Current work for 2014/ 2015

  • Launching a report on accessing specialised services and therapies at the Senedd in early 2015 amongst key stakeholders
  • Supporting Welsh Patients Project- supporting the development of 4 patient groups in Wales where there is currently little support for patients and families affected by rare and genetic conditions. A number of conditions where there is unmet need have been identified, these include:Tuberous Sclerosis, Restless Legs Syndrome, Inherited Eye Disease and Ataxia
  • Access to medicines – working with the All Wales Therapeutics and Toxicology Committee (AWTTC) to support the establishment of a separate process for appraising orphan/ultra orphan medicines in Wales.
  • Welsh Rare Disease Plan – work to support the implementation of the Rare Disease Plan across NHS Wales and raise awareness of the plan
  • Working with the Wales Gene Park Education and Engagement team to support the organisation of training and education work around rare diseases
  • Engaging with patients and the public to raise awareness of rare diseases through public engagement initiatives
  • Working with colleagues at Genetic Alliance UK to secure external funding to develop a Welsh Patient Charter on Access to Medicines in Wales
  • Supporting the development of Genomic Medicine capabilities across NHS Wales specifically in relation to informed consent.

Key achievements in 2014

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  • Development of a network of patients and families affected by rare diseases to be involved with the work of Wales Gene Park
  • Holding four events to engage with patients and families affected by rare diseases across Wales. The events gave an insight into experiences of accessing specialised services and therapies in NHS Wales, funded through the Big Lottery Fund and grants from Alexion and Genzyme. We will be launching a report at the Senedd in January 2015 with findings from the events and recommendations to improve access to services and therapies for patients affected by rare diseases in Wales.
  • Representing the patient perspective on the Clinical Evidence and Evaluation Group for Rare Diseases established by the Welsh Health Specialised Services Committee (WHSSC).The group supports service development in relation to new commissioning processes for specialised services and therapies.
  • Supporting the Welsh Government review of the appraisal process for orphan/ultra orphan medicines through giving oral and written evidence to the review group and supporting the organisation of an event to gather patient views.
  • Representing the patient perspective on the Individual Patient Funding Request (IPFR) review panel.
  • Being invited to be a member of the Welsh Government Planning Group that delivered the Implementation Plan for Rare Diseases
  • Organising a launch event for the draft Welsh Rare Disease Implementation Plan on Rare Disease Day 2014 at the Heath Hospital, Cardiff. The event received coverage on national TV and radio and in Welsh newspapers.
  • Engaging with patients and families through a consultation event with Welsh Government organised by the Wales Gene Park to feedback views on the plan to Welsh Government officials.
  • Responding to Welsh Government consultations as well as providing oral evidence to the Health and Social Care Committee on access to medical technologies in NHS Wales.