The First Lady of Georgia Mrs Sandra Elisabeth Roelofs opened the conference in a very engaging manner: “All together we can make a difference for the ones who suffer from rare diseases” “The diseases are called rare because each disease affects few patients but all together rare disease patients represent a lot of people” “Rare diseases are not just about health and medical issues, they are also about the education and social issues and human rights issues looking around the corner at people living with rare diseases” “”Georgia is a modern reforming country. A country of opportunities. You expect the impossible in Georgia. The Health care system is being reformed as in many countries and as elsewhere it is never easy as healthcare is always an issue in most countries. Georgia is a country with problems. 50% of our population is poor. And every person deserves the right to have access to quality care even poor people with rare diseases. We still have a job to do”.

Mrs Roelofs is the First Lady of Georgia since 2004 when her husband Mikheil Saakashvili assumed the presidency. Mrs Roelofs is 43 yrs old and has two sons. She is Dutch and speaks French, English, German, Russian, and Georgian.  She graduated from the Institute of Foreign Languages in Brussels and the International Institute of Human Rights in Strasbourg. She met Mikheil Saakashvili in 1993 while attending a course on human rights in Strasbourg and later that year moved to New York where she worked at Columbia University and a Dutch law firm. In 1996 the couple came to Georgia, where Mrs Roelofs worked for the International Committee of the Red Cross and the Consulate of the Kingdom of the Netherlands in Tbilisi. In 1998 Roelofs founded the charity foundation SOCO which has the primary focus of implementing the programs funded by Western European and Georgian companies and individuals and is aimed at supporting low income families. Since setting new targets in 2007, SOCO has been actively taking care of reproductive health and child welfare in Georgia. In 2007 Mrs. Roelofs founded Radio Muza, the first Georgian radio dedicated solely to classical music.

Mrs Roelofs further explain how she became involved in rare diseases ” My involvement in health started with palliative care, thereafter HIV/AIDS, reproductive health, children and maternal health” “I became a WHO Goodwill Ambassador specially focusing on the Millenium Development Goals in the area of child and maternal health” “In SOCO we have established an alliance for rare diseases. We have established an office providing information to patients on diseases, diagnosis and care as well as lobbying the government, industry and stakeholders to take action for rare diseases” “Few years ago there was not much going on rare diseases in Georgia except few isolated patient organisations and healthcare professionals” “I am happy to use my title and name to improve the situation of people living with rare diseases in Georgia”.

Mrs Roelofs concluded with thee words “With a combination of creativity and enthusiasm we can get unexpected results” “I will see many of you on 29th February in Brussels for the Gala Dinner organised by EURORDIS on Rare Disease Day, an important event to raise funds and to promote the cause of people living with rare diseases. I can help get other influential people to come and speak at the conference”. “For rare diseases we are not talking about Europe only but globally”.

The 1st US Conference on Rare Diseases and Orphan Products, co-organised by NORD (National Organization for Rare Disorders, USA) and the DIA (Drug Information Association), took place in Washington DC from 11 – 13 October 2011. Organised in partnership with the FDA, NIH and EURORDIS, this first conference was a huge success, assembling over 250 attendees who benefitted from discussions on drug development, de-risking investments, challenges in patients’ access, changes in the orphan landscape, the FDA and NIH processes, the US health care reform, changes in insurance reimbursement, off-label issues and compassionate allowance.

Separate tracks for patient advocates and organisations, researchers/drug and device companies, and investors were proposed. A stellar lineup of speakers, including NIH Director, Francis S. Collins, and Social Security Administration Commissioner, Michael J. Astrue, contributed to its impact and importance.

The second event in this new transatlantic series will be the 6th European Conference on Rare Diseases and Orphan Products (ECRD 2012 Brussels) taking place in Brussels, Belgium from 23 – 25 May 2012. Co-organised with the DIA Europe and NORD, this foremost conference on rare diseases will bring together all stakeholders in the European rare disease community at a crucial juncture.

