Over the last few months, Rare Diseases SA has spent time revising their strategic focus.
Whilst we know that there are many challenges which affect the global rare disease population at large, we also have realized that there are many local challenges which need to be addressed.
In line with our mission of advocating and facilitating engagement between those with the ability to prevent, intervene, treat and provide supportive care for those impacted by rare diseases, the decision was made to invite all stakeholders to a meeting where we could engage on the various issues identified.
Invites were sent to organs of state, funders, fund administrators, healthcare professionals, support groups, industry partners and civil society.
Presentations by Kelly du Plessis (CEO of Rare Diseases SA), Dr Helen Malherbe (Chair of Genetic Alliance SA) and Nicole Capper (A functional pharmacist, Mrs South Africa finalist, and parent to a rare patient) were presented.
Many challenges exist in South Africa in terms of rare disease, but, there are also larger healthcare challenges which need to be taken into consideration when navigating the rare disease patient journey.
These include:
- Limited Financial resources regarding individual patient advocacy
- Culture of apathy amongst South African healthcare consumers
- Cultural, class, literacy diversity of South Africa
- Patients lack of understanding on entitlement to rights
- Accessibility of information
- Escalation processes are cumbersome and ineffective
- Supportive care is often the only possible intervention and is often not recognized as a medical need.
- Treatment decisions are based on cost alone.
Poor lead times from diagnosis to treatment, inaccurate diagnosis, unregistered treatments continue to minimize access for patients.
Key problem challenges in South Africa
Over the last 4 years of operation, and particularly following the successful RareX conference last year, the following were identified as key problem areas which required urgent attention:
- The need for a definitive definition of a “rare disease” within the SA context.
- The need for big data in terms of the threat of rare diseases in South Africa, patient numbers, and treatment outcomes.
- Guidelines and Clinical protocols are required for the effective treatment and management of rare diseases.
- Rare diseases are underdiagnosed and underfunded in South Africa and existing resources are not employed to ensure maximum return on investment, efficiency or efficacy.
- No existing culture of collaboration between stakeholders – focus of support groups is very singular and disease specific.
- A comprehensive legislative and regulatory framework exists however, implementation has been fragmented and unsustained, particularly within the area of Rare Diseases.
The Q & A session provided for some very meaningful engagement.
Key take-home points were raised by members of the audience for discussion and consideration including:
- Newborn Screening and the need for discussion on how this could be carried out in a cost effective and ethical manner.
- Patient Registry: How could a registry be created which allows for raw data to be collected in a responsible manner without placing further strain of an under resourced community.
- Caregiver fatigue: implementing plans, and guidelines to not only recognize caregiver burnout, but to appropriately address the challenges faced in this regard.
- The health market inquiry: civil society engagement is critical to ensuring patient-centricity
- Collaboration: A joint effort between all stakeholders in required to ensure that the objectives are met.
- Medical training: specifically, on congenital disorders is lacking. Capacity building in this regard is urgently required.
- ICD 10/11 code revision: A call for collective comments, and inputs is required to ensure that rare diseases are included in the revised coding.
New strategic objectives
Rare Diseases SA has therefore decided on the following key focus areas for the next 5 years.
Patient navigation: Ensure a challenge-free, supported journey from presentation of symptoms to end-of-life for patients affected by rare diseases.
- Develop clinical guidelines and referral pathways for identified rare diseases in South Africa.
- Provide referral services for both treatment and support to patients with rare diseases.
- Develop patient information/ educational material relating to: diseases, treatment, and supportive services.
- Provide case management services for patients requiring treatment.
- Provide tools and resource material to improve patient journey.
Advocacy and expanding access: Represent patients affected by rare diseases with regards to policy, healthcare costs and delivery.
- Create a united voice in the rare disease community.
- Contribute and participate in policy development and service delivery
- Monitor service delivery relating to rare diseases
- Facilitate development and maintenance of patient registries
- Civil society: incorporate principles included in rare disease patient charter in advocacy efforts
Community Engagement: Collaborate with civil society to ensure greater awareness and networking platforms for rare diseases in South Africa.
- Create awareness events and campaigns relating to rare diseases
- Develop and distribute educational material and campaigns for the public and targeted stakeholders.
- Develop and participate in civil society alliances with linkages to the rare disease patient journey
Whilst these objectives seem out of reach, we are confident that with the right support, and collaborative efforts amounts all stakeholders, that they are possible.
We look forward to engaging with you on how best we can improve the life’s of those impacted by rare diseases and continue towards our vision of a South Africa where those impacted by rare diseases access life-saving treatment and supportive care for improved quality of life.
Kelly du Plessis
CEO of Rare Diseases SA