Never again joy without sorrow: the effect on parents of a child with ataxia-telangiectasia

The purpose of this study was to explore the impact of having a child with ataxia-telangiectasia (A-T) as well as to assess parental understanding of the genetics of A-T and attitudes toward carrier testing. Sixty-eight parents of individuals with A-T were interviewed. Ninety percent of the parents correctly believed if there is a child with A-T, both are obligate heterozygotes. Only 9% knew each well sib had a two-thirds chance of being a carrier. Eighty-four percent would have their unaffected child tested for carrier status prior to age 18 years. Eighty-two percent believed heterozygosity is associated with increased health risks. We offer the following recommendations. 1) Physicians must realize that communicating the possibility of early death is difficult; parents need guidelines so they know what to expect, but diagnosis should not be a death sentence. Clinicians should stress individual variations in expression of the disorder and offer hope for future progress in treatment. 2) Parents underestimated carrier risks for the well sib and the frequency of carrier status in the general population. Although these distortions are self-protective, they interfere with transmission of accurate genetic information to their children. Parents should be referred to genetic counseling. 3) Psychological counseling should be offered to families at the time of diagnosis so parents can support each other, the affected, and unaffected offspring.