The value of this trans-Atlantic series of conferences with patient-driven agenda partnering with regulators, policy makers, healthcare managers, industry, investors, academic leader is already tangible. Back from Washington, I see three strong points:

• The converging calls by NORD and EURORDIS for an official policy of flexibility by drug regulatory and health technology agencies for rare diseases and orphan drugs. Francis Collins, NIH, highlight the huge current scientific potential to develop innovative approaches to treat or cure rare diseases. This analysis is shared by Ruxandra Draglia-Akli, Director for Health Research at the European Commission, who initiated the International Rare Disease Research Consortium with the ambitious goal of 200 new therapies for rare diseases by 2020. But the pathway is narrow and obstacles many between development between orphan designation and approval, called the Death Valley. A key leverage to activate is the way regulations are implemented on both side of the Atlantic. Experience shows that the European Medicines Agency (EMA) has a well established track record of flexibility with half of the 70 orphan drugs being approved based on conventional study design and also half being approved at the end of Phase 2. EMA has even adopted few years ago an Official Guideline on Alternative Study Design on Small Populations. An analysis prepared by NORD and FDA and first presented at the Washngton’s Conference on 25 years of experience  shows that out of 135 non-cancer orphan therapies approved for new chemical entities, 45 were “conventional studies”, 32 “administrative flexibility”, 58 “case by case flexibility”. NORD wants that FDA adopt an official policy of flexibility for orphan drugs as FDA did in the past for HIV and Cancer. EURORDIS is considering calling for similar offcial policy of flexibility for orphan drugs by the EMA ( providing opinions) and European Commission (DG SanCo providing decisions). Such official policy of flexibility by the main regulatory authorities for orphan drugs in the world would be particularly relevant and consistant with the objectives 200 new therapies by 2020 of the International Consortium strongly supported by the EU European Commission, US NIH as well as Canada, Japan and others. Although, if these two policies were to be parallel it will not be sufficient : hence my strong call on behalf of EURORDIS at the US Conference for a much closer and real collaboration between FDA and EMA. This transatlantic collaboration works effectively at the stage of the orphan designation, it is exemplary and good but not enough. Collaboration needs now to exist for protocal assistance so to agree on best and most realistic international study design so to generate faster better data for the risk & benefit assessment. We need a rolling-on joint protocol assistance dedicated to orphan drugs, both knowledgeable about the reality of rare diseases and flexible in its regulatory

• The US Health Care Reform, the USA are confronted with the emergence of health technology assessment and its impact on orphan drugs. Considerations for the need to assess the effectiveness and comparative/relative effectiveness are growing ; In this regards, EU is much more advanced on this debate. The concepts are already clarified and approved as well as core methodology for the assessment. New approaches such as the scientifc assesssment of the Clinical Added Value of Orphan Drug, conditional pricing and reimbursement, and policy of pricing and reimbursement based on data generated are mature policies well on track for implementation. In the fielf of orphan drugs, these new policies are triggered by the dialogue between EURORDIS, industry, EU Member Sttaes autorities and European Commission. NORD has announced in the concluding panel of the Washington’ Conference that it will now look at these new approaches as policies transferable to the USA. Pivotal between the regulatory procedures and the health technology assessment : the marketing autorisation. Here too, new approaches are emerging, from industry and GSK in particular, calling for « Progressive Marketing Approval » one more bridge to link up between data generated for clinical trials and real life use. In all cases, post-marketing obligations or evidence generation plan to generate data on effectiveness, would gain from closer closer collaboration – here too – to generate post marketing evidence on risk, benefits and effectiveness fater with better quality data and increased statistical power. Both previous themes are connected to need to put in place international rare disease registries supporting pre-approval and post-approval research activities.

• The potential for actual coordination on rare disease registries. In EU several projects are complementing each other to shape policy scenario based on best practices and public health needs (such as the EpiRare project) and to build EU-wide infrastructure for databases, biobanks and registries (recent FP7 Call). This is linked to the Working Group on Registries and Biobanks of the International Consortium which will define common international policies such as minimum data set, standard operating procedures, interoperability, etc. The NIH is supporting similar analysis, exchange of best practices, library of resources on registries. We are not yet there, but almost there. With goodwill on all sides, real resource saving and life saving convergences are at our door step.

