RARE DISEASES Working Group

RARE DISEASES Working Group

The council of the European Union states “Rare Diseases are a threat to the health of EU citizens in so far as they are life threatening or chronically debilitating diseases with a low prevalence and a high level of complexity”. In 2009 the European Rare Diseases Patients Organisation (EURORDIS) published the “Voice of 12,000 patients”.  Individuals with a rare disease and their families reported on years of waiting for a diagnosis, after misdiagnosis and numerous physicians’ visits. Some were rejected by health care professionals because of the complexity or associated symptoms.

EAP responded with the establishment of a Rare Diseases Working Group.  The majority of the over 6,000 different rare diseases present in childhood. In the paper “The Importance of Rare Diseases: from the gene to society”, Dodge et al ADC, 2010, is described why and which support is needed from European paediatricians for the thousands of children with rare, disabling and life-threatening conditions.

Rare Diseases Working Group members have been organising and presenting in over 10 different national and international paediatric and rare disease conferences.

Appropriate early identification, diagnostic confirmation, and longitudinal management provide the gateway to the prevention of illness and optimal overall health for children with rare and chronic conditions. The Rare Diseases Working Group supports actions towards a joint global reinforcement of a holistic approach of each child with a rare and chronic condition.

AGENDA of RARE DISEASES Working Group

SPRING MEETINGS

Spring Meeting 2019

Spring Meeting 2018

Spring Meeting 2017

Spring Meeting 2016

Spring Meeting 2015

Spring Meeting 2012

WINTER MEETINGS

Winter Meeting 2019

Winter Meeting 2018

Winter Meeting 2017

Winter Meeting 2016

Winter Meeting 2015

Winter Meeting 2014

Winter Meeting 2013

Winter Meeting 2012

MINUTES of RARE DISEASES Working Group

SPRING MEETINGS

Spring Meeting 2019

Spring Meeting 2018

Spring Meeting 2017

Spring Meeting 2016

Spring Meeting 2015

Spring Meeting 2014

Spring Meeting 2012

WINTER MEETINGS

Winter Meeting 2018

Winter Meeting 2017

Winter Meeting 2016

Winter Meeting 2015

Winter Meeting 2014

Winter Meeting 2013

DOCUMENTS of RARE DISEASES Working Group

UHC Survey 2019 Summary

Survey: Universal Health Coverage

Report on Child Health Ecosystems

Challenges in Paediatrics: From Rare to Care (4th Baltic Paediatric congress May 2019)

Transparency on development costs and agreement on maximum price of Orphan Medicine in Europe is warranted

Interoperability in Child Health Rare Diseases

Interoperability in Child Health

RD Survey 2017

Early Childhood Disabilities, Geneva, 2016

EAP’s experience from RareBestPractice Project, 2016

Letter to the European Commission Expert Group on Rare Disease, 2016

Early Childhood Development and Disability, 2012

ECD-Disability-UNICEF-WHO, 2012

Report PKU Meeting Liverpool, 2012

First International Workshop, Rome, 2012

EAP Statement, 2011

EAP Mission Statement, 2010

PUBLISHED ARTICLES  of RARE DISEASES Working Group

Methodology for production of best practice guidelines for rare diseases, 2014

RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases, 2014

The Importance of Rare Diseases: from the Gene to Society, 2011

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