Rare Disease UK


Rare Disease UK – December 2011 e-newsletter

Dear member,

Rare Disease UK (RDUK) reached two significant milestones recently. Not only did we celebrate our third birthday, but this also coincided with achieving our 1000th member! We are delighted with the progress that has been made since we were established following the European Commission’s Communication on Rare Diseases: Europe’s Challenges in November 2008. We are now on the verge of seeing the launch of the public consultation on a UK plan for rare diseases (see more below) and we would like to take this opportunity to thank all of our members and those who have helped us along the way.

This will be the last newsletter of 2011, so on behalf of RDUK, we wish you a very Merry Christmas and a Happy New Year!

Best wishes,

Stephen Nutt - Executive Officer

020 7704 3141


Please click on the links below to skip to the following stories, or scroll down the page.

Update on progress towards a UK plan for rare diseases

RDUK’s plans for 2012

Rare Disease Day 2012

Access to orphan medicines in Scotland

Last chance to response to Northern Ireland survey on diagnosis of rare diseases


Other news and updates from members and partners

- Nominations for the International Rare Disease Research Consortium open

- Criteria for Centres of Excellence for Rare Diseases unveiled

- EU Budget 2014-2020: Commission unveils new and ambitious Health and Consumer Programmes

- European actions to improve the lives of patients living with rare diseases in Europe

- New guide to registries produced

- The ITP Support Association campaign to raise awareness of ITP

- Moebius syndrome awareness

Member’s events

Thyroid Eye Disease patient meeting

New members

Update on progress towards a UK plan for rare diseases

Sorry if it seems we have been a bit quiet on progress on the national plan for rare diseases of late. We have been waiting for the four UK health departments to launch the public consultation on the draft plan. During November, we received letters from both Secretary of State for Health, Andrew Lansley, and Health Minister, Earl Howe, signalling their hopes that the consultation would be launched before Christmas. We have also asked some supportive politicians in each of the home nations to ask parliamentary questions on this issue and the responses have all indicated that it is hoped the consultation would be launched by the end of the year. Obviously this is now not long away so January may be more realistic.

As far as we know, the consultation will be on one UK plan for rare diseases. This will be launched for consultation separately by each of the four UK health departments in England, Scotland, Wales and Northern Ireland for the mandatory 12 week public consultation period. During this period, anyone with an interest can respond. The health departments will then analyse the responses they have received and then reconvene to develop the final plan accordingly.

Rest assured that we will be making sure you know when the consultation is launched. Delays are inevitable during the process as the draft plan has to receive ministerial sign off in each of the four home nations before progressing. Hopefully we will be able to report some exciting news soon!

Rare Disease UK’s plans for 2012

Over the past few months we have been working hard on developing our plans for next year and striving to obtain the funding we need to conduct this activity. I’m pleased to be able to share with you our Action Plan 2012 which outlines what we would like to do.

Read the Action Plan 2012 here

During next year we will move to a new phase of RDUK’s work, which will look at the implementation of the UK plan for rare diseases. We want to make sure that real, meaningful progress is made for patients and families affected by rare diseases under the plan so we will be both scrutinising the implementation in the health systems of England, Wales, Scotland and Northern Ireland and hoping to work with others to aid progress.

Please feel free to get in touch should any area of activity outlined in the Action Plan 2012 be of particular interest, but we will of course, be keeping you up-to-date on our activities and also, how you can get involved.

Rare Disease Day 2012


Yes, it’s coming up to that time again – International Rare Disease Day 2012! As it’s a leap year next year, Rare Disease Day returns to its original date – the 29th February (a rare day, gettit?!)

If you are planning any awareness/fundraising activities to mark the day, please do let us know so we can share this with our members.

A few of our members have been asking when we will be holding parliamentary receptions to mark the day. The simple answer is, we won’t be holding any next year. We hope this doesn’t disappoint any of you, but the reasons for this are manifold:
- These events have to be planned a long time in advance and we couldn’t have been sure at what stage we would be at in terms of progress towards the rare disease plan.
- We didn’t want our members or politicians to get Rare Disease Day reception fatigue! Also, after our big report launch for Rare Disease Day this year, we didn’t want it to seem like we didn’t have anything new to say.
- Organising these events take up a great deal of time and money and we felt that this could be better invested in other activities to generate more benefit.
- We are planning on holding four one-day conferences in London, Edinburgh, Cardiff and Belfast during the consultation phase on the rare disease plan, and we know it can be difficult for our members to attend multiple events.

