The Expert in the Room: Parental Advocacy for Children with Sex Chromosome Aneuploidies

OBJECTIVE: Owing to fragmentation in the medical system, many parents of children with disabilities report taking on a care coordinator and advocate role. The parental advocacy and care coordination requirements are further amplified in this population because of a lack of awareness about sex chromosome aneuploidies (SCAs) in medical and social services settings, as well as the complex needs of affected children. This burden disproportionately affects mothers and low-resource families as a result of gendered ideas of parenthood and social stratification in resource access. The aim of this study is to understand the unique parental burdens of SCAs and family support needs. METHODS: We conducted 43 interviews with individuals with SCAs and/or their parents and qualitatively coded and analyzed the transcripts for themes relating to parent advocacy, medical services, social and educational services, and coping. RESULTS: Our findings indicate that parents must repeatedly advocate for their concerns about their child to be taken seriously before diagnosis and continue to advocate for services and interventions throughout childhood and adolescence. Parents also report the need to educate health care professionals about their child's medical condition. A majority of the parent participants were women, and single mothers reported high levels of emotional burden. CONCLUSION: Parents of children with SCAs shoulder additional roles of medical advocate and care coordinator. This causes excessive burden on families but also disadvantages families in which parents are unable to act as an advocate for their child.