Update about rare diseases from Orphanet

BUS is a member of Orphanet. Orphanet is the European reference portal for information on rare diseases and orphan drugs, for all audiences. Orphanet’s aim is to help improve the diagnosis, care and treatment of patients with rare diseases.

As you know, Birdshot is a rare disease and sometimes, this makes it difficult to get the appropriate medication as it is not licensed for our disease. BUS is working with Rare Disease UK to try and get a ‘rare disease’ strategy implemented in the UK by 2013. With this in mind, BUS and Rare Disease UK met with Dr Edmund Jessop, who is the medical advisor to the part of the health service that looks after rare diseases and he is also the UK representative to the new European Committee of Experts on Rare Diseases (EUCERD). All these organisations are working hard to make sure that any rare disease strategy really addresses the needs of us as patients. The meeting with Dr Jessop was really productive, and he was impressed with the way that BUS, in partnership with the NHS, is tackling the issue of research and less toxic medication regimes.

You might be interested in reading the report from Orphanet – it is another step towards us (people with rare diseases) getting a better deal from the NHS!


“2011 was a satisfyingly busy year for the rare disease and orphan drug community which saw several major initiatives move forward efforts to understand, diagnose and treat rare diseases. Members of the European Union Committee of Experts on Rare Diseases (EUCERD) were grateful to play a pivotal role in several key areas, including participation in the International Rare Disease Research Consortium (IRDiRC), a recently-formed initiative that brings together international regulatory agency stakeholders, researchers, patient group representatives, members of the biopharmaceutical industry, and health professionals to harmonise, coordinate and accelerate research.

The EUCERD contributed several key documents this year, including the Recommendations on Quality Criteria for Centres of Expertise for Rare Diseases in Member States which guides European Union (EU) Member States (MS) in the development of centres of expertise, and the sweeping three-part 2011 Report on the State of the Art of Rare Diseases Activities in Europe. The EUCERD priorities also focused on issues relating to registries for rare diseases, health indicators, and reference networks. EUCERD has recently put several new reports online including the EUCERD/EMA Workshop Report of 4 October 2011 and the EUCERD 3rd Meeting Public report

National and European policy developments

On the political front, there were many noteworthy events this year. The International Rare Disease Day, created, organised and promoted by European rare disease patient umbrella group Eurordis, virtually exploded in 2011 with a frenzy of activity around the world. Held the last day of February, this year’s event was celebrated in 55 countries – up from 46 in 2010, 30 in 2009 and 18 the first year. Newcomers included Armenia, Iran, Mexico, Morocco, Nepal, Panama, Peru, Thailand, the United Arab Emirates, and Uruguay. The special day for rare disease patients, their families and all those who are involved in rare disease research, policies, treatment and care was the occasion for several significant actions.

At the European level, the long-awaited (and much debated) Cross-Border Healthcare Directive was adopted this year on Rare Disease Day, facilitating cooperation and improving equity in access to rare disease diagnostics and treatments throughout the European Union (EU). Also published on Rare Disease Day, the European Awareness of Rare Diseases Report presented the results of a Eurobarometer survey gauging the awareness for rare conditions as well as the level of public support for European-level measures. The survey, in the form of questionnaire, was undertaken in each of the 27 European Union Member States, with approximately 1000 citizens from each country participating, for a total of 26,574 interviews. While there were “significant differences” in awareness between the Member States, some “…95% of respondents believe there should be more European cooperation in this area and that rare disease patients should have the right to access appropriate care in another Member State”.

At the national level, Rare Disease Day was also the occasion for unveiling the Second French National Plan for Rare Diseases. Building on the achievements of France’s first National Plan for Rare Diseases – which as the first of its kind in the world, has become an international model – the second plan is streamlined to perform as efficiently as possible, with three central axes: Improving the quality of patient care; Developing rare disease research; and Expanding European and International cooperation. Other advances in the development of rare disease national strategies, which the Council Recommendation on an Action in the Field of Rare Diseases urges EU member States to accomplish by the end of 2013, include the issue of the final report Recommendations and Proposed Measures for a Belgian Plan for Rare Diseases, which was submitted to the Belgian Minister of Social Affairs and Public Health in October. Meanwhile, Austria, Poland, Serbia, Slovenia and Sweden have recently embarked upon the process of developing a national plan for their rare disease patients, and Switzerland is moving forward a project to develop a national strategy for reimbursing rare disease medicinal products.

