The NHS Highly Specialised Services (HSS) for rare mitochondrial disorders were established in April 2007 to provide a comprehensive high quality NHS service for this rare group of disorders, with centres in London, Newcastle and Oxford. Highly specialised services are provided by the NHS for services with small numbers of patients, such as rare mitochondrial disorders, which are best delivered nationally through a very small number of centres of excellence.
Mitochondrial Disorders are an extremely complex and diverse group of disorders. They can cause virtually any symptom in any organ at any age. Patients may present to a variety of different clinical specialties, and diagnosis is often difficult. Also, many aspects of mitochondrial disease can be helped or prevented by early diagnosis and subsequent care. Therefore, the need for a specialised national service has been recognised by the NHS, with the main objective of improving the diagnosis and clinical care for patients with rare mitochondrial disorders.
The three centres have an international reputation for clinical care and research in mitochondrial disorders, and provide comprehensive specialised services including:
- multi-disciplinary clinical service consisting of genetic counselling and clinical management for adults and children
- diagnostic service for patients with suspected mitochondrial disorders, including analysis of samples referred from local clinicians
- clinical management advice for clinicians
- specialist nursing input for symptom management, advice and support for health and social care issues – signposting, liasing with local health and social care, and advocating on behalf of individuals as required
- specialist physiotherapy assessment and advice – signposting and referring onto local community therapy and social care services as required
- comprehensive information for patients and carers
- national patient forum for education and information including national patient days
- patient access for participation in research to develop new diagnostic techniques and clinical trials to improve the treatment of Mitochondrial Disease.
There are also mitochondrial specialists at other centres throughout the UK, that are not part of, but do have some overlap with, the highly specialised service (for example at Great Ormond Street Children's Hospital and in Cambridge).