SearchEDS UK contributes to new rare disease report
- 13 July, 2022
- EDS UK news
Rare disease report ‘A Fairer Future: Towards a more equitable delivery of care for those with rare diseases and conditions‘ has been published, with contributions included from EDS UK. The report is the result of a series of workshops convened by independent global policy institute Public Policy Projects, with patient advocates and experts from clinical medicine, research, policy and industry. It provides an important commentary on the experiences of individuals and families living with rare conditions and makes detailed recommendations, based on real world experience, to be considered during the further development and implementation of rare disease action plans by the governments of the four UK nations. To our knowledge, this is the first time that the Ehlers-Danlos syndromes have been specifically mentioned in a report of this type.
The UK Rare Diseases Framework was published in January 2021. It outlines four high-level priorities for rare diseases in the UK over the next 5 years:
- helping patients get a final diagnosis faster
- increasing awareness of rare diseases among healthcare professionals
- better coordination of care
- improving access to specialist care, treatments and drugs
Most types of Ehlers-Danlos syndromes (EDS) are rare and we fully support these priorities. They also apply to hypermobile EDS (hEDS) and the closely related hypermobility spectrum disorders (HSD), although there is increasing evidence that these conditions are not rare.
Action plans laying out how the Rare Disease Framework will be implemented have or are being developed for each UK nation:
- England’s Rare Disease Action Plan, published in February 2022, covers plans for 12 months, with subsequent annual plans promised for the next five years. The well-established EDS National Diagnostic Service, which carries out genetic testing for suspected rare or complex types of EDS, is part of the NHS Genomic Medicine Service (actions 3 and 4) but, as the genetic basis for hEDS and HSD is not known, the service is not used to diagnose these conditions. That is why the plans around action 5 (pilot new approaches for patients with undiagnosed rare conditions) are especially welcome for our community affected by hEDS or HSD. Actions 6-9 under the priority of ‘increasing awareness among healthcare professionals’ and some of the plans under priority 3 ‘better coordination of care’ have the potential to benefit people with any type of EDS or HSD but the latter, especially, will need local consultation with patient advocates to achieve the best outcomes. The same applies to the actions under these priorities in the Wales and Northern Ireland plans.
- Northern Ireland’s Rare Disease Action Plan, published in March 2022 and covering an initial period to March 2023, includes 14 actions and demonstrates the excellent work of the Northern Ireland Rare Disease Partnership in influencing the progress made so far. The plan includes scoping work for a rare disease registry and an expert centre for rare diseases.
- Wales has had a rare disease action plan since 2014. An upated plan was published in June 2022. A detailed three-year genomics delivery plan (2022 – 2025) for Wales has been developed to significantly enhance the ability of genetic techniques to improve the ability of patients to get a final diagnosis faster. A senior clinician has been appointed as the Clinical Champion for Rare Diseases and steps to train clinicians and improve knowledge-sharing are laid out.
- Scotland has also had its own implementation plan for rare diseases since 2014 and the government is planning to publish a new action plan over the summer. EDS UK is represented in the rare diseases Patient Voices Group, established by Genetic Alliance UK, to ensure the lived experiences of patients are embedded into the plans and subsequent policies.
The involvement of EDS UK in the ‘A Fairer Future’ report helps to raise awareness of the Ehlers-Danlos syndromes and hypermobility spectrum disorders. Staff from the Department of Health and Social Care and other key stakeholders attended the launch event and we will be following up on some promising new connections. We are very pleased to have appointed volunteer Lead Engagement/National Strategic Representatives in Scotland, Wales and Northern Ireland to help drive forward our new public policy work, including engagement in future work on the rare disease action plans.