Rare Disease UK


Rare Disease UK Newsletter

15th July – 30th September 2010

Dear Rare Disease UK member,

Apologies that you have not received a newsletter from us for a while, but as you will see below, there has been a lot going on which I am pleased to be able to update you on.

Reminder: The initial findings of the Working Groups have gone out for consultation; we would like your thoughts on these. The deadline for responses is the 29th October and the consultation document is available here.


Please click on the headings below to skip to that section:

Consultation on the findings of Rare Disease UK’s Working Groups

Survey on patients’ and families’ experiences of rare diseases

Last few places remaining at EUROPLAN Conference

Rare Disease Day 2011

RDUK Plan for 2011

Joint workshop with the AMRC on rare disease research

New member of staff in Scotland

Policy news and updates from health departments

NHS White Paper, Equity and Excellence: Liberating the NHS

Follow up on the Chief Medical Officer’s Annual Report 2009


Northern Ireland

Rare Disease UK’s activity

Other News

Happy Birthday Rhys Evans!

Science is Vital Campaign

European Union Committee of Experts on Rare Diseases formed

EUCERD Report on initiatives for rare diseases across the EU

Specialised Healthcare Alliance releases new report on commissioning

Northern Ireland: Disability Action responds to withdrawal of funding for planning service

New members

Consultation on the findings of Rare Disease UK’s Working Groups

For the past year Rare Disease UK, with the guidance of our five Working Groups, has been working on a report to develop recommendations on what should be included in a strategy for rare diseases. The final report will be launched to coincide with Rare Disease Day 2011 on February 28th.

We want your feedback on our findings so far and your evidence detailing your own valuable experience to inform the final report.

The health departments of the four UK countries, England, Scotland, Wales and Northern Ireland, have all signalled their willingness to take our findings into consideration when developing a strategy for rare diseases. Your input could help shape this vital strategy.

You can download the consultation document outlining our findings so far here. This document offers an overview of the discussions of the Working Groups and it is aimed at stimulating further input.

We would appreciate contributions from all interested parties. That includes individuals, those representing organisations, patients and patient organisations, clinicians, researchers, academics, industry members, and any other groups interested in or affected by rare diseases. By getting involved you could provide insight on the topics discussed. We also welcome any other suggestions you may have to improve how the NHS delivers services to patients with rare diseases.

All contributions are useful – even if it is just to say that you agree!

Please feel free to distribute the consultation document to anyone who may have an interest in responding.

Download the consultation document (pdf)

Responses are requested by Friday 29th October 2010 in order to allow time for production of a final report by Rare Disease Day 2011.

Please send your responses to Lauren Limb either by email:  , or post:
Rare Disease UK,
Unit 4D Leroy House,
436 Essex Road,
N1 3QP.

We look forward to your responses

Survey on patients’ and families’ experiences of rare diseases

Thank you very much to everyone that responded to the survey of patients’ and families’ experiences over the summer. We received 600 responses from people affected by around 190 different rare diseases.

We are currently working on a publication to accompany the survey results which we will be launching in November. We hope to use this publication to raise awareness of the issues facing patients and families affected by rare diseases, including access to timely diagnosis, good quality information and support, treatment and coordinated care as well as participation in research.

We are aiming to generate media coverage to publicise the launch of the report – if you would be willing to participate in media coverage, please contact Stephen –

The results of the survey will also be useful to inform our report on a strategy for rare diseases which we will be launching on Rare Disease Day 2011.

Last few places remaining at EUROPLAN Conference

We’ve had a great response from people wanting to attend the EUROPLAN Conference in Manchester on the 16th November. There are only a few places remaining so if you would like to attend please ensure that you register as soon as possible. All the details are available here.

We are delighted that all four UK health departments have signalled their intention to attend the conference. By attending the conference you will be able to share your views on a strategy for rare diseases with those responsible for developing the strategy.

The findings from the UK EUROPLAN Conference will be used to inform a report to the European Commission, along with other EUROPLAN conferences being held across the EU. The findings will also help inform our report which we will be launching on Rare Disease Day 2011.

Please see the EUROPLAN website for more details about the project.  

Rare Disease Day 2011

We have begun planning activities for Rare Disease Day 2011 (28th February). We will be holding parliamentary receptions at Westminster, the Scottish Parliament, Welsh Assembly and the Northern Ireland Assembly.

The receptions this year were really successful but we hope with all your involvement, next year will be even bigger!

Save the date:

The reception at the Welsh Assembly will take place at lunchtime on Wednesday 16th March. (We recognise that the date is not as close to Rare Disease Day as we would have liked, but due to recess and lack of availability of the Senedd, this is the best available date)
Darren Millar AM, Chair of the Health, Wellbeing and Local Government Committee has agreed to host the reception.
We will be sending out more information in due course, but if you would like more information, please contact Buddug Williams –

We are currently in the process of finalising the dates for the other three receptions and we will inform you of the dates when they are available.

