Objective: To describe the perspectives of patients and their family on quality of life (QoL) in North Sea- Progressive Myoclonus Epilepsy (NS-PME).

Background: NS-PME is a debilitating, childhood-onset neurological condition caused by homozygous mutations in the GOSR2 gene. Patients present with ataxia around the age of 2 years, followed by the onset of progressive myoclonus and epilepsy. Most patients are wheelchair bound around their teenage years. Previous QoL data in NS-PME revealed a disability paradox with low physical functioning and high emotional wellbeing. Here, we aim to explore important contributors for QoL that are not fully captured in conventional QoL questionnaires.

Method: Semi-structured interviews were conducted with both patients and their family members. Transcripts were analyzed using ATLAS.ti to conduct a thematic analysis.

Results: In total, 10 NS-PME patients (12-37 years; 2f) and 18 family members (n=17 parents; n=1 sibling) were interviewed. Nine themes emerged from the coded interview data, merged into three domains:

1. Patient remains human too: well-being of the patient,

2. Life is all about NS-PME: well-being of the family, and

3. Coping.

For all patients it was reported that they are continuously dependent on the help of others, expressing the desire for more independence in daily life. Having socialization and personal fulfilment were also mentioned as important contributors of QoL.

Parents reported a large emotional burden, with feelings of exhaustion, an always-on feeling and ongoing worries about the wellbeing of their child. Family members also expressed frustrations with regards to bureaucracy for arranging medical facilities. Patients and family members reported overlapping features in coping with life with NS-PME: not knowing any better than having NS-PME, having a positive and ‘can-do’ approach and living day by day.

Conclusion: To improve QoL in NS-PME, more attention should be paid to personal fulfilment, socialization and autonomy; all related to having more independence. Additionally, attention should be paid to the impact of NS-PME on the family; whom experience a large emotional burden. Lastly, a principal positive contributor for QoL not captured in conventional questionnaires, are the adaptability and positively minded coping of NS-PME patients and families.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/if-you-cant-beat-them-join-them-a-patient-and-family-perspective-on-quality-of-life-with-north-sea-progressive-myoclonus-epilepsy/