Support for families with children with a rare degenerative metabolic disease

Background 

Juvenile NCL (JNCL, NCL type 3, Batten disease) is a degenerative metabolic disease. JNCL causes children to lose their vision at primary school age. At that moment often learning and behavioral problems exist as well and increase as the disease progresses. Children with JNCL have an average life expectancy of no more than 23 years. The disease and accompanying behavioral problems and emotions have a significant impact on the child with JNCL and their family's (quality of) life. There is a need for adequate support of children and parents with respect to these problems.
 

Objectives 

The objective of the project is to provide better care and support for families with a child with JNCL. The project consists of two parts. Study 1 focuses on developing a support module, consisting of treatment and support advice specific to the behavioral problems associated with JNCL. This will combine the knowledge from the previous datamining study (ZonMW 2020 project number 8450061 06) with the knowledge of parents and professionals. Study 2 will evaluate the support module and implement it with necessary improvements in the structural care of Bartiméus and Visio.
 

Research Design 

• Study 1: Information will be collected using the Delphi method, a qualitative research design. In a Delphi study, a group of experts is asked to provide information and a group opinion on a specific theme. After each input round, a summary of the opinions is given. This process is stopped when consensus is reached. Questionnaires will be used to obtain information from the participants. 
• Study 2: Information will be collected through qualitative case studies. In-depth interviews with parents of a child with JNCL will map their experience with the support module. Open questions about the elements of the support module will explore if and how this support module contributes to the experienced support. The module will then be adjusted based on the findings of this research.
   

Target Group 

Families with a child with JNCL receiving care and support from professionals at Bartiméus and Visio. The research involves both parents of children with JNCL and professionals (medical doctors, social workers, itinerant teachers, clinical psychologists, paramedics). Exclusion criteria: Children with a severe condition unrelated to the JNCL diagnosis and/or a family member with a severe illness or demanding mental health issues for the family.

Results

Based on the knowledge from the previous datamining research and the expertise of parents and JNCL experts from the Delphi study, a checklist has been developed as part of the support module for emotions and behavior. This checklist focuses on providing practical advice for supporting emotions and behavior in a child with JNCL, including which tools are suitable and what treatment options are available. In addition, advice is given on supporting parents, including psychological and emotional support, assistance in dealing with their child, practical support, and how to adapt to the stage of the disease and the parents' process. The checklist also addresses the support for siblings of children with JNCL. 
 

Parents in the study express a need for knowledge about the disease and a psycho-education program. This psycho-education is an important integral component of the support these families require. The pilot of the case study provides advice on the practical implementation of the support module.
 

Discussion

In this research a checklist is developed for families with JNCL. This checklist can be used as a blueprint for guiding families of children with a degenerative disease. It is recommended to apply this blueprint in the development of other parts of the JNCL support module, such as a psycho-education program.