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More than 7,000 rare diseases (RDs) exist worldwide, affecting approximately 350 million people, out of which only 5% have treatment. The development of novel genome sequencing techniques has accelerated the discovery and diagnosis in RDs. However, most patients remain undiagnosed.

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.