At Rare Disease UK, the final few weeks of 2016 are filled with celebrating the successes of our community, and, of course, lots of planning for our work in 2017.
We are proud of what has been achieved this year and are thrilled that our support base now exceeds over 2000 patient organisations, patients, parliamentarians, members of the public, academics, clinicians and industry. The year may be winding down, but as you will read below, the efforts of the rare disease community to bring about lasting change for those affected by rare diseases are not!
FINAL CHANCE TO SUBMIT EVIDENCE TO THE APPG INQUIRY
9am, Monday 2 January 2017
The deadline for submitting evidence to the inquiry into the implementation of the UK Strategy for Rare Diseases in England is now less than three weeks away. Coordinated by the All Party Parliamentary Group (APPG) on Rare, Genetic and Undiagnosed Conditions, the inquiry aims to find out why an implementation plan has not been developed for England, and what impact the absence of an implementation plan has on patients.
If you are a rare disease patient, family member or carer, please read this guidance for submitting written evidence. You can submit evidence via e-mail or online using this form. We also welcome input from other stakeholders in the rare disease community, including patient representatives and academics. Please see this guidance for more information.
For up to date information about the APPG, please visit Genetic Alliance UK’s website.
HIGHLY SPECIALISED TECHNOLOGY EVALUATIONS
Are you part of a patient organisation that is planning to respond to the consultation on the Highly Specialised Technology programme that NICE and NHS England are currently running? Genetic Alliance UK recently hosted a webinar on what the proposed changes could mean for patients with rare and genetic conditions to help you respond.
MSPs MEET PATIENTS AND FAMILIES IN HOLYROOD
On Tuesday 29 November, we hosted a briefing session with Members of Scottish Parliament (MSPs) in Holyrood. They were joined by patients and families affected by rare, genetic and undiagnosed conditions. The session also featured short speeches from Fiona Murphy (Director of National Services Division), Alan McNair (Senior Research Manager at Chief Scientist Office) and our Chair, Alastair Kent OBE.
It was a fantastic opportunity for MSPs to find out about the Scottish Rare Disease Plan, and also to learn about supporting those in their constituencies who live with rare, genetic and undiagnosed conditions.
For more information about the event and our work in Scotland, please contact Natalie, Genetic Alliance UK’s Policy and Engagement Manager for Scotland, on
INDIVIDUAL FUNDING REQUESTS
Genetic Alliance UK is taking evidence on the Individual Funding Requests process. The survey is available here and is open to patients, patient representatives and clinicians.
Responses to this survey will help Genetic Alliance UK to understand how the current system is affecting patients across the genetic and rare disease community.
LETTERS FROM A MAL DE DEBARQUEMENT SYNDROME PATIENT
In this patient experience blog, Polly writes about the things she wishes she could say to clinicians and other people who have been involved in her care since diagnosis.
If you’re interested in writing a blog about your experience of rare disease, we want to hear from you! Please read our guidelines and then submit your blog idea to us by e-mailing Rosie on ■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■.
ANNUAL PATIENTS’ MEET-UP IN WALES
Last Thursday, we teamed up with the Wales Gene Park and our parent charity, Genetic Alliance UK, to host our annual WelshRare Disease Patient Network event. Rare disease patients and families were joined by researchers and health professionals for a day of inspirational and educational talks (as well as a 2-course festive lunch!)
Thank you to all our supporters who came - we hope you enjoyed it as much as we did.
READ ABOUT THE APPG’S NOVEMBER HEARINGS
In November, the APPG on Rare, Genetic and Undiagnosed Conditions hosted a series of hearings with patient representatives, the Department of Health and its arm’s length bodies to collect evidence as part of its inquiry into the implementation of the UK Strategy for Rare Diseases. You can now read a summary of all three events on our website.
BUILDING RARE COMMUNITIES
Genetic Alliance UK will be holding a workshop in February for patients who want to set up a support group, and for those who have set one up in the last year. If you are interested in taking part on behalf of a group you have helped to set up, please register your interest here.
More information about the workshop can be found on Genetic Alliance UK’s website.
RARE DISEASE UK ON INSTAGRAM
We have officially launched on Instagram! Follow @rarediseaseuk to keep up to date with our work and see what other rare disease patients are up to.
EVENTS AND NEWS FROM OUR SUPPORTERS AND ELSEWHERE
RARE DISEASE SURVEY CLOSING SOON
The Rare Barometer Survey will close before Christmas – the questions have been specifically designed to help organisations in their campaigning and policy work. Help EURORDIS by taking part! This data will be a great resource for the whole rare disease community across Europe.
#FAKEMEDS ADVENT CALENDAR
The Medicines & Healthcare Products Regulatory Agency has launched a digital advent calendar with daily tips to help patients and the public buy medical products safely online.
Click here to open today’s window.
PATIENT EXPERIENCE OF PRIMARY IMMUNODEFICIENCY DISORDERS
Our supporter, PID UK, has launched a report looking at the experience of patients affected by primary immunodeficiency disorders (PID). They have looked at some interesting areas of the lives of patients including the amount of time it takes to get a diagnosis, how decisions are made about care and the psychological and financial impact of life with PID. Read about what they found here.
PATIENT AND PUBLIC VOICE AT NICE
The National Institute of Health and Care Excellence (NICE) has launched a consultation on how patients and the public can help develop NICE guidance and standards. To get involved you just need to read the consultation document, and fill in the online survey by 28 February 2017. Read more about the consultation here.