My A–T pack: a qualitative study of the utility, acceptability, design, and content of a family-designed and owned information pack relevant to the lives of children and young people living with ataxia telangiectasia

TL;DR

This study explores the design and usefulness of a family-managed information pack for children and families living with ataxia telangiectasia, a rare genetic condition.

Contribution

The study introduces a family-designed healthcare pack to improve information management and communication in the care of children with ataxia telangiectasia.

Findings

Families highlighted the need for a centralized resource to manage and share information about ataxia telangiectasia care.

Children preferred a magazine-style booklet, while parents favored an electronic format for the pack.

The pack could help families communicate more effectively with healthcare professionals and manage symptoms.

Abstract

Ataxia telangiectasia (A–T) is a rare genetic and progressive condition, primarily affecting the neurological, immunological, and pulmonary systems. In the absence of a cure, people living with A–T require co-ordinated multidisciplinary care to manage their complex needs. This often leads to families working with a range of different professionals and feeling burdened by the amount of information and coordination of care that they manage.

With the aim to inform the co-production of a family-owned healthcare pack to promote person-centered care and self-management, this study explored the views of children with A–T and parents of children and young people with A–T about the utility, acceptability, design, and content of this pack.

A total of two children and eight parents participated in one pilot interview and three focus groups. Using the Framework Method of analysis, three themes were generated offering an insight to the range of participants’ views. The first theme, ‘accessing, managing, organising, and sharing information with others’, broadly highlighted the need for a pack as a valuable resource in the absence of coordinated care and a centralised system of record keeping and information sharing. The second theme, ‘pack content’, suggested that the pack may serve the dual purpose of storing and retrieving information and helping to communicate and work with other professionals. The third theme, ‘design features’, investigated the design of the pack and the differences in the views of children who wanted the pack to look like a magazine style booklet, and the parents who preferred an electronic pack or an app.

This study is an important contribution to the current understanding of the experiences of care and management of A–T from the point of view of children with A–T and their parents. Families with a child with A–T struggle with communication and information sharing across and between different professionals. My A–T Pack is a step towards providing families a viable resource for effective record keeping, symptoms management, and information sharing with relevant professionals involved in the care and management of their child's condition.

The online version contains supplementary material available at 10.1186/s13023-025-03919-6.