A Hereditary Disorder In the Family and the Family Life Cycle: Huntington Disease as a Paradigm

Abstract

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.

Predictors of quality of life in carers for people with a progressive neurological illness: a longitudinal study

“…For example, the symptoms of MND can often escalate rapidly [32], and this illness is usually fatal within three to 10 years after symptom onset [33], with a median duration of 3.5 years from onset of symptoms [34]. HD families have the concern of dealing with the genetic origins of HD [35]. These two illness characteristics are likely to place a major burden on carers and to impact negatively on their QOL.…”

Families’ experience of oncogenetic counselling: accounts from a heterogeneous hereditary cancer risk population

“…Developmental strains emerged, namely through juxtapositions between individual and family life cycle transitions and the genetic counselling timeline. Young adults reported issues concerning family planning, such as marriage or childbearing, emphasising difficulties to achieve developmental goals and anticipating losses related to expectations about the future that genetic illness thwarts [30][31][32][33]65].…”

“…The interactional system between the individual, the family and the genetic illness timeline assume particular clinical significance. Transitional changes concerning the carrier status, symptoms onset or decision making regarding prophylactic interventions are psychologically challenging [30,31]. In fact, ambiguities and uncertainties of threatened futures when considering genetic testing or confirmed mutation carrier status are clearly out of synch with those normative expectations which are associated with several life cycle stages, often involving anticipatory loss of personal and family development goals [32,33].…”

Impacto de la enfermedad de Huntington en la familia

“…), y de la etapa en la que se encuentre (inicial, media o final) 16,22,23 . Los roles desempeñados por los miembros afectados son asumidos por otros miembros.…”

“…Estar en riesgo de padecer la enfermedad afecta de manera diferente a las personas: algunas eligen no pensar ni hablar sobre su posición de riesgo, hasta el punto de esquivar a otros miembros de su familia; otras piensan constantemente que están en riesgo y en la posibilidad de desarrollar la enfermedad, lo que puede conducir a comportamientos impulsivos o autodestructivos; y otras son capaces de encontrar un enfoque equilibrado de su posición 15,23 . Estar en riesgo influye en las principales decisiones de la vida, como el matrimonio, los planes familiares y las decisiones profesionales.…”