Related links:
Updates from the conference (courtesy of NORD): http://rarediseases.org/patients-and-families/patient-meetings/dia-nord-oct-2011
Images from the conference (courtesy of NORD): http://rarediseases.org/news-events/news/2011-summit

No European policy is possible without a simple, clear strategy, accepted by most interest parties, and with adequate governance. This is what the EU has provided for its most successful policies such as on energy and common markets. And this is what we have now for rare diseases.

We have a clear strategy and objectives spelled out in several policies and legislations. We have the support of the European Commission, the European Council and the European Parliament. We have governing bodies within the EC, with the EU Committee of Experts on Rare Diseases (EUCERD) and at the European Medicines Agency (EMA), with the Committee on Orphan Medicinal Products (COMP). We have international ambition with the International Consortium on Rare Disease Research.

We have structured our action around civil society – with EURORDIS- and around quality medical information – with ORPHANET. In the coming years we will have structured European Reference Networks of Rare Diseases gathering experts, centres and diagnostic labs, and we will have EU wide infrastructures for clinical trials, biological resources and registries.

Our common challenge is now to agree on common good practices and to monitor our achievements. To achieve these goals, we need continued political support – which we can contribute to stimulate through awareness and advocacy – and more resources, which means more budget for the 2014-2020 EU Programmes, in particular for research and public health.

Concrete and worthwhile actions speak to EU citizens. Actions in the field of rare diseases are an example of the need and the usefulness of more Europe today!

Rare diseases affect 3.5m people in the UK (see http://www.raredisease.org.uk/). If you include their family members (approximately four people per nuclear family), that means 14 million people have direct experience of a family member living with a rare disease. I’ll repeat that:

14 million people.

The total UK population is just under 60 million people. This means that 25% of the UK population has direct experience of a close family member living with a rare disease.

That’s one in four.

If you include grand parents, children, close cousins and close friends, the figure climbs higher, maybe even to half the UK population, or even more.

So why is there no mass movement? Where are the millions of mums, dads, brothers, sisters, sons and daughters, cousins, friends, colleagues, grand-mothers and grand-fathers of people with rare diseases? Why aren’t they on the streets, shouting about the injustices faced by their suffering family members and friends?

Maybe they’re too tired and exhausted from caring for them? Maybe they’re discouraged and don’t believe they can make a difference? Or maybe they think the disease is too rare, so why should anybody care?

I’ve often told people that my two boys have a rare disease (Alkaptonuria, or Black Bone Disease). Generally, people are sympathetic. I can see their sorry faces. ‘That’s a shame. I’m glad that’s not me,’ I can hear them think.

Others are more hostile. One family friend once said, ‘Who cares about your kids’ rare disease. There are more important things to worry about in the world.’

Unfortunately, I believe his reaction is common – it’s just that most people won’t say it out loud. The term ‘rare disease’ doesn’t work well as a way of raising awareness and generating support. When faced with the evil of cancer or the suddenness of heart disease, rare diseases seem more like a curiosity, something that isn’t widespread and that isn’t relevant to most people. There’s always an uphill struggle to explaining that rare diseases are common. But even then, most people don’t feel all that concerned.

So should we rebrand rare diseases? Should we find a term that challenges people? That makes them feel directly concerned? That makes them feel like they need to take action urgently?

