, 1974, p. 312). Those actions or conditions which induce stress are referred to as stressors. In any individual life, or in any family environment, stress may produce either positive or negative results.
In the following discussion, the pathophysiological process of Tay Sachs disease is considered. This discussion is followed by considerations of nursing interventions with respect to Tay Sachs disease within the contexts of (1) systems theory, (2) stress theory, and (3) the grieving process.
PATHOPHYSIOLOGICAL PROCESS OF TAY SACHS DISEASE
The pathophysiological process of Tay Sachs disease is discussed in three contexts. These discussions cover (1) carrier detection, (2) physiology and effects of an enzymatic defect, and (3) detection of carriers, and genetic counseling of parents.
Tay Sachs disease is one of a group of genetic diseases "in which the storage of GM2 ganglioside and related glycosphingolipids is due to deficiencies of specific hexosaminidases required for their catabolism" (Behrman, & Vaughn, 1983, p. 478). Tay Sachs disease is GM2 gangliosidosis Type 1 of this group (Behrman, & Vaughn, 1983). It is characterized by a lack of the enzyme, hexosaminidase A, required for the effective utilization of fats (Strickberger, 1976). The resulting accumulation of certain fatty compounds around nerve cells causes a gradual reduction of motor and mental function, and eventual death (Winchester, 1976).
Tay Sachs disease is most prevalent among Ashkenzai Jews tracing their heritage to Northeastern Europe (Scheinfeld, 1972). Although only one in 3,000 offspring show the recessive trait for Tay Sachs disease among this population group, one in 28 carry the gene (Strickberger, 1976). The disease, however, should not be excluded from consideration for either non Jewish or non white children (Behrman, & Vaughn, 1983). Although there is no known cure for Tay Sachs disease, there does ex...