Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network
Cambridge University Hospitals NHS Foundation Trust (CUH)
Cambridge, UK
CUH has 1000 inpatient beds, 40 critical care beds as well as day case and outpatient service and provides an integrated clinical and laboratory service for the diagnosis and management of Inherited Metabolic Disorders (IMDs) predominantly in adults. The diverse range of conditions varies widely in presentation and management and for this reason the service is embedded within a larger metabolic service comprising of a full range of additional clinical teams (including hepatology, cardiology, obstetrics dermatology and neurology), local and national laboratory services (including biochemical and genetic screening/ diagnostics), specialist imaging facilities/staff, research (both clinical and pre-clinical), academia/education and paediatric services. The service has a full multi-disciplinary team including doctors, nurses, dieticians, occupational therapists, physiotherapists, speech therapists, physiologists, neuropsychologists, pharmacists, scientists, technicians and administrators.
Although primarily treating adults we work closely with our paediatric colleagues and participate in planned transition processes. The service is commissioned to treat patients with any of the disorders listed in the metabolic service specification – https://www.england.nhs.uk/wp-content/uploads/2013/06/e06-metab-disorders-adult.pdf however currently case load is currently predominantly lysosomal storage disorders with a range of other IMDs as described in section 7. All patients have access to the following as required:
- Diagnostics: Laboratory services are provided by the biochemical genetics unit – including newborn screening programs. The lab is a member of Metbionet – national metabolic lab network. Genetics services are provided by the East Anglian Medical Genetics Service and we are a centre for the 100,000 genome project. A full range of radiological services are available with specialist staff dedicated to the interpretation of images. Additional diagnostic services available include physiology, cardiology and neuropsychology
- Treatment/long term management: Acute inpatient care for metabolic decompensation and planned surgical interventions. Disease appropriate treatments -including dietary management, oral and (iv) therapies, surgical interventions and provision of individualised emergency management plans. Shared care is encouraged with the service operating as both a primary provider and an expert advisory/on- call service for medical/dietetics/nursing. Home nursing services are commisisoned and managed. Supportive therapies,patient education/days, access to research programs/compassionate access programs. Expert obstetric services. Transition/advisory services with paediatrics (children aged up to 16)
- Family Management: Genetic counselling, psychological support and liaison with patient support groups.
SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPs
- Acute care: CUH can provide multidisciplinary inpatient care for patients with inherited metabolic diseases – this can be for acute decompensation episodes, planned surgical intervention, individualised disease assessment programs, obstetric management and for supportive care. This includes access to intensive care beds for all age groups
- Therapeutic interventions include: dietary assessment, advice and recommendation of essential supplements, oral medication – with specialist pharmacy support, insulin management/pumps – in lipodystrophy, high cost medicine management – for example enzyme replacement therapy, surgical interventions as appropriate – for example experienced colleagues in orthopaedics & anaesthetics, electrophysiology, implantable devices – pacemakers, implantable cardioverter-defibrillator (ICD), transplant services – stem cell transplantation as well as organ transplantation (UK national specialist centre), access to clinical trials as appropriate -phase I –IV with a purpose built facility for early phase trials, system for obtaining compassionate access to treatments
- Supportive interventions: physiotherapy assessment and exercise prescription, feeding management – including PEG/NG (Percutaneous endoscopic gastrostomy/Naso Gastric tube) insertion/feeding, IV access support – patient training and CVAD (Central venous Access Device) insertion/management, pain management – access to specialist pain management services. Referral to palliative care teams locally
- Social interventions: patient education – by patient training days, telephone and face to face encounters, editing patient resources, access to social/financial benefits – assistance with managing claim forms, accessing local services, genetic counselling – for individuals, immediate family and wider family screening, access to pre implantation diagnostics, psychological support, general health promotion – diet, activity, stress management.
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