Mutations in the KCNJ11 gene encoding Kir6.2 are the most common cause of neonatal diabetes. Although clinically ‘insulin dependent’ these patients may respond to oral sulphonylureas. Families' experiences of coping with the condition and the impact of transferring from long-term insulin to sulphonylureas have not been explored.
This study aims to increase understanding of having a child with neonatal diabetes caused by a mutation in the KCNJ11 gene.
In-depth interviews were conducted with parents of 11 UK patients with KCNJ11 gene mutations during 2004–2005. The patients had a median age of 13 years (range 0.5–57 years). Qualitative methodology was used to gain an in-depth understanding of the experiences from diagnosis of diabetes to present day. Interviews were audiotaped, transcribed and subjected to thematic content analysis.
Three key categories were identified: i) difficulties managing diabetes in a baby/young child — highlighting the constant care required and impact on family relationships; ii) recognition and implications of learning difficulties and muscle weakness; iii) impact of transfer from insulin to sulphonylureas — including effect on lifestyle, learning difficulties and glycaemic control.
Having a baby with neonatal diabetes is exhausting and places additional strain on families. Mothers acknowledged feeling overprotective. Before genetic diagnosis learning delay and diabetes had not been related, but had implications for future independent living. Transfer to sulphonylureas greatly improved diabetes control and reduced incidences of hypoglycaemia; this enabled families to normalise the condition and reduced social stigma. Sulphonylurea treatment transformed quality of life for the children and their families, who were able to view the future more positively. Copyright © 2006 FEND.