On 29 November 2016, Rare Disease UK held a briefing session on rare, genetic and undiagnosed conditions in the Scottish Parliament. The session was sponsored and supported by Bob Doris MSP and brought together a number of key stakeholders and Members of the Scottish Parliament.
The meeting began with a welcome message from Alastair Kent, Chair of Rare Disease UK. Alastair spoke of the progress that has been made in Scotland to develop and implement, ‘It’s Not Rare to Have a Rare Disease: The Scottish Implementation Plan’ and the commitment that has been made to improve services for rare diseases in Scotland through the work of National Services Division, the Scottish Medicines Consortium and the Chief Scientist Office. He also spoke of the very important work of the Cross Party Group on Rare Diseases in the last Parliament and the importance of bringing this group together again as the Cross Party Group on Rare, Genetic and Undiagnosed Conditions in 2017.
Those in attendance also heard from Fiona Murphy, the Director of National Services Division (NSD) Scotland. National Services Division is responsible for commissioning and performance managing Scotland’s National Screening Programmes, Specialist Clinical Services and National Managed Clinical Networks on behalf of the NHS in Scotland. Fiona noted that this work is influenced by the Scottish Rare Disease Plan and that good work is being made towards meeting the objectives of the Plan, including the development of rare disease patient pathways.
Dr Alan McNair, Senior Research Manager for the Chief Scientist Office (CSO), gave an excellent presentation on how research into rare diseases in Scotland is supported. He shared information on the CSO’s Health and Social Care Research Strategy, which aims to increase the level of high-quality health research conducted in Scotland and spoke of the importance of collaboration with third sector organisations.
The meeting was attended by MSPs with a strong interest in health issues in Scotland. We were grateful to have Bob Doris, Clare Adamson, Miles Briggs, Ivan McKee and Anas Sawar in attendance and grateful for their pledge of support for families affected by rare, genetic and undiagnosed conditions in Scotland. Many other MSPs have also asked to receive briefing packs and to meet me.
It was extremely important that the MSPs and policy makers in attendance were able to hear from the those affected by rare, genetic and undiagnosed conditions and it was wonderful to have three patient speakers willing to share their personal stories on the day.
SWAN UK member Wendy Meek shared her story of two of her children, Justin and Charlotte Lily. Justin passed away when he was ten years old and Charlotte Lily, who is five years old, has an undiagnosed life limiting genetic disorder. Wendy spoke of the difficulties that arise without a diagnosis, difficulties in receiving the appropriate care, support and information, difficulties accessing the appropriate clinical expertise and the very emotional and stressful journey that there family has been on. Wendy shared her hopes for a diagnosis for Charlotte and spoke of the impact becoming a member of SWAN UK.
She explained that SWAN UK has been a lifeline and a friendly ear, and that the community has offered her family an incredible amount of support and made her realise that her family is not alone.
We are grateful to all who attended this important meeting and over the course of the next few months we will be continuing our work in Scotland to raise awareness of rare, genetic and undiagnosed conditions in the Scottish Parliament and to ensure a Cross Party Group is established in 2017.