability and lack of information. Working with PocketPatientMD we can overcome technical limitations and begin our work, but still lack resources and capital to scale and improve accessibility, affordability, and user-friendly resources. 

Child And Youth Care Zimbabwe will create automated chatbots to facilitate dissemination of information to patients and communities; provide real time response to patient’s requests and needs and link and manage the data sharing between service providers and patients.  Apart from computation of real time analysis and visualization of the data, the platform lets you easily get that data into Excel for further analysis and integrations in other existing databases or data management tools. Targeted campaigns will be run to raise awareness on the rare diseases. The platform will also launch a snowballing recruitment function so that other people can join from where ever they are as long as they get the hot keys or introduced by someone. This platform can also be used to access local and international health care expertise and information. Working with PocketPatientMD, the platform can be used in rural areas and areas with poor connectivity. We have the ability to easily scale and enter new markets, and provide our solution in multiple languages as needed. 

Participation and inclusion of persons living with a rare disease & their family in society and respect of their human rights 

To address root causes of discrimination against CLWRD, including through dissemination of accurate information and awareness-raising activities, such as proclaiming the last day of February as the annual global Rare Disease Day; 

To collect, compile and disseminate disaggregated data on CLWRD to identify patterns of discrimination and to assess progress towards improving their status. 

  Improvement of health and social outcomes with the appropriate care and support within existing resources 

Strengthen efforts to address the challenges of CLWRD within Universal Health Coverage by implementing interventions, facilitating multidisciplinary care, and promoting equity of outcomes; 

Support the networking of experts and centres of care globally - to strengthen healthcare systems and facilitate access to diagnosis and holistic care, including social care for CLWRD; 

Strengthen international collaboration and coordination of research efforts, as well as sharing of data on rare diseases. 

As an organisation we acknowledge some of the initiatives, policies and declarations that are there to addressing some of the challenges being faced by people living with rare diseases. However, we note with concern that they are not fully addressing all the challenges. 

SDG1 Poverty- Vulnerability: Resolution on the health of the most vulnerable for an inclusive society.

SDG3 Health- Inclusiveness: UN Political Declaration on Universal Health Coverage + Resolution on inclusive approach to strengthening healthcare systems + Global Solidarity to fight COVID-19 + Global Action Plan for Healthy Lives and Well-being for All. 

SDG4 Education: Childhood: Convention on the Rights of the Child 

SDG5 Gender & SDG10 Reduced inequalities: Discrimination: Convention on the elimination of All Forms of Discrimination + all aspects of stigma and marginalisation + discrimination in education, lifelong learning, employment, leisure and social policies + gender issues 

SDG8 Decent work for all- Human Rights: Universal Declaration of Human Rights + Report by the UN High Commissioner for Human Rights + Human Rights Council on access to medicines and vaccines 

SDG9 Innovation- foster international cooperation and improve coordination among existing international processes and instruments to advance an inclusive Global Agenda 2030 and facilitate cross-learning and sharing of information, practices, tools, and resources that are inclusive and accessible to PLWRD. 

Ultimately, CYC seeks to support the government in developing rare disease friendly policies and to ensure that medical support is extended to rare disease patients as well as provide humanitarian support to the patients and their families. Our theory of change is anchored on improving the quality of life of people living with RDZ. Our long term vision is to develop a detailed database that can be used nationally and regionally but most importantly to realise improved living conditions.

To achieve this, Child And Youth Care Zimbabwe will develop automated chatbots for messaging and voice bots to engage anyone, anywhere. It will empower us with the ability to build some interactive SMS applications, launch them to not only patients/community members, but also to various project activities that need performance appraisals and administrative checks.  All these interactions will get real time analysis and expedite the decision-making processes. The proposed system is built with automated SMS conversation workflows to create chatbots that work on any phone thereby allowing access to wider range of stakeholders.  Every interaction with a flow creates a data point that is automatically associated with each user. 

Rare diseases impact people of different races, classes, religions, and ages across the country. Our work covers all families living with a rare disease with a top-down and down-top approach. The SMS toll-free is accessible to all in different local languages. 

Our plan to become financially sustainable will incorporate a physical resource center through membership fees. We intend to facilitate disease-specific support groups that are patient lead and financially independent. We will capacitate the groups to fund raise and do self- sustaining projects. We will continue to call for sustained donations and grants. We plan to collaborate with medical health students, and other healthcare professionals to create interest in our work and generate revenue on our behalf. 

We have been receiving grants from Eurordis (Financial), Illumina UK (Financial), CLAN Australia (Financial), NORD (Technical), RDI (Technical), and IGA ( Technical).