Aim:  Ensure a challenge-free, supported journey from presentation of symptoms to end-of-life for patients affected by rare diseases.

The overall programme objectives are to;

  • 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;

    • Disease

    • Treatment

    • Supportive services

  • Provide case management services for patients requiring treatment.​

  • Provide tools and resource material to improve patient journey.


Rare Assist was developed with the aim of assisting rare disease patients with access to treatment and services. The project ensures that patients receive appropriate support from presentation of symptoms through to end of life care.


Case Management: The services include claims submissions, benefit applications and authorisations, as well as specialised applications, such as PMB, ex-gratia, etc; in the private medical aid sector. The outcome of such services will result in the decrease of the administrative burden which those with rare diseases currently face, as well as assisting those who do not understand the medical aid benefits which they have access to.


Without appropriate case management services;

  • Patients and Caregivers have an increased administrative burden which causes further stress and anxiety

  • Patient compliance is reduced due to patients not having necessary authorizations and approvals

  • Out of Pocket expenses continue to rise, further burdening the patient

  • Patients do not access their medical aid benefits appropriately  

Referral Systems: Providing referral services for both treatment and support to patients with rare diseases. Through the development of a centralised database of suitable / engaged and treating HCPs, RDSA can navigate patients through the healthcare systems, to ensure they access appropriate and suitable healthcare services.


Develop patient information / educational material relating to;

  1. Disease information

  2. Supportive services

  3. Coping mechanisms

  4. Healthcare issues impacting chronic patients


Development of tools and resources to improve the patient’s

journey such as;

  1. Resource Centre (D6 Connect Mobile App)

  2. Communication platforms for peer-to-peer support

  3. Support group referrals

  4. Patient Connect point


Genetic Counselling: Genetic counselling is a service that is provided by qualified health care professionals to help families understand the implications of genetic conditions. Genetic counsellors assist patients by helping them to understand the cause of a genetic condition, how best to manage the condition and what the implications of a genetic diagnosis are for themselves, their children and other family members. They are also able to assist in managing the emotional impact of a genetic condition. Genetic counselling can assist families in making well-informed decisions about their health and wellbeing.

Benefits of Genetic Counselling include:

  • Increased understanding

  • Better peace of mind for patients and family members

  • Appropriate testing can be arranged

  • Early intervention and support

  • Improved decision – making and family planning

To sign up for Rare Assist, click here



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