This is a tough one. And I don’t pretend to have a solution. That’s why I’m writing this blog post – to generate some thinking. Last night, our brainstorm, which included a global branding expert, the head of a growing rare disease foundation, and the director of digital media in a major health foundation, looked at the options:

• Rare diseases: an accurate description, but makes people think that it doesn’t affect them. It reduces engagement.
• Orphan diseases: symbolic, but creates confusion in the public’s mind: could be diseases affecting orphans in Africa.
• Genetic diseases: could work, although few members of the public understand the term ‘genetics’. Sounds technical, scientific. Also, some genetic diseases are not rare diseases.
• Extreme diseases: captures the imagination and makes you wonder what it’s about. Many rare diseases do present themselves as extreme versions of common diseases (Alkaptonuria is an extreme form of osteoarthritis).  But this term can sound too sensationalist. And many common diseases are also extreme in their manifestations.
• Inherited diseases: easier to understand for the average member of the public. Everyone knows about inheritance. It engages them, makes them think ‘could I have an inherited disease?’. But some rare diseases aren’t inherited, and some common diseases have inheritance factors.

I’d love to hear what others think. In the end, maybe we should stick to the term rare diseases. Maybe we should accept that it’s not perfect, but that it’s the best we have at the moment. Or maybe there’s a better way out there? A way that will immediately grab the public’s attention, make them realise we need to take action, and kickstart a mass movement on a scale we’ve never seen before.

Email me on nick@akusociety.org if you’d like to discuss this further.

I went home last night and was lying in bed thinking about it, unable to sleep. The conversation had awakened in me a deep sense of injustice. How are we ever going to help the 8% of the population that has one of the 7,000 known rare diseases if most of the major funders still don’t see it as a priority?

It’s not the first time this has happened. Let me give you another example. A few months ago we applied to another major funder. Our application was so strong, our publications list so impressive, that we got selected out of 1,400 applications to go through two rounds of internal reviews, received glowing peer reviews, and got to the final assessment panel. Yet the questions of the panel showed that they had barely read the proposal and had no understanding of why studying rare diseases is so important.

I believe there are two key problems here:

1. Most funders – at least in the UK – are still stuck in the old numbers game. Cancer or heart disease, they say, are the biggest killers. Hence they invest in these areas.
2. The majority of funders have deeply flawed assessment processes. They don’t know how to select good applications. And I believe that’s a big reason why so much scientific research fails.

So what are the solutions? Here are my recommendations:

1. We need to build a mass movement for rare diseases. The other day I was walking through Cambridge and saw hundreds of women dressed in pink for Cancer Research UK’s Race for Life event. It’s the biggest women-only charity fundraising event in the UK, raising millions for Cancer Research UK and helping put cancer high on the public and political agenda.

We need a similar mass movement for rare diseases. It’s the only way of convincing the public, the politicians, the funders and the health system that the millions of people with rare diseases really count.

2. We need to show how studying rare diseases has wider implications. William Bateson, the famous Cambridge geneticist who died in 1926, once said ‘treasure your exceptions’. Bateson was a friend of Sir Archibald Garrod, who first identified Alkaptonuria as an inborn error of metabolism in 1901. Both Bateson and Garrod knew that the study of rare diseases – the ‘exceptions’ – was a golden gateway to understanding common diseases. More than 100 years later, our Alkaptonuria scientists in Liverpool are discovering that Alkaptonuria is an excellent model for understanding osteoarthritis – a very common disease – proving that Bateson was right.

3. We need to reform how traditional funders work. Traditional funding processes are often just form-filling exercises: if you tick the right boxes, lobby the right people and know how to fill in the form correctly, then you may get funded. Most traditional funders then provide grants for one to three years, forcing scientists to spend their time scrambling around for more funds rather than focusing on scientific research.

Traditional funders miss out the most important criterion in the success of any project: the strength and track record of the research team. And the only way to assess a team is by spending time with them – lots of time.

Fortunately, there is an answer to this. It’s called venture philanthropy. It’s based on how venture capitalists choose companies to invest in. They spend a lot of time on their due diligence: meeting the team, assessing their track record, discussing their strategy. And once they’ve found a team of A-players, they support it over a long period of time. Not a one or even a three year grant, but sometimes up to 10 years or more. Venture philanthropists know that persistence and commitment pays off.

