The purpose of this research is twofold. First, an overview is provided of the physiology of the inborn error of lipid metabolism of Tay Sachs disease. Second, nursing interventions with respect to Tay Sachs disease considered within the frame work of systems and stress theory.
Tay Sachs is a neurologic degenerative disease resulting from the abnormal storage of lipids (Nyhan, 1980). The mean age of diagnosis approximates eight and one half months, which is often up to three months after parents "first noticed that something was wrong" (Paritszk, 1985, p. 261). Tay Sachs disease results in both mental and motor retardation, and in death by ages two to four years (Strickberger, 1976).
The common definition of a system is "an aggregate of elements considered together with the relationships holding among them" (Angyal, 1986, p. 20). In this sense, a system any be considered "as any entity, conceptual or physical, which consists of independent parts" (Ackoff, 1986, p. 332). Systems may be either closed or open. A closed system is one which "does not depend on its environment; it is autonomous, enclosed, and sealed off from the outside world. It has all the energy it needs, and can function without the consumption of external resources" (Daft, 1986, p. 10). By contrast, an open system is one which "must interact with its environment to survive; it both consumes resources and exports resources to the environment. It must continually change and adapt to the environment" (Daft, 1986, p. 10).
For many years, stress has been recognized by the medical and psychological communities as a major contributor to the onset of significant physical and mental health problems (Maes, Vingerhoets, & Heck, 1987; Hinkle, 1987). Stress is defined as "a state of tension, strain, or pressure" (Selye, 1974, p. 312). It is a "normal reaction resulting from the interaction between an individual and the environment" (Selye...