Torsten Hildebrandt
Cwm Taf Morgannwg University Health Board
Rare diseases (RD), defined by an incidence of less than 1 in 2000 are individually rare, but collectively common with 1 in 17 people being affected. It is estimated that there are more than 7000 rare diseases with new conditions being continually identified.
RD disproportionately affect children with 75% of conditions diagnosed in childhood. These children often have complex needs. Provisions for patients can be disjointed with specialist services difficult to identify and access. There is often a lack of comprehensive information for patients and healthcare professionals.
The project will initially establish a paediatric clinic for children with RD, aiming to expand this across paediatric services in CTMU. We will test this model using patient reported outcome / experience measures, data capture and audits.
Patient information will be linked in a new way to international data bases specific to RD (Orphanet, Human Phenotype Ontology and others).
There will be close liaison with the Wales Rare Disease Implementation Group (RDIG), Genomic Services and Syndrome Without a Name (SWAN) clinic.
If successful, this model will be expanded to other specialities in CTMU and national paediatric providers with an aim to interlink evolving services with shared databases and archives.
In parallel we will build up an interest group of people in CTMU across all specialities. This will result in:
- Linkage of this group into national (UK Rare Disease Forum) and international (European Joint Programme on Rare Diseases and others) programmes
- Innovative educational facilities utilizing national and international resources accessible for users through CTMU internal SharePoint, Genomic Alliance and HEIW websites
- A dedicated portal for primary care to facilitate rapid flow of disease specific information
- Implementation of the Wales Rare Disease Action Plan across multiple specialities
- Including and strengthening the voice of the patient using patient advocates, parents and non-medical professionals of different ages