RDUK Plan for 2011

We have produced a document outlining our plans for 2011. This plan is adaptable according to how the situation develops. For those interested, this document can be viewed here.

Joint workshop with the AMRC on rare disease research

RDUK are planning a joint workshop with the Association of Medical Research Charities on research into rare diseases on the 9th December.

This workshop will be an opportunity to meet with fellow funders of research to discuss some of the challenges of funding and undertaking research into rare disorders.

This workshop will bring medical research charities and industry funding research into rare disorders:

To examine some of the challenges of supporting good quality research in this area, and share experience on ways of encouraging research in their area.
To explore current collaborative activities and scope out key issues and concerns
To discuss how rare disorders research can be encouraged in universities
Examining how rare disorder charities can demonstrate impact through audit

Who should attend?
This workshop would be most useful for chief executives or senior staff with responsibility for research, working in charities that fund rare disorders and also industry members involved in rare disease research.

We will circulate more detailed information shortly, but to be sure of a place, you can book on the AMRC website. 

New member of staff in Scotland

We were sad to see the departure of Claire Cotterill who was working on Rare Disease UK in Scotland. Claire has gone back to university to retrain as a psychologist. We are, however, delighted to welcome Natalie Frankish who has joined Genetic Alliance UK. Natalie will be working on Rare Disease UK’s activity in Scotland. If you would like to get in touch with her, you can do at

Policy news and updates from health departments

NHS White Paper, Equity and Excellence: Liberating the NHS

The consultation phase for the restructuring of the NHS in England now nears completion. RDUK will be responding to the White Paper as well as the supporting document on Commissioning for Patients.

The draft response to Commissioning for Patients is available here. We used the response as an opportunity to welcome the creation of a National Commissioning Board and to assert the importance of specialised commissioning for rare diseases, especially given GP’s lack of knowledge of rare diseases. If you do have any comments could you please send these by the 8th October? Apologies for the short notice, but this is in order to make any changes ahead of the deadline on the 11th October.

We will also be responding to the House of Commons’ Health Committee Inquiry on Commissioning to reassert our views expressed in the response to Commissioning for Patients.

Follow up on the Chief Medical Officer’s Annual Report 2009

You may recall that the Chief Medical Officer’s Annual Report, which was published in March this year, contained a series of recommendations on improving service provision for patients with rare diseases (read about it here). We have been following up what action the Government intends to take as a result of the CMO’s report.

Jim Cunningham MP asked the following question on our behalf:
To ask the Secretary of State for Health what steps he is taking to improve health care for people with rare diseases in response to the recommendations of the chief medical officer's annual report for 2009. [11629]

The response from the Department of Health was:

Mr Simon Burns: The chief medical officer (CMO) produces an annual report on the state of public health, in which the CMO provides a wide range of policy recommendations on public health to the Government. His report for 2009, published in March 2010, included a section which addressed treatments for rare diseases. The White Paper "Equity and Excellence-Liberating the NHS", published on 12 July 2010, includes our future intentions for the commissioning of specialised services. It proposes that highly specialised services which include the treatment of some rare diseases would in the future be commissioned by the National Commissioning Board. The subsequent consultation and engagement paper "Liberating the NHS: commissioning for patients", published on 22 July 2010, is seeking views on a number of questions regarding the proposals on the future arrangement of national and regional specialised services.

We specifically wanted to follow up what action was being taken as a result of the recommendation for a National Clinical Director for Rare Diseases. RDUK strongly endorses this recommendation and we believe it is important that a person of sufficient standing is able to ensure the implementation of a strategy for rare diseases.

Caroline Lucas MP asked:
To ask the Secretary of State for Health whether there are plans to appoint a national clinical director for rare diseases. [14163]

The response from the Department of Health was:

Mr Simon Burns: We are not yet in a position to say how the recommendation of the former Chief Medical Officer to appoint a new National Clinical Director for Rare Diseases might fit with new arrangements for specialised commissioning following the White Paper "Equity and Excellence-Liberating the NHS".
The issue of such an appointment will be considered in the context of the responses we receive to the consultations currently in train on implementing the White Paper strategy.

Very little detail is offered in these responses so we will continue to monitor and press for action as a result of the report.


There was an encouraging response from the Welsh Assembly Government Minister to a question submitted by Helen Mary Jones AM:
What progress has been made on implementing the Council of the European Union's Recommendation on an action in the field of rare diseases in Wales; and looking ahead, what action is the Minister taking to implement the Recommendation including the adoption of a plan or strategy for rare diseases. (WAQ56307)

The response from the Minister for Health and Social Services was:

Currently my officials are in contact with counterparts from the three other Departments of Health in the United Kingdom and also with Rare Disease UK, the leading third sector organisation in this field.  The likely outcome will be a common linked approach across the United Kingdom which reflects the advice in the recommendation and draws on further work in progress at European level, while addressing the local issues in each of the four countries.