That’s what we’ve done with the AKU Society. We’ve raised £1m in donations from private sources, and we’ve invested all of it in an amazing research team in Liverpool, going from the most basic to the most clinical science. Over the past eight years, we’ve developed a symbiotic relationship with them, where we all work together for the same objective: finding a cure to Alkaptonuria.

If you want to find out more about venture philanthropy, check out the European Venture Philanthropy Association: http://evpa.eu.com.

4. We need independent funders dedicated to rare diseases. There’s an urgent need for a major foundation dedicated exclusively to funding research into rare diseases and supporting rare disease patient groups. We need something as ambitious as Cancer Research UK, which raises £0.5bn each year from the public for cancer. We need a Rare Disease Foundation that will support any rare disease – not just a small subset or those of its founders – over long time periods, using a venture philanthropy model, and with a focus on finding cures. It needs to be independent and free from political or corporate influence. It needs to exist for patients and only for them.

5. We need to support existing international initiatives on rare diseases and use these to lobby our national governments. Thanks to the work of groups such as Eurordis and NORD, the European Commission and the National Institutes of Health are leaders in supporting rare disease research. For instance, the EC’s FP7 health call that was announced this week has strong support for rare diseases. The International Rare Disease Research Consortium launched recently is another excellent initiative. However, compared to the scale of the need – the 7,000 rare diseases, most of which have no cure – it’s still a drop in the ocean. That’s why we need to build on these initiatives to get our national governments and funders to take action.

So that’s my five point plan. If you’re interested in discussing this further, do get in touch. My email is nick@akusociety.org or visit the AKU Guide for Rare Disease Patient Groups: http://akurarediseaseguide.wordpress.com.

This is an important topic for everyone in the rare disease community.  NORD President and CEO Peter L. Saltonstall submitted the following  comments as a Letter to the Editor of JAMA:

To The Editor, Journal of the American Medical Association:

The article “Characteristics of Clinical Trials to Support Approval of Orphan vs Nonorphan Drugs for Cancer” by Kesselheim et al  (JAMA. 2011;305(22):2320-2326. doi: 10.1001/jama.2011.769) presents the predictable finding that pivotal trials for orphan cancer drugs often have fewer patients and use different trial designs than trials for drugs for more prevalent cancers.  Rare diseases by definition have small patient populations; trials in such populations will commonly have fewer patients than those for more prevalent diseases.  Recruitment of participants for such studies is challenging, and trials of new agents for orphan diseases may, of necessity, be non-randomized and open label.

The article asserts that “safety and efficacy questions have emerged about some of these agents” and offers examples of one orphan drug being removed from the market for safety reasons in the U.S., and two orphan drugs not being reimbursed in the U.K., largely due to high cost. However, we are not aware of a higher rate of safety and efficacy questions for orphan products than for drugs for more common diseases, and the article offers no support for questioning the safety or effectiveness record of orphan drugs.

The rare disease patient community is thankful that the Food and Drug Administration (FDA) and other regulatory agencies recognize the special challenges posed in testing orphan drugs.  FDA has shown flexibility in accepting protocols for pivotal trials of orphan drugs, while maintaining its traditionally high standard that all drugs must be proven safe and effective for their intended populations.  Furthermore, the law places responsibility on manufacturers to report signals of risk associated with all approved drugs; manufacturers of orphan drugs are required to abide by that requirement just like manufacturers of other drugs.

There are still more than 6,000 rare diseases with no approved medications at all.  These diseases affect as many as 30 million Americans.  Most of these diseases are chronic, life-threatening or lifespan-reducing.  More than half of the patients are infants or children. There is a continuing and critical imperative for innovation to find treatments for patients with rare diseases, while assuring that these treatments are effective  and safe for the target populations.

We who advocate for patients with rare diseases believe that more resources are needed to support innovative research. The medical and regulatory communities understand the special challenges inherent in developing treatments for rare diseases. They must also recognize the need for flexibility in clinical trial design and the fact that patients with such disorders are willing to accept reasonable risk in return for hope of effective treatment.