Other key developments in Europe in 2011 include the launch of the EU Clinical Trials Register, allowing public access to information on any of the thousands of authorised clinical studies for medicinal products in the EU. Rare disease patient organisations and researchers campaigned for such a mechanism for years, in order to reduce duplication of effort and allow patients to see what progress is being made in their specific areas. The Clinical Trials Register provides information on clinical trials for medicinal products either with or without a marketing authorisation and offers access to information extracted from EudraCT – the database for all clinical trials commencing in the Community from 1 May 2004 onwards and only accessible to national drug agencies up to now.

Another triumph this year was the official recognition of clinical genetics as a specialty in the EU. Such recognition is critical both for the training of professionals and the organisation of related services. Only a few EU countries have not yet officially recognised clinical genetics as a specialty. The respective EC Regulation No 213/2011 amending Annexes II and V to Directive 2005/36/EC of the European Parliament and of the Council on the recognition of professional qualifications entered into force on 4 March 2011.

EMA, orphan drugs, and the biopharmaceutical industry

In the area of orphan drugs, the Committee for Orphan Medicinal Products of the European Medicines Agency issued 111 positive opinions for orphan designation. In 2011, 97 orphan designations have to date been granted by the Commission. Five orphan drug products received marketing authorisation in 2011. Also, the EMA this year issued its first positive opinion specifically for a paediatric marketing authorisation. The EMA also geared up a process in 2011 that would make prevalence figures for rare disease products transparent.

There were also positive actions on the part of industry, with several of the “big pharma” companies taking an active interest in orphan medicinal products and adding to their portfolio strategies. Meanwhile, many innovative advances were also seen from the cutting-edge small and medium-sized enterprise sector. The increasing involvement on the part of the biopharmaceutical industry is exciting news for academic researchers, health professionals, and patients.

Orphanet in on the action

In 2011, the Orphanet Joint Action launched the rare disease and orphan drug information portal into a new dimension. This instrument, which combines funding from the European Commission with each of the participating Member States, as well as from Switzerland, a collaborating partner, permits Orphanet to improve its offer in the EU and beyond. Another exciting development for Orphanet in 2011 was a partnership developed with Canada, extending Orphanet across the Atlantic for the first time. Negotiations are also ongoing with Japanese and Chinese stakeholders to explore the possibility of launching Orphanet into Asia, as well as with Brazil and Australia.

Other advancements in which Orphanet participated include its ongoing work with the Topic Advisory Group (TAG) for Rare Diseases for the World Health Organization, in the revision of the International Classification of Diseases, to produce its eleventh version (ICD-11). The main purpose of the TAG for Rare Diseases is to enhance the visibility of rare diseases in information systems using the ICD – notably for patient coding. Rare diseases have now been included in almost all the chapters of the ICD in preparation.

2011 rare disease funding opportunities

In July 2011, the European Commission released the content of its new call for proposals, which opened several opportunities for rare diseases. Other funding resources for rare diseases include E-Rare, the ERA-Net on rare diseases, supported by the European Commission ERA-Net scheme under the Seventh Framework Programme. This network of sixteen partners – public bodies, ministries and research funding organisations – from twelve countries announced the results of its third Joint Transnational Call in late 2011. Funding bodies from nine countries joined this call. Thirteen consortia were selected for funding. The rare disease areas of the chosen projects include haematology, metabolic diseases, neurology, dermatology, and congenital malformations. Therapeutic approaches include pluripotent stem cells, gene therapy vectors and customised animal models. There were also many calls for proposals in 2011 in specific rare disease areas and at the national level, such as the notable triumph for France with the funding of the Paris-based Imagine Institute of Genetic Diseases via the French government’s University Hospital Institute (UHI) scheme. The Imagine project focuses on understanding the mechanisms involved in genetic diseases and seeks to accelerate the development of new diagnostic and therapeutic solutions.

A critical issue that arose in 2011 and needs further consideration is how to meet the need for sustainable funding for European rare disease networks, which are typically funded for a three- to five-year period. Several ideas are under discussion on how to accomplish this.

