ICORD Meeting Brings Inspiration to the Rare Disease Community

Cara Hesse | April 05, 2012

Aimee Falchuk is Genzyme’s Director of Policy Programs. She shares this report from her recent experience at ICORD in Tokyo.

I just returned from Tokyo, where I attended the 7th Annual International Conference on Rare Diseases (ICORD). As a global meeting that brings together key players from the rare disease community, it’s a great forum for the exchange of ideas and inspiration.

More than 21 countries were represented at the conference and many of the patient organizations shared the challenges they face bringing awareness to the needs of the rare disease community in their countries. Many also shared their successes, particularly in creating systems and networks to facilitate improved services.

Multiple sessions at the conference were focused on the experience of the patient and the needs of the patient community. It may not be surprising that the most common theme was the importance of early and accurate diagnosis. As one patient leader stated, “For many of our patients, early and accurate diagnosis is a bigger problem than lack of therapy.” For those in countries with established newborn screening programs, many spoke of the value of those policies in getting to an early and accurate diagnosis but also increasing awareness of rare diseases within the medical community.

Given the state of the global economy it was hard to avoid topics like reimbursement and access to services for rare diseases. John Forman, President of the New Zealand Organization for Rare Diseases, stated that while it used to be the physician who knows best it is now “the health economist knows best.” He said this in reference to the battle he and the community face in New Zealand in securing reimbursement for treatments for rare diseases. John and others affirmed the need for the community to educate payers and policymakers about the unique attributes of rare diseases and how perhaps traditional economic evaluation tools like cost effectiveness may not adequately reflect the value of treatment for rare diseases.

International collaboration was a key theme. Regulators, industry, researchers and advocates alike spoke of the challenges that arise as a result of multiple and distinct regulatory requirements, lack of universal coding, and multiple definitions of rare diseases across the globe. Many spoke of the importance of the push for the international classification, identification, and cataloguing of rare diseases.

At the end of the meeting, the ICORD board put forward a draft joint declaration entitled, “Rare Diseases: An International Public Health Priority,” which can be found on the ICORD website: www.icord.se The draft document discusses many of the challenges and opportunities for rare diseases and also puts forward ten main recommendations to be addressed at an international level as a matter of priority. This document could be used as a tool at the local level for advocates looking to build and improve the rare disease infrastructure in their country.

At the conclusion of the meeting you could not help but feel inspired by the tireless effort of the rare disease community to push forward an agenda to support the diagnosis, treatment, and support for rare diseases. There was a genuine sense of partnership among all stakeholders in attendance. As Sharon Terry from the US Genetic Alliance so eloquently stated, “It can no longer be ‘us versus them’ but rather all of us together.” There is much work to be done to make rare diseases an international public health priority and to ensure a sustainable and effective system for patients and families afflicted with a rare disease. This concept of partnership is therefore an important principle in ensuring the success of this goal.

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