Rare Diseases

News

Report from EURORDIS Membership Meeting 2017, Budapest

 

2016- Early childhood disabilities, rare diseases and guidelines; a rare-best practices session’. At the 6th Congress of the European Academy of Paediatric Societies (EAPS) in Genève.

As UNICEF, is looking at referral pathways and capacities at the primary care level, a partnership with professional associations, such as EAP can contribute importantly to building the capacities of practitioners in early childhood identification and intervention. Parents can unite and initiate their own syndrome specific organizations and in such a way contribute to person-centered health care. Neurometabolic diseases cause the highest level of disability, but the higher level of disability does not mean the lower quality of life. Parents wish for less in-patient hospital care and more hospital at home. The Rare best practice project has to collected best practice guidelines and identify rare disease research needs. Rare disease guidelines can and will support multidisciplinary, holistic, continuous, person-centered and participative care to people with rare diseases and full realization of their fundamental human rights.
Bettina Schwethelm, Erik and Marian de Graaf, David Neubauer,  Arunas Valiulis and Liesbeth Siderius

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RareBestPratices Guidelines http://www.rarebestpractices.eu/

About us

The European Academy of Paediatrics (EAP) acknowledges:

– The gap in health care as identified by EURORDIS, the European umbrella organisation for patients with rare diseases, The Voice of 12,000 Patients, in March 2009.

– The Recommendation of the Council of the European Union in the field of rare diseases to:

Establish and implement plans or strategies for rare diseases at the appropriate level or explore appropriate measures for rare diseases in other public health strategies, in order to aim to ensure that patients with rare diseases have access to high quality care, including diagnostics, treatments, habilitation for those living with the disease and, if possible, effective orphan drugs, and in particular; Luxembourg, 9 June 2009.

 

The EAP Rare Disease (RD) working group, established in 2010 will serve as a network of pediatricians to:

  1. Provide sufficient services for expert diagnosis or confirmation of diagnosis.
  2. Ensure appropriate capacity and equal access to follow-up and management of children with rare diseases.
  3. Produce and adhere to good practice guidelines and implement outcome measures and quality control.
  4. Use and demonstrate a multi-disciplinary approach in management of patients and families.
  5. Document and maintain a high level of expertise and experience through publications, grants or honorary positions, teaching and training activities
  6. Make a strong contribution to international research and support international trials in treatment of rare diseases.
  7. Provide epidemiological surveillance, such as by registries, preferably at a European level.
  8. Communicate with health authorities and policy makers in order to improve the finances for health care of patients with rare diseases.
  9. Support, communicate with, and advise patient rare disease networks and organisations
  10. Collaborate with initiatives of the European Commission Rare Disease Task Force, in developing national plans for integrated services and support for patients and families affected by rare diseases.

The EAP RD working group aims to achieve these goals in acting supplementary to parties active in the field of rare diseases.