THE IMPACT OF INFANTILE AMAUROTIC FAMILIAL IDIOCY (TAY-SACHS DISEASE) ON THE FAMILY

Abstract

Although in its sociologic implications infantile amaurotic familial idiocy (Tay-Sachs disease) bears some resemblance to other types of fatal illnesses in children, such as leukemia,1 muscular dystrophy2,3 and some forms of brain deficit,4 it is unique in several respects. The illness makes its appearance early in life, there is usually a period of uncertainty as to diagnosis, its course is steadily downward without periods of remission, it is of comparatively short duration, and it is hereditary. A fatal hereditary disease in an infant bears with it a large number of reactions and decisions, which involve an ever-widening circle of persons. Not only is there an invariable emotional effect upon the parents, but, as will be indicated in this report, close relatives, friends, neighbors and associates are to some extent also concerned. The disease represents a family crisis, and it is the purpose of this study to report and assess the major methods with which families cope with the crisis, the problems they face, the solutions they undertake, and the help we may be able to offer. Moreover close and prolonged contact with the parents of infants with amaurotic familial idiocy has given us many opportunities to observe the physician-parent relationship that develops during this illness. We are impressed with the need to understand the parental problems, and we hope to make suggestions to the physician confronted with this illness. FAMILY BACKGROUNDS The study is based upon interviews with parents of children who have or have had amaurotic familial idiocy. (Two of the families have had children with lipid histiocytosis of phosphalide type, also called Niemann-Pick disease.)