Throughout Europe there can be found more than 30 million people affected by rare diseases, also referred to as orphan diseases. In a few days time we shall have a day to remind the many people having to face some disease which gets not enough interest of the medical, pharmaceutical world because with only it affects less than 1 in 2000 people, they are not a real asset for them to gain money with new drugs.
There are between 6000 and 8000 rare diseases. On the whole, rare diseases may affect 30 million European Union citizens. 80% of rare diseases are of genetic origin, and are often chronic and life-threatening.
Rare diseases do not only affect those diagnosed, but their families, friends, care takers and society as a whole.
While one rare disease may affect as few as 1 in 50,000 people, rare disease patients collectively comprise 6 to 8 % of the EU population.
The European Organisation for Rare Diseases (EURORDIS), a non-governmental patient-driven alliance of organisations and individuals active in the field of rare diseases in Europe, wants to be the voice of those patients which are forgotten many times. The Eurodis organisation represents over 500 rare disease patient organisations in more than 50 countries, covering at more than 4000 rare diseases.
EURORDIS calls for the adoption and actively supports the implementation of coherent and coordinated rare disease strategies at the European and national levels. They organise and initiated the European Conference on Rare Diseases (ECRD).
At the seventh meeting of the European Union Committee of Experts on Rare Diseases (EUCERD) on 31 January 2013 in Luxembourg, the EUCERD document Recommendations on Rare Disease European Reference Networks was unanimously adopted. It is the third such recommendation to be adopted by the EUCERD and includes 21 individual recommendations around the mission, vision, scope, designation, governance, structure, funding, and evaluation of European Reference Networks (ERNs). EURORDIS has been involved in the reflection process on Centres of Expertise and European Reference Networks from the beginning, and EURORDIS representatives at the EUCERD actively participated in the elaboration of the EUCERD Recommendations.
On Februari 26 they asked for faster access to medicines for #RareDisease patients.
The ERNs will provide the framework for healthcare pathways for rare disease patients via a high level of integrated expertise. ERNs will promote the access to common tools such as registries, telemedicine, and best clinical practice guidelines for diagnosis and care. Nationally designated rare disease Centres of Expertise will be core participants in the rare disease ERNS, which will also integrate associated centres and appropriate healthcare professionals. The Council Recommendation on an action in the field of rare diseases (8 June 2009) encourages the EU Member States to foster the participation of Centres of Expertise in the ERNs. The EUCERD has already issued Recommendations on the quality criteria for such Centres of Expertise (learn more).For Yann Le Cam, Chief Executive of EURORDIS and Vice-Chair of EUCERD, “The strategy for ERNs is to progressively cover all rare diseases and to make sure all patients across EU27 will have access to a healthcare professional linked to such an ERN. This process will be step wise, starting in 2014/2015 with the diseases for which there already exist expert networks, registries, patients groups, orphan medicines, and guidelines, and taking over 10 years for full implementation and potential”.
As we approach the sixth Rare Disease Day on the last day of February, the EUCERD Recommendations on European Rare Disease Reference Networks place one more stepping-stone on the path toward making this year’s Rare Disease Day slogan “Rare Disorders without Borders” become a reality.
Rare Disease Day! 28 February 2013!
The official video of Rare Disease Day
The official video has been translated in 13 languages including Arabic, Hebrew, Greek, and Czech… View and share the video!
Events around the world!
Preparations for events around the world continue… Over 60 countries participating in 2013. Find an event near you.
Please do read more about it:
- Information to Patients Debate 2010; as if the Internet was still a walled garden
- US Rare Disease Govt. Policy: Lifetime and Annual Caps Issue Not Yet Resolved
- The EMEA is now called European Medicines Agency and the portfolio of pharmaceuticals is being transfered from DG Enterprise to DG Health & Consumers.
- People living with rare diseases ask for plans, or national strategies, in 25 European countries.
- Rare diseases at the forefront to address the healthcare challenges of the future
- Reflections leading up to Rare Disease Day. (sportytwinmom.wordpress.com)
I share this only because, I know, I have been there allot since my diagnosis with Cowden Syndrome.
With so many blessings in my life, I feel led to give back. I’m contemplating doing something to help raise awareness in the medical community regarding Cowden Syndrome. This year rare disease day is Feb 28th. Check out the global genes project website on how you can get involved: http://www.globalgenes.org or runningforrarediseases.com.
- Rare Diseases do you know what they are? ” Firenze Mom (firenzemoms4moms.wordpress.com)
Why do I bring them up? Well there are so many out there and more and more people are getting diagnosed with them and others are dying from them.
- Two new research programmes in stratified medicine and rare diseases launched (beinghealthyhomeandaway.blogspot.com)
Two new research programmes costing a combined S$32 million have been launched, one dealing in stratified medicine and the other in rare diseases.
- Shining the light on rare diseases (smh.com.au)
Australian cricket captain Steve Waugh has joined celebrity muscle to help make the public aware of World Rare Disease Day and the frustrations many families endure to receive help.The Steve Waugh Foundation is the last hope for many families who have a child, or children, afflicted by rare diseases and, on Thursday, World Rare Disease Day, Waugh will join actress Georgie Parker, former Olympic swimmer and author Lisa Forrest and celebrity hairdresser Joh Bailey to highlight the plight faced by 2 million Australians, 400,000 of whom are children, on a daily basis.”I think there is more recognition for what a rare disease is,” Waugh said. ”People are starting to recognise 10 per cent of the population has a rare disease.
- What Are Ypu Doing for Rare Disease Day (cmtnyus.wordpress.com)
Anyone can be involved in Rare Disease Day and there are many suggested activities. The day has been established as a grassroots advocacy day and we encourage everyone to participate in some way! What are you doing for Rare disease Day?
- How Dan’s rare disease didn’t stop his mainstream education (specialneedsjungle.com)
Many children have special needs because of a rare disease that may present extreme difficulties with being included in mainstream education. Many others, however, whose condition is physical and not a learning disability, simply need support to help them manage the classroom environment on a practical level.
- Rare Diseases do you know what they are? (firenzemom.wordpress.com)
I have a Rare Disease, called Wegener’s granulomatosis (WG), which has recently been renamed granulomatosis with polyangiitis (GPA). It is a form of Vasculitis and is an autoimmune disease. I would like to promote awareness by sharing my story.
- Rare diseases not well treated in China: expert (nzweek.com)
It is also difficult for diagnosed patients to receive timely treatment due to a shortage of effective drugs, most of which are imported from foreign countries. They usually take a long time to receive approval and get to market
- What is your rare disease experience? (undiagnosed.org.uk)
As you know, there is still an urgent need to better understand the rare disease community and the needs of the patient and medical communities. This is why Genetic Alliance UK and Rare Disease UK have decided to participate in an initiative being led by Shire Human Genetic Therapies that will help to identify and bring increased awareness to the myriad of issues facing the rare disease community.
- Child’s struggle inspires race for cure (cnn.com)
Rafi Kopelan is a typical 5-year-old. She’s mastered Candyland. She’s learning to read. Given a choice, she’d spend hours on the swings at the playground.