Experiences of parents with children with congenital disorders of glycosylation: What can we learn from them?

Background: Congenital disorders of glycosylation are a group of rare metabolic, genetic diseases that cause severe cognitive and physical impairments. Owing to the rarity of this condition, the experiences of these parents are poorly understood. Objective: This study aimed to explore parents’ experiences of caring for a child or young adult with congenital disorders of glycosylation. Methods: Semi-structured interviews were conducted with 33 parents from 11 countries by teleconference to assess their experience of parenting children with the stated condition. Through thematic analysis, combining deductive and inductive strategies, we identified common themes across the interviews regarding the initial stage of diagnosis and the current experience. Results: Parents reported many difficulties in managing the disease and its consequences, mainly related to the condition's management and the child's well-being, focusing less on their own burden and distress. Receiving and adapting to the diagnosis was described as a strenuous and highly emotional process, with parents facing a lack of medical knowledge and difficulty in accessing competent health providers. Regarding the experience of parenting a child with congenital disorders of glycosylation, participants’ concerns focused on the child and were related to promoting the child's development and autonomy and finding adequate health and educational support. Participants identified several support strategies. Relevant patient associations provided critical informational, instrumental, and social support. Conclusions: Results point to parents’ need to receive support from informed healthcare and educational providers that recognize their unique challenges and multiple needs.