The rare disease community can indeed be hopeful and triumphant looking back on all that has been achieved this year. Wishing all its readers a peaceful end of year, OrphaNews Europe looks forward to an equally exciting 2012.


Possible increased risk of opportune infection

BUS did not think that the results of this study were really that surprising, given the fact that immuno-suppressants suppress the immune system it is likely that you may suffer from infections of various sorts, whether it is cystitis, sinusitis, colds or flu or something more serious like cytomegalovirus colitis and viremia.

The following paper entitled “Cytomegalovirus colitis and viremia from mycophenolate mofetil monotherapy in birdshot chorioretinopathy” was published in Ocul. Immunol. Inflamm. 2011 Dec; vol. 19(6) pp. 450-2.

Author: Pantanelli SM, Khalifa YM

The paper describes a case of cytomegalovirus (CMV) viremia and colitis in a patient on mycophenolate mofetil (MMF) monotherapy for birdshot chorioretinopathy. It showed that treatment with MMF 1.5 g twice daily for 5 years led to leucopenia and a CD4 count of 299, which resulted in active CMV infection.

The papers conclusion was that treatment with MMF alone may put otherwise immune-competent individuals at risk for opportunistic CMV infection. It is hope that awareness of this possible association may allow for better monitoring, earlier detection, and treatment in future cases.

PMID: 22106917

URL – http://www.ncbi.nlm.nih.gov/pubmed/22106917?dopt=Citation

Birdshot local meeting in Market Rasen

The 1st Birdshot local meeting in the Lincolnshire area is going to take place on Saturday 11th February.    Market Rasen is a small market town on the edge of the Lincolnshire Wolds.  The town lies on the main road between Lincoln and Grimsby, the A46.   The informal meet-up is going to be held at the Red Lion from midday,  and will give people with Birdshot the opportunity to meet others with the condition in their local area.

We know of at least 4 members attending so far, and if anyone else with Birdshot lives close by and would like to link up with this group, please let SueB know on sue@birdshot. org. uk or email BUS on our usual email address and we will be pleased to pass on your details to SueB who is organising this meet-up in Lincolnshire.

This is a great local initiative and we are delighted that Sue has managed to organise this for BUS.

Join BUS and Fight for Sight on the “Carrot Walk” and raise funds for Birdshot Research


Fight For Sight (FFS) is a large charity that funds research into eye diseases. They have often concentrated on eye diseases that affect a large number of people. However, they are now looking at how they can help fund-raise for rare diseases and small charities.

FFS have offered us a place on the programme they are developing for small charities and rare diseases, subject to us finding enough volunteers to qualify.

Here is how it will work: FFS has set up a 15 mile London Nightwalk on 21 September, 2012, starting at 11 pm.  If BUS can find 30 people who are willing to pay £25 each to participate in the 15 mile night walk, and are willing to find sponsors for their walk (each person needs to be sponsored for at least £150), then all the money these people raise will be banked with FFS specifically for research into Birdshot.  This means that, if we manage to get our biobank set up, then researchers who want to use the biobank samples for research into Birdshot can apply to FFS for a small grant to fund the staff and other equipment for that research.  Exciting!!!

Before we can accept this offer, we need to be sure that we can find 30 people.  We are approaching all our members and all ‘Team Birdshot’ (which includes consultants, nurses, low vision experts, etc) to see if we can find the 30 people.

Could you let us know as quickly as possible whether you want to/are interested in undertaking this 15 mile London night walk?  FFS is expecting a very big turn out for this event, and we would really like to participate if at all possible.  21st September is a Friday night, so we could have the week-end to recover!  We might have to wear some silly clothes for the walk – maybe we can all go dressed as birds!

Please, please let us know as quickly as possible whether you want to be involved in this, so we can get back to Fight For Sight.



Birdshot Uveitis Society – Registered No: 1145349

Dear All,

We are delighted to be able to inform you that we received confirmation of our registered charitable status today. Up until now we have been part of the Uveitis Information Group. The UIG is registered in Scotland and is in the process of becoming Uveitis Information Group (Scotland) and concentrating on its work within Scotland.

Birdshot Uveitis Society is now registered in England and Wales.

