Tuesday, February 28, 2012

Rare Disease Day 2012




In approximately 2 hours and 11 minutes, it will be the official start of Rare Disease Day in the US for 2012; here's a little history:



History of Rare Disease Day


Rare Disease Day was first observed in Europe in 2008. It was established by EURORDIS, the European Rare Disease Organization. In 2009, EURORDIS asked NORD to be its partner in this initiative and to sponsor Rare Disease Day in the United States. Now, the concept is rippling out around the world. In 2011, over 60 countries participated.


Each year, World Rare Disease Day will be observed on the last day of February (Feb. 29 in leap years and Feb. 28 in other years). Our goal is to draw attention to rare diseases as an important public health issue that cannot be ignored.


To learn more about the global initiatives supported through rare disease day please visit www.rarediseaseday.org.


NORD/EURORDIS Strategic Partnership


In May of 2009 NORD and EURORDIS entered into a strategic partnership to catalyze transatlantic collaboration. The goal is to support policies and practices that speed up scientific discoveries and innovative treatments, provide access to the highest standard of diagnosis and care, encourage more patient-centered health care systems, offer a higher quality of information, and help break the isolation of the people living with rare diseases.


Through the partnership, patient advocates in Europe and the US are working together closely. Key initiatives include an international public policy advocacy blog, online rare disease patient communities and Rare Disease Day. NORD and EURORDIS are also establishing common positions on key advocacy priorities.


While hydranencephaly is recognized as a rare disease, a definition established in 1983 with the Orphan Act as occurring in fewer than 200,000 cases, our foundation continues to await our formal 501c3 nonprofit exemption and chose to continue to wait before becoming more involved. This doesn't mean we do not want to recognize these efforts, as well as our friends across the globe, not only those with hydranencephaly but other rare diseases/conditions/syndromes/etc. as well. In the US alone, their are about 30 million individuals affected by rare disease (that's a staggering statistic equaling 1 in 10 people!).


This year brings yet another initiative and theme: 


Focus for 2012: "Rare but Strong Together"



"Solidarity" the 2012 theme focuses on the importance and the need for collaboration as well as mutual support in the field of rare diseases, let’s show them our Solidarity!


“It makes sense to act together because we face similar challenges”


We aim at extending this sense of solidarity to society at large: 


Get involved in Rare Disease Day 2012


People active in the field of rare diseases are not alone and need not act alone in order to meet their objectives. Although few and far between, collectively they are many and by acting together will be stronger.


United we are stronger


Since patients are rare, expertise is scarce and people living with rare diseases face similar challenges, so acting together makes sense.


Rare disease patients all over the world face the same types of challenges:



  • Access to correct diagnosis
  • Lack of information
  • Overall lack of scientific knowledge
  • Social consequences
  • Lack of appropriate quality health-care
  • High cost of the few existing drugs and care
  • Inequities in availability of treatment and care
  • Isolation
  • Together we can do more



“Rare diseases is an area where collaboration is essential”


The following are areas where it makes sense to join efforts:



  • Access to correct diagnosis (Genetic testing, newborn screening)
  • Increase availability of information (Coding and classification, telemedicine)
  • Improve scientific knowledge (Registries and databases, international research platforms, multi-centred clinical research, development of drugs and diagnostic tests, training of professionals)
  • Mitigate social consequences (Specialised social services that would improve the quality of life of people living with a rare disease and their families, such as Help Lines, Respite Care Services and Therapeutic Recreation Programmes)
  • Increase provision of appropriate quality healthcare (International reference networks of centres of expertise, multidisciplinary care)
  • Improve access to the few existing drugs and care (Pricing and reimbursement, healthcare reform)
  • Eliminate isolation (Patients and families support and empowerment, networking and community building)
  • Building a better world for rare disease patients



Given the rarity of both patients and experts, most actions related to rare diseases have to be performed in cooperation between different countries, regions and levels. Progress for the benefit of rare diseases patients can only be achieved through close international cooperation.



Next year look for Global Hydranencephaly Foundation to be partnered with this invaluable advocacy effort on a grander level. But, in the meantime, it's not too late to get involved personally this year!! You have 2 hours to start celebrating the advances that have been made in diagnoses and hope for these conditions, while also sharing the word of how much more needs to be accomplished. Visit the above links to learn more, and find the campaign on Facebook, Twitter, YouTube, FlickR, and special needs blogs across the bloggy-verse. Be sure to watch the following "official" video of Rare Disease Day 2012 (*stop the music player at the bottom of the blog prior to start):

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