Northern Ireland

After our meeting with Michelle O’Neil MLA, the Deputy Chairperson of the Committee for Health, Social Services and Public Safety in June, the Committee wrote to the Department regarding the provision of services for patients with rare diseases. The response from the Minister is available here.

Whist some of the issues are recognised and the letter reaffirms the commitment of the Department to work with the other health departments on meeting the Council Recommendation, we are disappointed that it does not recognise the issues facing patients and families in gaining timely access to necessary services.

Other recent activity

Westminster, Government and the NHS in England

We attended the All Party Parliamentary Group on Medical Research Summer Reception. A report of the event is available here.

We had a catch up meeting with Teresa Moss, Director of NHS Specialised Services and Dr Ed Jessop. We also met with Josie Godfrey, Deputy Director of Policy and Coordination of NHS Specialised Services.

We met with Jim Dobbin MP who is very supportive of a strategy for rare diseases and will help in any way he can.

At the Department of Health in Leeds we met with Clare Brassington, Head of Screening and Specialised Services and John Sherriff. They are responsible for coordination the UK’s response to the Commission regarding implementation of the Council Recommendation on an action in the field of rare diseases and we look forward to working with them moving forward.

Genetic Alliance UK and the UK Genetic Testing Network held a workshop on issues around diagnosis of rare diseases. The results of this workshop will be used as evidence to inform RDUK’s report on a strategy for rare diseases.

We attended the launch of the new RASopathy network at the House of Lords. This is a patient-clinician initiative supported and promoted by Genetic Alliance U.K., working in partnership with Costello Syndrome support group, the Neurofibromatosis Association and patients and families affected by Noonan syndrome and CFC in the UK. The collaboration is committed to both supporting families and promoting research, with the aim of improving understanding of all aspects of the conditions and ultimately the development of treatment trials.

Alastair met with Mark Bale, Head of Genetics at the DH. Topics for discussion included the NHS restructuring and implementation of the CMO’s recommendations in the 2009 Annual Report.


We met with Deirdre Evans, Director of the National Services Division and members of the team to update them on progress and to discuss examples of good practice as well as issues around accessing services in Scotland.

Other activities

We have been meeting with our industry members to keep them updated on progress. We also met with representatives from Novartis and BioMarin. We are delighted that BioMarin have joined RDUK and we are hopeful that Novartis will join in 2011 also.

The British Paediatric Surveillance Unit (BPSU) will be celebrating its 25th anniversary in 2011 and they will be holding a series of events to mark the occasion. We met with Professor Alan Emond Chair of the BPSU and the Chair of the British Association for Community and Child Health to discuss both of our work further and possible collaborations to mark their anniversary.

RDUK exhibited at the British Society of Human Genetics Annual Conference at the University of Warwick.

At Cardiff University we met with Professor Steve Dunnett and Professor Anne Rosser who co-direct the Brain Repair Group whose mission is to develop cell based therapies for neurodegenerative disease, especially Huntington’s disease and Parkinson’s disease, based on primary fetal, progenitor and stem cell transplantation in the brain. We discussed the UK arm of the Huntingdon’s research network and we are pleased that both will be responding to our consultation document.

Other news

Happy Birthday Rhys Evans!

We are delighted to wish a happy birthday to Rhys Evans who turned 10 on the 1st October. Rhys was born with a rare condition meaning that he was born with no functioning immune system and no resistance to infection. Thanks to ground-breaking gene therapy treatment at Great Ormond Street Hospital, Rhys has a working immune system and is able to live a normal life. Rhys and his mother Marie, featured on BBC Breakfast (watch here) along with Professor Adrian Thrasher who is on Rare Disease UK’s Working Group on the Coordination of Research.

We were delighted to meet Rhys and his family at the Rare Disease Day reception at the Welsh Assembly this year and we are pleased that he is doing well.

Buddug and Stephen from RDUK with the Evans Family

Science is Vital Campaign

Rare Disease UK encourages its members to support the Science is Vital Campaign.

Science is vital kicked off with a facebook campaign led by a group of scientists. They have teamed up with support from the Campaign for Science & Engineering to start a group called Science is Vital calling on concerned scientists, engineers and supporters of science to sign their petition and campaign to prevent destructive levels of cuts to science funding in the UK.

They're aiming to demonstrate the weight of concerns across the UK over the decisions the Government is currently making and ensure there is a recognisable lobby group for them to listen to.

