Genetic Alliance UK/ Rare Disease UK

1. Genetic Alliance UK/ Rare Disease UK Emma Hughes Development Officer for Wales

2. Overview • Role of the Development Officer in Wales • Examples of current projects: -Welsh Delivery Plan for Rare Diseases -Rare Disease Day 2014 -Access to medicines -Accessing specialised services -Supporting patients in Wales • Policy work • Contact Information

3. Role of the Development Officer in Wales • Promote awareness of the needs of families living with genetic conditions for services and support – these should be appropriate, user friendly and reflect current practice • To bring together charities, support groups and other voluntary bodies in Wales. This network will inform the debate about scientific and healthcare developments from the perspective of those living with genetic conditions • To inform the political and professional discussions in Wales about the services and resources needed to provide high quality health services for genetic conditions.

4. Current projects – some examples • Campaign for a strategy for rare diseases • Rare Disease UK was established in response to the unmet healthcare need of the millions of people in the UK living with a rare disease and who currently struggle to gain access to integrated care and support from the NHS • RD UK have been campaigning for the development of a strategy for rare diseases to ensure patients and families living with these conditions have equitable access to effective services.

5. Welsh Delivery Plan for Rare Diseases • The UK Strategy for Rare Diseases was launched in November 2013 – our Development Officer was part of the Stakeholder Forum that developed the strategy. • In responding to the UK Strategy, the Welsh Government were tasked with developing a Welsh plan for rare diseases by the end of February 2014. • Our Development Officer represented patients and families on the Rare Disease Task Group and has been involved in developing the Welsh Delivery Plan which is due to be launched on 28th February 2014, Rare Disease Day.

6. Rare Disease Day reception • Rebecca Evans AM and RD UK recently hosted an evening reception at the Senedd, National Assembly for Wales to mark the 7th annual Rare Disease Day • Presentations from Alastair Kent OBE, Chair of RD UK, Dr Chris Jones, the Deputy Chief Medical Officer and Marie James, a parent of an adult with Tuberous Sclerosis focused on the Welsh implementation plan for rare diseases. • The event brought together stakeholders affected by rare diseases including patients, families, patient organisations, healthcare professionals, researchers, policy makers and industry.

7. RD UK Reception in the Senedd

8. Access to medicines • For the last year, our Development Officer has been involved in reviews of the appraisal process for medicines in Wales. • This includes a review of the orphan/ultra orphan medicines appraisal process as well as being the patient representative for the ongoing review of the Individual Patient Funding Request process. • This work involves liaising with Welsh Government, Public Health Wales and AWTTC to ensure patients views are represented so that the process for accessing medicines for rare and ultra-rare conditions can be improved for orphan and ultra-orphan products.

9. Accessing specialised services • In 2013, our Development Officer secured external funding of £21,000 to establish a network of patients and families in Wales with rare conditions. • The funding also supported 3 events across Wales to meet with patients and families to discuss their experiences of accessing specialised services for rare conditions. • The findings identified a number of gaps in the current provision of services. As a result, work is now underway in collaboration with the Welsh Health Specialised Services Committee (WHSSC) to improve access to specialised services for patients with rare conditions in Wales.

10. Supporting patients in Wales • A project that will be undertaken in 2014 will be supporting patients with genetic and rare conditions to establish patient groups where there is an unmet need. • For example, there are no support groups in Wales for patients with conditions such as Pompe, Tuberous Sclerosis and Restless Legs Syndrome. • Where there is a UK charity, I will be working in collaboration with them to set up support groups locally in Wales.

11. Policy work • Responses to a number of Welsh Government consultations: -Access to medical technologies in NHS Wales (oral evidence to be given to the Welsh Assembly in March 2014) -The role of Healthcare Inspectorate Wales -Review of the appraisal process for orphan and ultra-orphan medicines -Review of the Individual Patient Funding Request process -Briefing AM’s about the Rare Disease Strategy and Implementation Plan/ Access to medicines in Wales

12. Contact Information Please contact me if you have any further questions: Emma Hughes emma@geneticalliance.org.uk 02920 748154 Would you like to raise your hands for rare diseases? Please visit: www.raiseyourhand.co.uk