Individual rare diseases as infrequent per definition, but as a group they are not as rare as many of us believe. Due to their rarity, individual conditions are often hard to identify for frontline doctors.
There is a huge variability in types of rare diseases. Even when correctly referred to specialists, and ultimately diagnosed by experts, there may be no available treatments for these patients. This leaved the primary care paediatrician with few incentives to learn about rare diseases vs. other conditions.
EiP now wishes to improve the situation for those patients who have treatable conditions, i.e. where approved medicines exist and can therefore safely prevent or delay disease progression. EiP initially seeks to raise awareness about one such group of rare diseases, Lysosomal storage disorders, which general paediatricians may encounter as frontline doctors. The capacity of general paediatricians to accurately suspect rare diseases and make correct presumptive diagnoses in these large patient volumes is a critical success factor for early diagnosis.
Market research among paediatric healthcare professionals
In the second quarter of 2012, a global survey will be conducted in order to identify current perceptions, understanding and general paediatric practice related to Lysosomal Storage Disorders. This first crucial step in a population of over 60,000 paediatric healthcare practitioners will provide the necessary insights about the current level of awareness, potential knowledge gaps, and preferred type of clinical support to enable more effective handling of these patients. The results will thus provide an updated map of the clinical understanding and support needs among paediatric primary and secondary care practitioners. The survey will also itself serve as a teaser to increase and stimulate further awareness among general paediatricians.
- E-learning courses on treatable Lysosomal Storage Disorders
Based on the results of the survey, 60-minute e-learning modules on treatable Lysosomal Storage Disorders will be developed in cooperation with the programme supporters. The modules will be hosted on the EiP e-learning platform and will be accompanied by downloadable educational material. To increase reach and impact, the modules could be translated in different languages.
- New rare diseases website for general paediatricians
This will be created especially for the initiative. The website will host the e-learning platform and at the same timework as an information centre. Programme supporters are welcome to contribute to the information centre by providing content.
- A feature article on treatable rare diseases
In order to provide further education to General Paediatricians, a feature article will be published in a special e-paper edition of EiP. The content of the article will be developed in cooperation with the programme supporters.
- A Lysosomal Storage Disorders session at the EiP conference 2012
This is a conference session that will summarize the best current understanding of the Lysosomal Storage Disorders, and how primary care practitioners can best use the new support resources to identify prospective patients for specialist referrals.
An extensive communications programme: The initiative aspires to make a far-reaching impact in paediatric health care. The 10,000 paediatric HCPs to increasingly follow the EiP conference e-modules is our primary but not only target group. The initiative will be promoted, educated and discussed in a substantially larger community of 60,000 paediatric healthcare practitioners, supported by an extensive communication programme that will effectively convey survey results with key insights, our prioritized key messages for mass communication, and the EiP position statements with actionable recommendations to the members of all participating institutions. This wider community will also include key paediatric healthcare policy makers in Europe and beyond.