This is not to say we won’t be conducting any activities. We will be conducting contact campaigns to politicians in each of the UK parliaments/assemblies and we’ll be trying to obtain media coverage around the day – we will need your help in these activities! Also, we will be able to participate in others’ activities, including the Rare Disease Day event at Royal Holloway University (click here for more information) and a Northern Ireland Rare Disease Partnership event. If you are holding an event and would like us to participate, please do get in touch –

In the meantime you can show your support for Rare Disease Day through the following simple steps:
- Become a friend of Rare Disease Day on the official website: www.rarediseaseday.org
- Follow Rare Disease Day on Twitter: @rarediseaseday
- Join the Facebook group: www.facebook.com/rarediseaseday

Access to orphan medicines in Scotland

You may recall that in our last newsletter we informed you that following our petition on access to orphan medicines in Scotland (view the petition and evidence so far here), the Scottish Parliament Public Petitions Committee held an oral evidence session, at which Chair of RDUK, Alastair Kent, gave evidence (read the story here).

Since this, the Committee has collected evidence from a range of bodies including the Scottish Medicines Consortium, the Scottish Government and each of the Health Boards in Scotland. RDUK had the opportunity to respond to this evidence and this will all be considered at a meeting of the Committee today (13th December). At this meeting the Committee will be deciding the next steps and we hope that active measures will be undertaken to look at how we can improve access to orphan medicines for rare diseases in Scotland.

Last chance to respond to Northern Ireland survey on diagnosis of rare diseases

Live in Northern Ireland? We need your help! New survey investigates patients’ experiences of getting a diagnosis of a rare disease in Northern Ireland.

Rare Disease UK has been actively involved with the Northern Ireland Rare Disease Partnership. The Partnership, with the support of the Patient and Client Council has launched a survey which aims to capture experiences of obtaining a diagnosis of a rare disease in Northern Ireland. The survey will inform a new publication which will be launched on Rare Disease Day 2012 (29th February). This publication will be instrumental in informing RDUK’s and the Northern Ireland Rare Disease Partnership’s future campaigning work.

The survey can be filled out by a patient affected by a rare disease or a carer, but remember we are looking for responses from Northern Ireland only.
The survey is available online by visiting the following link: https://www.surveymonkey.com/s/raredisease

If you would prefer a hard copy of the survey, or if you need any further assistance in completing the survey, please contact Sarah McCandless or Richard Dixon at the Patient and Client Council -  0800 917 0222 -

The deadline for completing the survey is the 16th December.

We would be grateful if you could forward information about the survey to any contacts in Northern Ireland who you think may have an interest. The more responses we receive, the stronger the results!


We have recently responded to a number of public consultations (please follow the links to read our responses):

The Future Forum 2 listening exercises on:
how information can be improved;
education and training;
integration of services.

And also the Royal College of General Practitioners’ Consultation Paper on the Integration of Care.

In each of these responses we drew on the evidence we have gathered and the recommendations we made in our report, Improving Lives, Optimising Resources: A Vision for the UK Rare Disease Strategy, to outline how improvements can be made in these areas for patients and families affected by rare diseases.

Updates from members and partners

If you have any relevant news/updates that may be of interest to our members that you would like us to include in the next newsletter, please contact –

Nominations for the International Rare Disease Research Consortium open

(Courtesy of OrphaNews Europe)

The third workshop of the International Rare Disease Research Consortium (IRDiRC) was held in Montreal, Canada on 8-9 October 2011, following two previous workshops in Iceland and the USA. The workshop, hosted by the Canadian Institutes for Health Research and Genome Canada and co-organised with the European Commission and the US National Institutes of Health, came just before the 12th International Congress of Human Genetics; making Montreal the place to be in October.

For the third IRDiRC meeting, some 100 international participants representing public and private funding organisations, scientists, regulators, industry, and patient groups were onboard, working together to develop common scientific and policy frameworks that will guide the activities of the participating IRDiRC members. Identifying priority research areas was a principal topic, as well as addressing the regulatory challenges in an international context. Initial goals put forward by the IRDiRC founders include 200 new treatments for rare diseases by the year 2020 and have a diagnosis available for most, if not all, rare diseases. A series of Round Table presentations provided an update of the current and planned actions by the funding agencies committed to IRDiRC.

