Wednesday Programme and Presentations

08:30 – 09:00

Opening Ceremony


09:00 – 10:00

Mitochondrial Diseases

Genetic Landscapes in South Africa


10:30 – 12:30

Best practices in Transitional Medicine: Rare disease transition and your best chance of getting it rightChris Hendriksz, Salford Royal NHS Foundation Trust, UK

Paediatric rheumatology: What is Rare in Paediatric Rheumatology?Chris Scott, University of Cape Town, South Africa

Hyperammonemia and inborn errors of metabolism (IEMS): known and novel application for differential diagnosisMarli Dercksen, North-West University, South Africa

Rare Tumours and Malignancies

Feeding support: a multidisciplinary approach

  • Feeding matters: creating a seamless timeline from birthClaudia McGregor, The Children’s Therapy Centre, South Africa
  • Powerful implications of sensory development – Tracey Venter, The Children’s Therapy Centre, South Africa
  • The impact of gastro-intestinal discomfort on feeding difficulties – Inge Retief, Inge Retief & Associates, South Africa

Supportive therapy – what is accessible in South Africa

  • Early intervention and neuromusculoskeletal healthJacqui Bunge, The Children’s Therapy Centre, South Africa
  • How we move matters – Andrea Fraser-Aldridge, The Children’s Therapy Centre, South Africa
  • Knowledge and understanding of parents of children affected with Sickle Cell Anaemia in Cape Town – Katryn Fourie, Stellenbosch University, South Africa


13:30 – 15:00

Inborn Errors of Metabolism

Palliative Care in South Africa

  • A case based palliative care approach to children with rare diseases – Julia Ambler, Umduduzi Hospice Care for Children, South Africa
  • The role of palliative care in rare diseases- Michelle Meiring, Paedspal Cape Town, South Africa
  • Palliative care: the “magic word” to quality of life for persons with disabilities – Petra Burger, HPCA, South Africa



Ethics discussion