Sincerely,

Peter L. Saltonstall

President and CEO, National Organization for Rare Disorders (NORD)

Venue: Antalya, Turkey

TIF’s largest and longest-established international event for medical professionals, scientists, patients and parents is the biennial International Conferences on Thalassaemia & Haemoglobinopathies, organised jointly with the TIF International Thalassaemia Patients/Parents’ Conference, which attracts hundreds of delegates from all corners of the world. TIF has had impressive results over the years with regards to the impact these conferences have had on awareness and education of both health professionals, patients and parents.

The upcoming 12^th International Conference on Thalassaemia and Hemoglobinopathies and the 14^th TIF International Conference for Patients and Parents will take place next year 2011 in Antalya, Turkey. This event, combining two simultaneous conferences, aims to provide the latest scientific and medical updates to both health professionals and patients and their families and to promote the forum for the exchange of knowledge and experiences. Above all and very importantly, these conferences serve as great opportunity to built up new and strengthening existing  relations and collaborations. By working together, patients and experts, individuals and organizations, can all achieve their common aim: the best possible quality of care for every patient with thalassaemia wherever in the world he or she may live.

For the first time in our history of international conferences, this event will present experts patients as key speakers, reflecting the active role patients are given in educational activities of TIF.

TIF INVITES YOU TO ATTEND THESE CONFERENCES, which, in addition to the high level scientific calibre of their participants, will offer unique hospitality in the most pleasant environment and weather of Antalya, in Turkey.

Visit the Conference website at www.tif2011.org

Visit TIF’s website at http://www.thalassaemia.org.cy

We are here to assist and answer any queries you may have. We would love to see you there!

No doubt, the EU Cross-Border Health Care Directive is a new important legislation to improve quality and access to health services for patients!
This policy lays down the basis of the future organisation of healthcare services in the European Union and grant new rights to patients to take advantage of being European citizens. When we will look back, five or ten years from now, this legislation will also appear as a building block for rare diseases. However be aware that the limit of its full impact for people living with rare diseases may emerge from the potential gaps between the principles set forth in this EU legislation and the national legislations to transpose it in Member states.

While the Directive applies broadly to health and all diseases in general, it recognise rare diseases for its specificities (rarity of expertise, rarity of patients, limited knowledge and therapeutic interventions) requiring specific measures to organise and disseminate this expertise at the European level – through the European Reference Network – and to support easier patient mobility across EU to access quality diagnosis and care, when needed. These new avenues are extremely important for the coming years and for the long term.
In addition, Member States have now an official role in orientating patients to adequate services. When wanting to go in another Member States, in particular to access diagnostic expertise, this access could not be anymore denied and at minimum the Member States will have to justify why. These provisions are shifting the rights to the patient side, creating better transparency in the case by case decision making process for access to and reimbursement of health services – even if turning this policy into a day to day reality for patients will take years. Also, this create a new situation which will put pressure on the Member States, hence inviting them to engage them more into taking measures to raise the level of their health services at national and regional levels where the patients live and want to be treated.

After the EU Regulations on Orphan Drugs (1999), on Paediatric Use of Medicines (2006), on Advanced Therapies (2007) and more recently the Commission Communication (2008) and the Council Recommendation on Rare Diseases (2009), this EU Directive on Cross Border Health Care consacres rare diseases as a public health priority in its Article 13. In itself, this is a higher recognition for people living with rare diseases: an EU Directive is at the highest legislative level, right below an EU Regulation but right above a Council Recommendation, hence it is more binding for Member States.

