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.