Given the varied range of neurologic, hepatic and psychiatric symptoms, patients with NPC typically present to a wide range of health professionals including perinatologists, paediatricians, family practitioners, haematologists, gastroenterologists, neurologists, internists and psychiatrists. Both children and adults are usually already under specialist care when diagnosis is confirmed. However, patients with NPC should be referred to regional or national care centres that are specialised in the management of NPC specifically, or inherited metabolic disorders generally, for long-term management .
Specialist care centres can provide comprehensive, integrated, multidisciplinary care for patients, as well as information and support for family members, as they aim to incorporate networks of all relevant medical disciplines within the core team. They have effective links with national networks of testing laboratories and other care centres at the national and international level, and have important roles in disease auditing and the maintenance of geographical coverage. Metabolic nurses play vital roles in the day-to-day running of clinics, and deal with many of the familial aspects of work with patients and family members. Physical therapists, speech therapists, occupational therapists and disease counsellors should also all be involved in supportive care for patients.
A prime concern amongst voluntary, patient-focused organisations is the need for increased awareness among general health practitioners regarding the symptoms, diagnosis and management of NPC. In some cases, initial health services can do “more harm than good” if there is a lack of any specialist knowledge or expertise. It has been estimated that less than half of patients with an inherited metabolic disease are currently being looked after through specialist care centres,1 partially due to a general reluctance to refer, but also through a lack of local resources.
1. Burton H. Metabolic pathways Networks of Care: A needs assessment and review of services for people with inherited metabolic disease in the United Kingdom. Public Health Genetics Unit, 2005: available at www.phgfoundation.org/. Accessed 28th May, 2009.
© 2007 Blackwell Publishing Limited. Reproduced by permission.