Action an effective NHS care pathway for patients with Ehlers Danlos Syndrome

EDS is an inherited connective tissue abnormality.People with EDS have no care within the NHS. Healthcarer's have no access to formal training, forcing patients to self fund private care with the few specialists available, in order to manage their multiple,painful & life threatening disabilities.

EDS UK and the Royal College of GP's are working together to improve education on EDS and to create a 'toolkit' for GP's managing patients with the condition. (https://www.ehlers-danlos.org/news/spotlight/).

At present, patients like myself are forced to fundraise for urgent and long term care to manage disabilities, extreme pain, dislocations, and at times life saving surgeries abroad. No specialist area has claimed the condition leaving GP's unaware of who to refer patients to for their care

NHS England commissions services for patients who have Ehlers Danlos syndrome (EDS) from specialist rheumatology centres. A highly specialised EDS service is in place to diagnose difficult and complex EDS cases at two centres in England; London North West University Healthcare Trust and Sheffield Children’s NHS Foundation Trust. NHS England’s Service Specification for Complex EDS can be found on its website. EDS is included in the 100,000 Genomes Project.

Building on learning from the 100,000 Genomes Project and the existing provision of clinical genetics services, NHS England is launching a national NHS Genomic Medicine Service in October 2018. The service will include a National Genomic Test Directory for rare and inherited disease which will specify which genomic tests are commissioned by the NHS in England, the technology by which they are available, and the patients who will be eligible to have access to a test. The final draft 2018/2019 National Genomic Test Directory can be accessed on the NHS England website.

The National Congenital Anomaly and Rare Disease Registration Service provides a resource for clinicians to support high quality clinical practice and supports all research into rare diseases.

Steps to increase public awareness of all rare diseases, including conditions such as Ehlers-Danlos syndrome, are being taken through the implementation of the UK Strategy for Rare Diseases. The Strategy includes specific commitments to raise awareness of rare diseases.

General Practitioners are responsible for ensuring their own clinical knowledge remains up-to-date and for identifying learning needs as part of their continuing professional development. This activity should include taking account of new research and developments in guidance, such as that produced by NICE, to ensure that they can continue to provide high quality care to all patients.