Tag Archives: Rare Disease Day

Rare Disease Day: Building momentum towards international collaboration.


As we celebrate the International Rare Disease Day 2012 we are turning rare diseases into an international movement as well as into an international public health priority.  These are critical, unavoidable long term objective to sustain and boost national and regional dynamics as much as to enable global approaches when they are more relevant and efficient than national ones due to rarity.

One of EURORDIS aims – as stated in its Strategy 2010-2015 – and a main long term objective of the EURORDIS partnership with NORD are to support people living with rare diseases in becoming this international civil society movement speaking with one voice and gaining visibility as much as influence in international institutions.

The International Rare Disease Day, initiated in 2008 and organised by EURORDIS together with all national alliances and all stakeholders friends around the world, is a dynamic vector in achieving this objective. Rare Disease Day is a rapidly growing success reaching out to more countries – over 60 countries in 2012- and spreading the word thanks to local events, social media and viral communication. It is an essential campaign to raise public awareness, to attract attention of policy makers and a concrete common action to bear the sense of sharing common destiny and goals.

The International Conference on Rare Diseases & Orphan Drugs, of which I am one of the co-funding members, organized since 2005, first in Stockholm (2005), Madrid (2006), Brussels (2007), Washington (2008) and Rome (2009) are now moving to Buenos Aires (2010), Tokyo (2012) and soon Shanghai (2013) bringing together leaders from the patient advocacy organizations, public policy, academia and industry is a useful action to leverage the local efforts in gathering the relevant stakeholders and bringing the challenges of rare diseases to the surface. ICORD has also the potential to create a core international community of rare disease leaders sharing the same vision and common objectives.

The International Consortium for Rare Disease Research, initiated in 2010 by the European Union with the United States, Canada, Japan and other active countries and private players, is an essential initiative. The IRDiRC is now fully established since 2012 to promote globally coordinated policy for the development of the knowledge base for rare diseases as much as new diagnostic tools for most rare diseases and the ambitious objective of 200 new additional therapies for rare diseases by 2020.  Following our advocacy, EURORDIS and other main national rare disease organisations are full members of IRDiRC Executive Committee.

The immediate use of OrphaCode, and tomorrow a possible WHO classification of rare diseases in the next ICD 11, is instrumental to shape international health information systems on rare diseases and enable new international collaboration. This OrphaCode is already widely and increasingly used around the world. These efforts are significantly supported by the European Union.

EURORDIS has initiated a Joint Declaration “Rare Diseases: an International Public Health Priority” currently reviewed and to be adopted in the coming year by umbrella rare disease patient organisations from around the world so to speak with one common patient voice to international institutions such as WHO and OECD, and take our future advocacy efforts at a new level.

EURORDIS will facilitate improved communication between these umbrella organisations in order to share information, exchange experience and coordinate limited international actions. Being itself an organisation covering 48 countries and working in seven languages, EURORDIS is better equipped to support these efforts and create the “Rare Disease International” network. This was discussed in January 2012 in Tokyo between EURORDIS for Europe, NORD for USA, CORD in Canada, NZORD in New Zealand, TZORD for Taiwan, Geizer for Argentina and the Japan Patients Association.

In parallel, EURORDIS and NORD will continue and grow their joint efforts to create International on line communities of patients and families, involving patient organizations from around the world when they exist, so to raise their disease awareness internationally, to ease exchange and mutual support across countries and continents, and to promote new patient generated knowledge.

This vision and step wise approach was presented by EURORDIS last month at the International Conference on Rare Diseases and Orphan Drugs (ICORD) in Tokyo, Japan, and welcomed by participants.

By dedicating a limited 1% or 2% of our respective resources to this international cooperation, we can make a huge difference to the hundred millions of patients living with a rare disease around the world while enhancing the effectiveness of our efforts in our respective remits.

Live from Tbilisi, Georgia

Live from Tbilisi. I am at the 2nd South Caucasia Conference on Rare Diseases and Orphan Drugs. This conference organised by our our Georgian member (Georgian Foundation for Genetic and Rare Diseases – GeRaD) together with the Alliance for Rare Diseases of the SOCO Foundation under the aupisces of EURORDIS thanks to the support of twelve scientific or medical or religious charitable organisations and the sponsoring of fifteen companies is gathering over 250 participants and is a big success.

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”.