The Impact of a Diagnosis among Parents of Children with Severe, Progressive, Life-Limiting Diseases (Poster)

The Impact of a Diagnosis among Parents of Children with Severe, Progressive, Life-Limiting Diseases (Poster)

Romines V; van Karnebeek C; Siden H; Adam S; Birch P; Andrews G

2018

Background: Children affected by severe, progressive life-limiting diseases experience a variety of symptoms and disease trajectories that are not well understood or described. Many of these children do not have a specific medical diagnosis, but are assigned a broad diagnosis that simply describes a cluster of their symptoms (e.g. “Severe Epilepsy”). Parents of these children may experience exclusion from their community, and feelings of helplessness, because their child does not have an “explainable” disease.
Aim: The objective of this study is to examine the impact of a diagnosis on the parents of children with severe, progressive, undiagnosed conditions, who were eligible for genetic testing.
Method: Eligible children had neurological impairment, limited communication, full-time caregivers and typically mobilized in wheelchairs. Children ranged in age from 5-20 years, with an average age of 11.5, and the average number of years since their symptoms first appeared was 11.2 years. Six parents were given a semi-structured interview by a genetic counselor in order to further understand their experience with their child’s condition and how reaching a diagnosis might impact their life and their child’s life. The parents were also given the opportunity to participate in genome-wide sequencing to potentially achieve a specific diagnosis for their child. The interview data was transcribed and coded into themes using the grounded theory approach.
Results: Five out of six of the parents interviewed felt a diagnosis for their child was of no, or very little, importance. All six parents felt school resources would not be impacted by a diagnosis and five of the parents felt community support would not be impacted either. The most influential reason to pursue a diagnosis was the chance to be better prepared for the child’s future and to gain insight into the future trajectory of the child’s condition. This reason was presented by all four parents who decided to subsequently undergo genome-wide sequencing.
Conclusion: Further research should look into comparing the parents’ experiences between younger children and older children to see if there is a greater level of acceptance associated among parents of children who have been affected for a longer time.

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