The meeting was also the occasion to discuss establishing a governance structure. Nominations for the three IRDiRC Scientific Committees, encompassing Diagnostics (including sequencing and characterization), Therapies (including pre-clinical and clinical development), and Horizontal Aspects (including ontologies, national history, biobanking, registries etc) are now open. The Scientific Committees will advise the Executive Committee on research priorities for future R&D investments and on progress made of funded research. Specifically, the Scientific Committees will: 
- Act as scientific coordinating bodies;
- Propose research priorities for consideration by the Executive Committee;
- Propose policies and guidelines for adoption by the Executive Committee;
- Assess progress made by the Working Groups (i.e. projects funded);
- Address arising issues of scientific nature;
- Encourage exchange of protocols and best practices, and agree on standard operating procedures, quality standards, etc.

The deadline for submitting a nomination is 15 December 2011. For more information, please click here.

An Interim IRDiRC Executive Committee meeting is scheduled for January 2012. To be held in Belgium, appointing the members to the IRDiRC Scientific Committees will be a priority at this meeting.

Criteria for Centres of Excellence for Rare Diseases unveiled

The European Union Committee of Experts of Rare Diseases (EUCERD), of which the Chair of RDUK is a member, has published its quality criteria to inform the establishment of Centres of Excellence for rare diseases across the EU. These criteria were partly informed by the EUROPLAN conferences held across 15 EU members states during 2010. RDUK held the UK EUROPLAN conference in Manchester in November that year.

The report outlining the recommendations in full can be read by clicking here.

EU Budget 2014-2020: Commission unveils new and ambitious Health and Consumer Programmes

On the 9th November, the European Commission adopted proposals for the new Health for Growth and Consumer Programmes. The two programmes aim to foster a Europe of healthy, active, informed and empowered citizens, who can contribute to economic growth.
These new programmes will run from 2014-2020 with a budget of €446 million for the Health for Growth Programme and €197 million for the Consumer Programme. Focus will be on fewer concrete actions that offer clear EU added-value.
The Health for Growth Programme aims to support and complement the work of Member States to achieve the following four objectives:
- Developing innovative and sustainable health systems;
- Increasing access to better and safer healthcare for citizens; 
- Promoting health and preventing disease;
- Protecting citizens from cross-border health threats.

In announcing the new Health and Consumer programmes, Commissioner Dalli said, "These two programmes are about people; about fostering the conditions for people to live to their full potential and play a key role in society and in the economy. Keeping people healthy and active for longer is good for people and is good for jobs and growth. Confident, empowered consumers create thriving markets. I am confident the two programmes will make a significant contribution to achieving Europe 2020 goals – to create smart, sustainable and inclusive growth by the end of this decade".  

1. What the programme aims to achieve
This programme aims to build on the previous Health Programmes to support and deliver action aimed at encouraging the uptake of innovation in health, fostering better and safer healthcare, promoting good health and preventing diseases, and protecting citizens from cross-border health threats.

2. Examples on which further action will be built:
-   Co-operation on health technology assessment (HTA), an EU-wide voluntary network of Member States' HTA agencies to share information on the effectiveness of health technologies such as medicines, medical devices, and preventive measures, to support national decision-making on technology;
-   Co-operation on rare diseases at European level to improve prevention, diagnosis and treatment for patients with rare diseases across the EU, including the EU portal for rare disease (www.orpha.net), the world reference database on rare diseases;
-   Cancer prevention and control, through EU-wide screening guidelines to improve early detection so that the disease can be diagnosed at an early stage and lives can be saved; and through exchange of knowledge and best practice on cancer prevention, research and care.

3. Background
These new EU programmes build on the ongoing Health and Consumer Programmes, which provide valuable opportunities for Member States to invest in health and consumer protection. The current programmes run until the end of 2013.
The new Health and Consumer Programmes are part of the EU's financial priorities for 2014-2020 (the EU Multiannual Financial Framework), which was announced by the European Commission in June.

