APPENDIX 5: PROPOSED DEMONSTRATION PROJECT - THE APPOINTMENT OF A CLINICAL GENETICIST WITH EXPERTISE IN GENETIC NEUROMUSCULAR DISORDERS WITH A PAN SCOTLAND REMIT
Neuromuscular disorders are conventionally thought to be rare and do not figure among the 15 most common disorders presenting to a neurologist. However, in Scotland as a whole these disorders translate into a considerable group of patients, relatives and carers, all of whom require diagnosis, ongoing care, help and advice. These conditions are inherited, slowly progressive with the passage of time and have a major impact on individuals in young adult life and are the cause of considerable disability and handicap in affected patients and their families.
Patients with neuromuscular disease have been traditionally managed by neurologists with a special neuromuscular interest. However, as understanding of this group of disorders has progressed, their diagnosis and management has become more complex, and the need for neuromuscular specialists to effectively diagnose and manage such patients has become apparent. Increasingly, patients are now managed by a specialist in neuromuscular disorders, who may be paediatric or adult neurologists or a clinical geneticist, working as part of a multi-disciplinary team. In England specialist muscle centres are based in Newcastle, Oxford and London. In Scotland, there is currently no clinician with a full-time remit for neuromuscular disorders. There is no specialist muscle centre in Scotland that has a multi-disciplinary muscle team analogous to the English muscle centres. Neuromuscular patient outcomes in Scotland are poorer than in England and data collected from a survey of patients of all ages in Scotland indicated a level of dissatisfaction in a number of areas including access to diagnosis, the explanation and understanding of the diagnosis, awareness of future needs and the resources available, and how to access services and information. In order to address these recognised deficiencies, the Scottish Muscle Network was established in 1999 with the aim of improving the provision of services to neuromuscular patients in Scotland. Initially the coordinator of the Network was funded by the Muscular Dystrophy Campaign but in recognition of the success of this venture the Network received national funding from 2004 onwards. Though success of the Network is acknowledged, its scope is limited as neuromuscular diseases form only a minor component of the workload of the neurologists involved, the key professionals are all based in Glasgow and thus the Network has so far been involved almost exclusively with patients in South and West Scotland
In summary the proposal suggests:
- Appointment of a full-time NHS clinical geneticist with a special interest in neuromuscular disorders for Scotland
- The post to be based 3 days per week in Glasgow and 2 days per week in Edinburgh with neuromuscular clinics held throughout Scotland in conjunction with local adult and paediatric neurology consultants.
- Appointment of a clinician with a remit covering the whole of Scotland allows rationalisation of service protocols, streamlines audit and improves equity of access to modern diagnosis and treatment.
- The pan-Scotland approach, with sessional commitments in the East and the West would complement the Scottish Muscle Network and allow it to function as a Scottish rather than a Glasgow service.
- The model proposed provides truly cross-disciplinary working with support from neurologists and home ventilation anaesthetists who have all voiced support for this venture.
- The model utilises a multi-disciplinary team working model providing leadership for nurse counsellors, physiotherapists etc.