A hereditary disorder in the family and the family life cycle: Huntington disease as a paradigm.
The implications of predictive DNA-testing for Huntington's Disease (HD) for the transitions in the family life cycle are described. HD is a hereditary disorder leading to personality changes, uncontrollable movements, cognitive impairment, and ultimately death in mostly adults. People at risk have the possibility to detect whether or not they carry the disease provoking-gene, but no treatment is available. In this article, we will highlight the complex implications of pre-symptomatic testing by describing six different cases, interpreted by following the theoretical framework of Carter and McGoldrick (see pp. 684). HD interferes strongly with the "normal" transitions in the life cycle. It is not so much the test result itself that may be disrupting, but the changed expectations and possibilities for the future. As a family disease, HD forces its members to cope, one way or another, with disturbing events and untimely deaths. Some families are able to make some transitions, while becoming blocked at other transition points; this may differ between families. Being able to cope with HD in the family for a certain time does not necessarily imply that problems will never occur. Because any family member may eventually need help, it is important to then help the family discover what hinders them from making the transition to the next life stage, and to resolve these issues so that they can move on.
Brouwer-Dudokdewit
A Christine
AC
Department of Clinical Genetics, Leiden University Medical Center, Department of Medical Psychology and Psychotherapy, Erasmus University Medical Center, The Netherlands. bart.brouwer@wxs.nl
Savenije
Anke
A
Zoeteweij
Moniek W
MW
Maat-Kievit
Anneke
A
Tibben
Aad
A
D000223:Adaptation, Psychological; D000293:Adolescent; D000328:Adult; D002648:Child; D005190:Family / Q000523:psychology*; D005193:Family Planning Services; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing / Q000523:psychology*; D006579:Heterozygote; D006803:Human Development; D006801:Humans; D006816:Huntington Disease / Q000235:genetics / Q000523:psychology*; D008016:Life Change Events; D008297:Male; D009426:Netherlands; D010287:Parent-Child Relations; D010375:Pedigree; D014342:Truth Disclosure