4. Further information:
For information on the Multiannual Financial Framework 2014-2020 please see:
For information on the 2008-2013 Health Programme "Together for Health"
Commissioner John Dalli's website:

European actions to improve the lives of patients living with rare diseases in Europe

In October a meeting was held by the European Commission’s Agency for Health and Comsumers in Luxembourg looking at what actions had been taken by the Commission in the field of rare diseases. There is more information, including an impressive video featuring one of our members Jo Grey from Amend on the following website: http://ec.europa.eu/eahc/health/Rare_Diseases_conference_2011.html

The following account of the meeting was provided by Alstrom UK. Kay Parkinson attended this meeting in her role as Lead Co-ordinator for Dissemination of the EU WABB (Wolfram, Alström, Bardet Biedl) Project.

“Although originally I was asked to speak on the second day I was contacted by the EAHC and asked if I would also speak on the first day as the founder and Chief Executive of Alstrom UK and a parent when testimonies of patient/carer experiences were being heard.  This turned out to be fortuitous as the talks on the EU projects the next day were all reduced to 3 minutes (originally 10-15mins) due to time constraints.

The testimony on Mathew and Charlotte’s [Kay’s children] lives; the late diagnosis, the lack of information, the lack of care pathways leading to the founding of Alstrom Syndrome UK and later multi-disciplinary clinics, proved touching for the assembled media from across the EU. The response for more information on Alström and the forming of the EU WABB and the Ciliopathy Alliance was very positive. Key people from the press, Orphanet, Genzyme (a large Pharmaceutical Company) and Fighting Blindness all asked if they could join my table for dinner to ask more questions.  I had started out with a sore throat and by the end of the day had no voice left.

For the second day’s talk on the EU WABB project, now reduced to 3 minutes, it was fortunate that Segolene Aymee, another partner on the EU WABB, was also at the meeting and as no sound would now come from my voice! She was able to give a very succinct précis of the talk Professor Barrett and Amy Farmer had prepared for me. As I had  talked at length on the first day, Segolene was able to refer back to much of what I had said on day one ensuring that all present got a very good picture of the EU WABB project-very much related to the human experience which went down really well with the press.

I still have a croaky voice but hope it clears by Thursday when I am due to attend RARE 2011 in Montpellier, France where I have already received a request to speak with another large pharmaceutical firm.”

New guide to registries produced

Our friend, the Specialised Healthcare Alliance (SHCA), has published a guide aimed at helping patient organisations establish registries by answering two main questions:
Would it be useful and practicable for us to set up a registry?
What are the key issues that we must take into account when setting up a registry?

This guide can be found here.

The ITP Support Association campaign to raise awareness of ITP

(Article courtesy of the ITP Support Association)

Immune thrombocytopenia, usually known as ITP, is a bleeding disorder in which the body’s immune system destroys platelets in the blood. It can arise in anyone at any age with the risk of serious or fatal bleeding existing from the day the disease develops. Symptoms include nose bleeds, black mouth blisters, heavy periods, huge multi-colour bruises and, on rare occasions, spontaneous bleeding into major organs. There is no cure and treatments are not always successful.

Ignorance of this rare disease by the general public, and lack of knowledge in the wider medical community, impacts heavily on the lives of those with ITP. For adults, first they find none of their family or friends have ever heard of the condition and then the difficulties really start when they tell their employers they have been diagnosed with ITP. Some show sympathy but many view this unknown illness with suspicion thinking their employee is not going to pull their weight and could be at risk in the workplace. We recently heard of a young man whose employer terminated his apprenticeship because the company insurance would not cover him to use machinery.

For parents of children with ITP the situation is even worse. Schools range from those that wrap children in cotton wool and make them sit outside the head teacher’s office at playtimes as though they have been naughty, to those that fear they won’t be able to cope and exclude the child from school. Other parents, seeing the awful bruising so typical of ITP, often voice suspicion that the child is being abused, and those parents who know this bruised child has some unknown disease fear it is infectious. Yet, in reality the majority of adults and children are able to pursue a normal lifestyle albeit with avoidance of certain activities such as contact sports, and time off for regular hospital appointments.

Lack of awareness is also a problem for ITP patients in their interactions with health professionals outside the haematology or paediatric clinic.  Dentists are very reluctant to take on those with low platelets whether privately or on the NHS, and dental hospitals no longer seem to cater for people with bleeding disorders. Physiotherapists are concerned about causing the patient further bruising and GPs occasionally prescribe medications that are contraindicated for those with a bleeding disorder. Patients requiring surgery sometimes find that the surgeon and haematologist disagree about a safe level of platelets for the operation.  Because bleeding is a feature of ITP it is not surprising that sufferers occasionally have to visit A & E, and casual remarks by staff that they have never heard of ITP only adds to the anxiety of the patient.

