Management of Hereditary Metabolic Disease

Abstract

Hereditary metabolic disease yields a cumulative patient load requiring diagnosis, continuous counseling and long-term treatment. The current emphasis on mass screening has amplified the rate at which these patients are detected and will require management to prevent harmful expression of the mutation. We have devised a program for in-home care that now serves 64 patients, with 10 different types of genetic disease, in a dense urban region. Two allied health personnel provide 95 per cent of all patient contacts, and perform most of the procedures required to monitor biochemical control and to evaluate the patient's response to treatment. In addition, they provide a form of continuous counseling that prevents unwanted violation of the treatment regimen. The immediate deleterious effects of many of the mutations that we have encountered can be completely offset by this approach. Hospitalization time has been reduced by this program, which costs less than $3 per patient day.