We will continue to work closely with the UIG scottish charity and also link where appropriate with Olivia’s Vision which many of you will already know is a new uveitis charity registered in England and Wales, and set up by a parent of a child who has uveitis. It is worth pointing out that Olivia’s Vision supports all types of uveitis – not just uveitis in children and fundraises to help increase the number of uveitis specialists. You can find our more about Olivia’s Vision on their website.

Our registration number is: Birdshot Uveitis Society – Registered No: 1145349.

We will be making changes to our website and information leaflet to reflect this change.

Kind regards



Birdshot Uveitis Society

Artists at Birdshot Day 2010 and 2012

Jenny Wright attended the first Birdshot Day in 2010 where she ran a small art workshop where anyone could draw what they thought it was like looking through Birdshot Eyes. Jenny has since  published the attached paper which describes what she found out.

We thought that members of BUS  might like to have the opportunity to read  this and think about how you might depict what is going on in your eyes, as a way of keeping a record, or explaining your vision problems to your ophthalmologist.

This is how Jenny describes it:

The paper explains the remit and outcomes of the drawing workshop at the Birdshot Patients Day in London, and includes some of the images that were produced.  As well as expressing what was going on in a patients eye,  it was also useful for medical students and other professionals to have a closer dialogue with those directly affected by Birdshot and helped them to understand the disease process and symptoms.”

The paper has been presented to a number of audiences and the drawings have been exhibited.  Jenny has quietly been helping us to get Birdshot Uveitis better known through this more unusual approach.

Jenny is running a similar workshop at the next Birdshot Day on Saturday 3rd March 2012 and she would love to see images of how you see.  So don’t be surprised if she asks you to sit down and make a drawing.  You don’t need to worry – you don’t have to have any drawing expertise or experience, and it might provide a little light relief to the days other activities.

Painter Susan Piper is also going to be exhibiting some of her paintings which have been inspired by medical images of  her own birdshot eyes.  We hope to have more about this in a later news item.





Important Note re Grange St Paul’s Hotel Concession

A number of people have been asking about the accommodation offer at the Grange St Paul’s Hotel for the Birdshot Day and there are two things that we need to clarify:

The rate quoted of £109 plus VAT is per room, whether for single or double occupancy.

If you are interested in staying there on either Friday 2nd, Saturday 3rd or Sunday 4th nights, please do not delay in making your booking.  We have only so many rooms allocated to us, and  you must book a room before Sunday 5th February to be guaranteed this rate.  Please  contact reservations and quote “Birdshot Day” when you make the booking.  The contact details for the hotel are:

10 Godliman Street
London EC4V 5AJ
Tel: +44 (0) 20 7074 1000
Fax: +44 (0) 20 7074 1100

HLA-A29 and Birdshot Chorioretinopathy

The link between HLA- A29 and Birdshot Chorioretinopathy is one that interests many people and the paper published by:  Brézin AP, Monnet D, Cohen JH, Levinson RD, on this subject asks the question:

Why do people of European descent tend to get Birdshot, whilst other ethnic groups who also carry the HLA A29 antigen do not?

The paper explains that there are two different subtypes of HLA29A:- HLA29:02 is most frequent in caucasians, whilst HLA29:01 is most frequent in Asians.

It used to be thought that the disease only appeared in people with the HLA-A29:02 version of the antigen.  The paper tells us that is no longer a valid argument.   It suggests that another factor, probably not HLA linked, is either protective in Asians and in Africans or, alternatively, triggers an autoimmune reactivity that is possibly present in Caucasians of european descent and absent in Asians and in Africans.

We might start to make progress if scientists can find the answer to what this might be.

We are trying to get hold of the full research paper so that we can review it in detail.


Concessionary overnight rate at Grange St Paul’s Hotel for Birdshot Day

The Grange St Paul’s Hotel have kindly offered us a concessionary rate on the 2nd, 3rd and 4th of March 2012 of £109 plus VAT including a continental breakfast (per night) single or double occupancy.  Please book before the 5th February to be sure of getting this rate.  Please quote “Birdshot Day” when ringing up the hotel reservations department on 02 7074 1000.

This means that if you fancy a weekend break or a night in London at a luxury 5 star hotel, as part of your Birdshot Day experience, there is fabulous accommodation available at  very reasonable rates for central London.

Please do get in touch with us for details of who you should contact about this.

Thank you Grange Hotels !

Happy Christmas everyone!

Annie and Rea