The highlight of the ITP awareness activities was a different sort of ITP – an Invitation Tea Party in the Jubilee Room at the House of Commons hosted by Alistair Burt MP.  It was attended by a number of MPs including Stephen Timms and Yvette Cooper as well as most of the UK’s leading ITP clinicians and representatives from major pharmaceutical companies. Also present was Dr Mike Smith who played a pivotal role in the founding of the Association in 1995 when, as resident doctor on Radio 2’s Jimmy Young Programme, he read out founder Shirley Watson’s letter of intent to start a support group.

The ITP Support Association would like to record its thanks  to Alistair Burt for hosting this prestigious event and also to his wife Eve who did so much behind the scenes to make the House of Commons reception run smoothly and a day to remember.

For more information about ITP and the ITP Support Association visit www.itpsupport.org.uk, email or telephone 0844 7770 559.

Moebius syndrome awareness

A message from Tim Smith, President of the Many Faces of Moebius Syndrome: www.manyfacesofmoebiussyndrome.com

“For the second year in a row we are featuring a segment on our website and Facebook called "Moebius Syndrome Holiday Heroes". Each day from Nov 1st to January 24th (Moebius Syndrome Awareness Day) we will feature a new person with moebius syndrome as our moebius syndrome hero (mostly it is just children). We are reaching out to the health community and other communities asking them to help promote it. All we ask is for you to tell people by word of mouth what we are doing and in return we will feature your website and a link to it on the homepage of the “Many Faces” website.
The mission is to spread awareness and educate. Having the promoters on the page is more for the kids self worth than anything else. They can brag that they were a moebius syndrome holiday hero and that they had a hundred different groups promoting them. It might not seem like a lot, but it means a great deal to a special needs child who does not make friends easily and gets left out of a lot of stuff.
The Many Faces of Moebius Syndrome is a family website. We will not put any links on our website that are slightly controversial. So you don't have to worry about anything like that.”

Members’ events

Thyroid eye disease patient meeting

The next Patient Information Meeting for the Thyroid Eye Disease Charitable Trust (TEDct) will be held at:
The Bristol Eye Hospital on Saturday 17th March 2012 starting at 1pm (timing TBC). 
Further details to be confirmed. (please check the TED website - www.tedct.co.uk)
- Talks by eye specialists, thyroid specialists and patients
- Your Questions Answered
- Meet other people living with thyroid eye disease‚Ä®

TEDct is here to help you. TEDct aims to provide information, care and support to those affected by thyroid eye disease.

New members

We are delighted to welcome the following new organisations to RDUK:

Alveolar Capillary Dyplasia Association – this is a U.S based organisation which provides support to many families in the UK. The purpose of the ACDA is to gather and share information, provide a supportive environment to families and encourage research related to ACD.

Niemann Pick Research Foundation - The NPRF was established in 2011 to raise funds to spend on promoting UK trials of promising therapies for NPC and research in to the disease.  NPC is a rare, fatal, autosomal recessive lysosomal storage disease characterised by progressive neurodegeneration.  There are reported to be only 500 cases currently diagnosed worldwide of which approximately 80 are in the UK.

The Cure and Action for Tay-Sachs Foundation – CATS was created by the parents and friends of a little girl called Amelie who was diagnosed with Tay-Sachs in March 2011 at the age of 15 months to provide condition-specific support to others affected by the condition.

The Sickle Cell Society – the Society aims to raise awareness and educate individuals, carers and health professionals about the condition and provide support to those affected.  Their goal is to empower and assist people with sickle cell disorders to achieve their full economic and social potential.

South West Wales Neurological Alliance – this is a collaborative alliance consisting of people with neurological conditions, carers and representatives of neurological charities and support groups.

Alzheimer’s Society Tower Hamlets – this branch of the organisation provides support to those affected by Alzheimer’s, including rare forms of the condition.

RDUK Secretariat
Rare Disease UK
Unit 4D, Leroy House
436 Essex Road
N1 3QP