Last six years, EURORDIS has navigated through and contributed regularly all along the very long and complex decision making process of this EU Directive. Two past versions have been rejected by the Council mostly because some Member States were afraid that this legislation will stimulate an important flow of patients seeking better or quicker diagnosis and care in another Member States at risk of higher costs for the healthcare payers in their country of origin. This latest version of the Directive has been negotiated carefully, through high level political procedures involving the Commission, the European Parliament and the Council.
We can reassure you, that in this process we have been involved regularly and appropriately, so that the voice of people living with rare diseases has beeen heard. Some time advocacy requires speaking with a strong voice and media attention, in case like this one, it requires fine jewellery art for which the raw material is legitimacy and credibility. When needed, we worked closely with the relevant national rare disease alliances and that was a very rewarding experience.
As always, it is not our “dream text”, hardly good, but a realistic compromise for new gains. The European Parliament adopted it on January 19. The Council should adopt it in April.
Through that long process with several failures, EURORDIS and all supporting policy makers have taken advantage the political situation to make surface the specific case of rare diseases which concentrate all the questions of the added value of a European approach to the organisation of scarce expertise to provide high level health services requiring mobility both of expertise and patients.

However, a the next challenge is already ahead of us: patients and families living with rare diseases will really take advantage of its full potential only if all stakeholders and policy makers are taking a firm grasp on the national policy process during the upcoming 30 months for the transposition in the national legislation, health policy and organisation. And this is when this Directive requires a good understanding and appropriate actions by the national alliances, patient groups, medical experts, hospital policy makers and managers, health care budget policy makers and managers. EURORDIS will support that process and we will engage the EU Committee of Experts on Rare Diseases as well as the future Joint Actions on Rare Diseases, Joint Action on HTA and (possibly) Joint Action on Cross Border Health Care so to make concrete and detailed recommendations on how to transpose this Directive in national legislations and policies as well as how to monitor its implementation to measure its impact.

A few years ago I finished my PhD in social movement studies, a sub-group of sociology that studies why social movements rise and fall. My PhD was on the 2005 Make Poverty History campaign, directly supported by more than 15 million people and 550 NGOs in the UK who were asking the G8 for major action to end global poverty. I then turned this into a book called ‘Make Poverty History: Political Communication in Action’ (Palgrave Macmillan 2009).

Based on this, let me explain how I think that social movement theory can be used to explain the rare disease movement, comparing in particular France, where it is highly active, and the UK, which is working hard to catch up.

There are four major schools of thought in social movement theory:
1. Resource mobilisation: this theory explains that the driving force behind the success or failure of a social movement is its access to resources (money, skills, people). For instance, the global poverty NGO movement in the UK is one of the strongest in the world in large part because it has managed to mobilise millions of pounds in funding from the public and professionalise its NGOs. Similarly, thanks to the impressive work of the AFM/Telethon, the Alliance des Maladies Rares and Orphanet, among others, the rare disease movement in France is surging ahead.

The rare disease movement in the UK, however, is still lagging. We’re fragmented, with no major fundraising campaign on the same scale as the Telethon. While Rare Diseases UK is a national alliance lobbying politically for a national plan on rare diseases, the UK doesn’t have an organisation devoted exclusively to helping rare disease patient groups in the same way that France does with the Alliance des Maladies Rares.

Hence, I would argue that a prerequisite for building a successful rare disease movement is to launch initiatives to gather significant resources and then to feed these into building the capacity of the patient advocacy sector. In effect, the UK needs its own Telethon.

2. Polical opportunities: a second major area of social movement studies is called political process theory. This is the study of how changes in political opportunities – such as governments favourable to a cause, politicians speaking out, new legislation, etc – create the conditions that allow further change. Again, France is way ahead. In the late 1990s, it was the French government that led the way in Europe for the adoption of orphan drug legislation in 2000. France is already onto its second national plan on rare diseases, which creates a strongly supportive environment for the rare disease movement there to flourish.

In the UK, meanwhile, we’re only just starting to move ahead on planning our first national plan on rare diseases. Although the NHS, through its national commissioning, is increasingly supportive of clinical care for rare diseases, there still isn’t enough awareness at the top political level. Even institutions such as the MRC are still lagging far behind their French counterparts. That’s why the work of lobbying groups such as Rare Diseases UK is so important in order to change the political landscape here and encourage the NHS, the MRC and others to do much more.

