Torsten Hildebrandt
Cwm Taf Morgannwg University Health Board
Project Background:
Rare disease, defined by an incidence of less than 1 in 2000 people are individually rare, but collectively common. Currently there are up to 7000 different conditions recognized, a number which will increase in the future. 1 of every 17 of us will be affected by a rare disease at some time in our life. Children are disproportionately affected with 75% of rare diseases presenting in young age. Rare diseases often are life limiting and /or life threatening. Patients and families often have complex care needs with significant impact on education, independent lifestyle, financial and social security, physical and mental health. All of this can lead to healthcare inequality and a lack of provisions including the delivery of timely, tailored emergency management, appropriate surveillance and long-term support.
Project Aims:
- Develop a new multidisciplinary service for children with rare disease in partnership with patients, parents and carers
- Identify children with complex rare disease in the catchment area of a Paediatric unit in a District General Hospital
- See these patients in clinic and address care needs as above
Project Outcomes:
The service for children with complex rare disease has been established and is running with following objectives:
- Multidisciplinary clinic run in partnership with patients and their carers
- Enabling patients and their carers to ‘understand their disease’
- 2-hour appointment offered
- Pre-clinic extensive disease-based search of databases and medical literature documented on Welsh Clinical Portal and discussed in clinic
- Surveillance needs and time intervals defined, documented and actioned
- Emergency measures defined and documented
- Information patients and carers bring to the appointment i.e. via social media discussed
- Patients signposted to patients’ groups
- Referral and research centres identified and approached
- Transition to adult services initiated if appropriate
- Follow up communication via appointment, telephone or home visit as per patients’ choice offered
- Service open for referrals
- 125 patients with 103 conditions identified and awaiting review
- 8 patients seen
Project Impact:
Patient Reported Outcome Measures (PROMs) assess the quality of care delivered from the patient perspective. Patient reported experience measures (PREMs) are tools that capture a patient’s experience and perception of what happened during their encounter. PROMs and PREMs were validated through CEDAR (Centre for Healthcare Evaluation Device Assessment and Research).
The clinic was started before PROMs and PREMs were agreed within the Welsh NHS structure and therefore completed for only 3 patients, showing an improvement in all categories. Analysis of outcomes is ongoing.