What does the petition say?
The campaign focuses on a clear call – the petition asks the Government: “to recognize that science is vital, and to lay out a supportive strategy for UK science and engineering, maintaining a level of investment at least in line with economic growth”

What are they asking people to do?
Sign the petition here.
Julian Huppert MP has also laid an Early Day Motion (767) in the House of Commons in support of the campaign. The campaign encourages people to write to their MP to ask them to sign the EDM.

Science is Vital is also planning a demonstration in central London on 9th October if you would like to attend the rally do let them know.

European Union Committee of Experts on Rare Diseases formed

All appointments to the new European Union Committee of Experts on Rare Diseases (EUCERD) have now been finalised and the EUCERD is due to hold its first meeting on the 9th December. The Chair of Rare Disease UK, Alastair Kent, will be sitting on the committee.

The committee replaces the previous Rare Disease Task Force, which Alastair was also a member of. The task force played a pivotal role in drafting the European Commission’s Communication on rare diseases: Europe’s challenges which led to the Council’s Recommendation on an action in the field of rare diseases.

The EUCERD is charged with aiding the European Commission with the preparation and implementation of Community activities in the field of rare diseases, in cooperation and consultation with the specialised bodies in Member States, the relevant European authorities in the fields of research and public health and other relevant stakeholders. The EUCERD will foster exchanges of relevant experience, policies and practices between these parties.

EUCERD Report on initiatives for rare diseases across the EU

Whilst on the subject of the EUCERD, the Scientific Secretariat of the Committee has compiled a report on initiatives at both EU level and Member State level for rare diseases.

The report is available here.

Specialised Healthcare Alliance releases new report on commissioning

The Specialised Healthcare Alliance (SHCA) has published a report on England’s new approach to commissioning health services, products and technologies for small patient populations. The report “The Challenge of Rarity  - Putting the N in the NHS”  makes a series of recommendations in the area and is available to download here.

Northern Ireland: Disability Action responds to withdrawal of funding for planning service

Disability Action has been notified by the Planning Service that it will cease funding its Access Service at the end of September 2010. Discussions with Minister Poots have seen the reinstatement of 25% of the original funding but what was a comprehensive service has now been decimated.
Disability Action will no longer be in a position to examine planning applications to ensure that in future public buildings continue to be accessible, nor to provide advice and advocate for disabled people experiencing discrimination and exclusion in Northern Ireland.

Disability Action is actively campaigning for the retention of the service, as part of this campaign they are asking for support by completing a petition.

More information is available on their website 

New members

We are delighted to welcome the latest partners to the campaign for a strategy for rare diseases.

Action Duchenne - Action Duchenne is the national charity that exclusively funds research for a cure and promotes campaigns for better medical care for Duchenne and Becker Muscular Dystrophy.

Arachnoiditis.co.uk – This website aims to raise awareness of arachnoiditis, offers advice and provides a forum for those affected in the UK to share their experience.

Association for Glycogen Storage Disease UK - The Association for Glycogen Storage Disease (UK) provides support and help for individuals and families affected by GSD. It does this by putting people in contact, providing information, issuing Newsletters and holding Conferences and Workshops.

British Paediatric Orphan Lung Diseases - BPOLD aims to establish a registry of nine rare lung diseases in children in the UK. The registry will provide epidemiological data on the prevalence and incidence of individual rare lung diseases and inform research projects which will increase our understanding of these diseases and ultimately improve treatment strategies for these children.

British Paediatric Surveillance Unit - The British Paediatric Surveillance Unit (BPSU) was jointly set up by Royal College of Paediatrics and Child Health, Health Protection Agency and the Institute of Child Health, London in 1986 to undertake active surveillance of rare paediatric disorders.

The Chromosome 18 Registry and Research Society (Europe) – The Society aims to bring the latest research and information on Chromosome 18 disorders to people directly affected by the disorders, those affected by the disorder - carers, parents, siblings and grandparents - together with the professional clinicians, geneticists, therapists and educational experts who specialise in relevant disabilities.

HUM NAWA – HUM NAWA is an Asian mothers’ support group supporting Asian mothers of children and adults with disabilities including rare diseases.

Noonan UK – Noonan UK is the new UK chapter of the Noonan Syndrome Support Group, an established charity in the US for 14 years. The UK website is not yet up and running, but for more information please contact the Director, Michelle Ellis.

Raynaud's & Scleroderma Association - Raynaud's & Scleroderma Association, a national charity and self help organisation, committed to supporting people who have these conditions and their carers.

The Scottish Post-Polio Network - The Scottish Post Polio Network was formed in 2001 to increase awareness of Post Polio Syndrome and provide a support network for those with the condition.

If there is anything that you would like to include in the next newsletter, please get in touch.

Best wishes,

Stephen - Rare Disease UK Secretariat

020 7704 3141