3. Interpretive frames: A third area of social movement studies is social psychology – how groups frame their interpretation of specific issues and how this then motivates them to action. An interpretive frame is a way of understanding the world. For instance, the French have a strong interpretive frame among the public around ‘orphan diseases’. Most people in France I speak to have heard of orphan drugs and know that people with orphan diseases suffer from isolation, marginalisation and problems with access to treatment – again, thanks to the massive educational work carried out by the Telethon and other French organisations.

The UK, meanwhile, has only a weak interpretive frame among the public. For instance, I did a presentation to 90 Cambridge students – some of the brightest young people in the UK – three weeks ago. I asked them if anyone knew what an orphan disease was. One person put her hand, and even then, she got it wrong.

Hence there is an urgent need to raise public awareness about rare diseases in countries such as the UK. We need to frame their understanding of it – through the media, through fundraising campaigns, through events – and move them to support us.

4. Collective identity: the fourth major strand of social movement studies analyses what it calls ‘new social movements’ that form around a collective identity (pacifism, anti-capitalism, etc). A feeling of collective identity binds a movement together: it creates a common way of seeing things, of taking action together, or feeling part of a community. Again, France is much stronger here: the rare disease movement is housed within a single building (the Plateforme des Maladies Rares), they have an annual ‘Marche des Maladies Rares’ and do common actions and fundraising.

This is just starting in the UK. Rare Disease Day on Monday will be an opportunity for the rare disease movement to get together at the House of Commons and start to shape a common identity. But we are still years behind the French. We need to work closer together, to bring together all the rare disease groups, and to take action in a concerted way.

What about industry in all this? I’m convinced it should play a crucial role. For a start, industry and patient groups need to realise that they share a common interpretive frame – about finding a cure for rare diseases – and are benefiting from similar political opportunities with national plans on rare diseases and orphan drug legislation.

But there are major differences in resources (companies making billions from orphan drugs while individual patient groups struggle to collect a few thousand pounds) and collective identity (the corporate world versus the non-profit world).

If we want our movement to make a major difference in the fight against rare diseases, industry will have to provide significantly more resources to patient groups than the crumbs it currently provides, but while strictly respecting patient groups’ independence and averting conflicts of interest that could undermine them.

Meanwhile, patient movements in countries such as the UK need to organise themselves much more effectively, reach out to the public with major educational and fundraising campaigns, and drive the policy agenda to a new level.

C.A.R.D. aims to provide a dynamic and unified voice to the approximately 60,000 rare disorder patients who live in Cyprus. In representing these patients, C.A.R.D. works closely with the Cypriot Ministry of Health, the Cyprus Institute of Neurology and Genetics, patient associations and the medical community in order to improve patient quality of life. To achieve this, C.A.R.D. provides the latest information on research developments to the medical community as well as endorses a public awareness programme aimed at informing health authorities and the wider Cypriot society about the challenges rare disorder patients face. The ultimate goal is the implementation of a national programme for rare disorders.

In line with these goals, C.A.R.D. is organising the 1^st National Scientific Conference on Rare Disorders due to take place on the 19^th and 20^th March 2011 at the Cyprus Institute of Neurology and Genetics in Nicosia. The conference will be held under the auspices of the Cyprus Ministry of Health, Cyprus Rheumatology Society, the Neurology Society of Cyprus and the Cyprus Human Genetics Society.

The event will adopt the slogan proposed by EURORDIS, ‘Rare but Equal’, and desires to raise and discuss issues of health inequality. The aspiration of the conference, furthermore, is to promote C.A.R.D.’s objectives, of which the most important is the continual provision of information and education of doctors and patients about new developments in areas concerning the prevention and clinical management of rare disorders. Furthermore, the conference will enable C.A.R.D. to make members of the public and national health authorities aware of the difficult and challenging struggle that rare disorder patients experience. To meet these objectives, medical experts on rare disorders, of national and international prestige, as well as high-ranking EU officials have been invited and will participate in the conference.

For more information on C.A.R.D. and our upcoming conference, please email us at card@thalassaemia.org.cy .