Do you live in England? We need your help!

Rare Disease UK is gathering information to look at the implementation of the UK Strategy for Rare Diseases in England. This work is being carried out on behalf of the All Party Parliamentary Group (APPG) on Rare, Genetic and Undiagnosed Conditions.

The aim of the UK Strategy for Rare Diseases is to 'ensure no one gets left behind just because they have a rare disease'.

The UK Strategy for Rare Diseases presents a landmark for patients with rare diseases. It is the first time all four health departments of the UK have come together to respond to the needs of all those affected by rare diseases. The four countries of the UK have until 2020 to implement the 51 commitments outlined in the Strategy.

In order to help put these into action, each country agreed to develop its own implementation plan by February 2014. The departments of health in Scotland, Wales and Northern Ireland have all published country specific plans that reflect their respective health service structures and priorities. The Department of Health in England has not developed or coordinated a plan for England.

To support our investigation into why this is the case and how it affects patients in England, we need to hear from everyone affected by rare diseases – that includes patients, family members and carers.

This survey is one way you can submit evidence to the inquiry. Alternatively, you e-mail your responses to the questions in the survey to with the subject line 'call for evidence'. 

The deadline for evidence submission is 2 January 2017.

More information about the APPG on Rare, Genetic and Undiagnosed Conditions can be found here. A list of the 51 commitments is available here. The UK Strategy for Rare Diseases can be viewed here. If you require further assistance please contact Rosie Collington, Public Affairs Assistant, at Genetic Alliance UK.

We look forward to hearing from you.

The responses you provide will be crucial to helping us get a full, up-to-date picture of the implementation of the UK Strategy for Rare Diseases in England. All the information you provide will be treated as confidential. If, however, you have specific confidentiality concerns please mark this clearly in your submission. You do not have to provide us with any information that may identify you. The findings will be published in time for Rare Disease Day 2017 and they will be widely disseminated locally and nationally. By participating in this call for evidence you are agreeing that the information you provide can be shared anonymously with members of the All Party Parliamentary Group for Rare, Genetic and Undiagnosed Conditions and can be used for policy work by Rare Disease UK and Genetic Alliance UK.

We also welcome input from other stakeholders in the rare disease community, including patient representatives and academics. Please see this guidance for more information and submit your response via e-mail to by 2 January 2017.

* 1. To help us to better understand your response, please tell us if you are:

* 2. If you, or your affected family member, have received a diagnosis, please state the year and the diagnosis:

* 3. At the time of diagnosis, were you provided with information on how to find and contact support groups, what treatment options (if any) were available, and whether there was relevant research being undertaken?

* 4. Do you feel that you are listened to and consulted on to agree the best way forward for your (your child's) care and treatment?

* 5. Do you have a clear personal care plan that brings together health and care services?

* 6. Is the care that you receive (your child receives) coordinated?

* 7. In your opinion, do you think the UK Strategy for Rare Diseases has been effectively implemented in England?

* 8. Please explain your answer:

* 9. Do you have any other comments?

* 10. Please provide an e-mail address: