ORCID

Abstract

BackgroundAtaxia 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. ResultsA 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. ConclusionThis 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.

Publication Date

2025-08-04

Publication Title

Orphanet Journal of Rare Diseases

Volume

20

Issue

1

ISSN

1750-1172

Acceptance Date

2025-07-11

Deposit Date

2025-08-11

Funding

This study was funded in full by Action for A-T, Registered charity: 1145303.

Keywords

Ataxia telangiectasia, Cerebellar Ataxia, Multidisciplinary management, Multidisciplinary care, Patient held health records, Patient held notes

First Page

397

Last Page

397

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