?My crooked vision?: The well sib views ataxia-telangiectasia

Abstract

The ataxia-telangiectasia gene (designated ATM) has been identified by positional cloning. Retrospective studies in cystic fibrosis (CF) have shown that the illness and death of a sib have far-reaching ramifications on the surviving sib's life. However, there have been no studies on sibs of children and adults with ataxia-telangiectasia (A-T). Thirty-five sibs from 24 families, including 26 adults and 9 adolescents, were drawn from the University of California, Los Angeles; the A-T Clinical Center at the Johns Hopkins University School of Medicine; and the A-T Children's Project Interviews indicated that, unlike CF, the visibility of A-T caused less resentment of time or attention given to the affected, less guilt, and less identification or idealization of the affected, but more embarrassment and shame. It may be said that, unlike CF, the dynamic is one of burden rather than trauma. The specific phenotypic expression of a genetic illness predisposes the way in which the well sib will encounter problems. In A-T affected families, one must help families locate caregiving resources so they will not burden their well children; sibs need help with managing feelings of embarrassment and shame. Geneticists must be alert to understanding characteristic differences of disorders they encounter in order to offer the most appropriate support to affected families.

Parental Communication and Experiences and Knowledge of Adolescent Siblings of Children with 22q11.2 Deletion Syndrome

“…In general, siblings who participated in this study seemed to have a good understanding of their brother or sister's genetic condition as the condition affected their daily lives. Consistent with other studies (Fanos 1999;Graff et al 2010;Graff et al 2012;Read et al 2011), most siblings learned about the condition from their parents. With parents being the primary source of information for siblings, it is important that parents feel equipped to share information regarding the diagnosis of 22q11DS and that health care professionals educate parents toward this goal.…”

“…Due to the lack of empirical data in this area for 22q11DS, we examined literature on the experiences of siblings of children with other genetic conditions including Down syndrome, autism, Duchenne muscular dystrophy, fragile X syndrome, and other conditions that result in cognitive and/or physical impairment in children. These siblings most often remembered learning about their brother or sister's condition from their parents (Fanos 1999;Graff et al 2010;Graff et al 2012;Read et al 2011), with parents gradually revealing information as the maturity of the child increased (Metcalfe et al 2008). Information related to genetic risk and heritability was selectively shared (Fanos et al 2001;Plumridge et al 2011) with some parents not wanting to discuss this information until reproductive ages (McConkie-Rosell et al 2002;Plumridge et al 2011).…”

Living at Risk: The Sibling's Perspective of Early‐Onset Alzheimer's Disease

“…Very little is known about how brothers and sisters respond to a siblings' disease. Studies of adults who have lost a sibling in childhood to cystic fibrosis, ataxia telangiectasia, or Xlinked severe combined immunodeficiency have uncovered many inaccurate beliefs about genetic inheritance, feelings of guilt and burden, and communication barriers between family members (Fanos 1999;Fanos and Gatti 1999;Fanos and Johnson 1995;Fanos et al 2001). For an individual whose sibling is affected with Alzheimer's disease, these responses could be complicated by physical or emotional distance between siblings, assuming the role of caregiver, and the additional responsibilities that come with adulthood, such as work and family.…”

“…Social stigma has been associated with several neurological and psychological conditions and can impair an individual's and a family's ability to talk about a disease and how it is inherited. A lack of communication may lead to myths, misconceptions, or ignorance of the risk for developing the condition (Fanos 1999;Fanos and Gatti 1999;Fanos and Johnson 1995;McAllister et al 2007). This could potentially interfere with the difficult or painful task of talking about a genetic risk in the family or with communicating needs as a caregiver.…”

The Sibling Center: A Pilot Program for Siblings of Children and Adolescents with a Serious Medical Condition

“…3,16,17 Family Communication Many families with a chronically ill child tend not to communicate about the disease. 11, [18][19][20][21][22][23][24] The demand of keeping a family secret is a heavy burden for a young sibling and can threaten healthy development. There is often much anger expressed at parents as a consequence of feeling excluded from disclosure.…”