Burden of caregiving of individuals with GM1 and GM2 gangliosidoses in the United States: a qualitative study

TL;DR

This study explores the challenges faced by caregivers of individuals with GM1 and GM2 gangliosidoses, highlighting the emotional, physical, and financial burdens they experience.

Contribution

The study provides new qualitative insights into the caregiving experiences and impacts for individuals with GM1 and GM2 gangliosidoses in the U.S.

Findings

Caregivers reported significant psychological and physical burdens, along with financial difficulties.

Primary caregiving responsibilities included activities of daily living and symptom management.

Caregivers emphasized the need for better disease awareness, financial support, and disease-modifying treatments.

Abstract

GM1 and GM2 (Tay–Sachs and Sandhoff diseases) gangliosidoses are rare, autosomal recessive, potentially life-threatening, disabling disorders characterized by progressive neurodegeneration, with no disease-modifying treatment. This qualitative study aimed to understand the humanistic burden of GM1 and GM2 gangliosidoses from caregivers’ perspectives by expanding knowledge on the day-to-day responsibilities of primary caregivers and the impacts experienced while providing care and support.

Focus groups (90-minute duration) were conducted with caregivers (≥ 18 years) under three separate categories based on the age of the individuals with GM1/GM2 gangliosidoses either in-person (attending Annual National Tay–Sachs & Allied Diseases Association [NTSAD] Conference, Colorado, July 2022) or online (recruited through the NTSAD and Cure GM1 Foundation during November–December 2022).

This study included 29 primary caregivers (mean [range] age: 49.0 [37.0–75.0] years) of individuals (children [24.1%], adolescents [31.0%], and adults [44.8%]) diagnosed with juvenile/late-onset GM1 (41.4%) or GM2 (58.6%) gangliosidoses. The caregivers reported that most individuals required mobility aids (64.3%) and experienced speech difficulties (83.3%); they described their caregiving responsibilities as non-stop, pervasive, and often done without additional support, with marginal variance by disease type or patient age. Supporting activities of daily living was the most prominent responsibility (90.0%), followed by symptom/care management (69.0%), ensuring quality of life (45.0%), and maintaining emotional (24.0%) and physical (10.0%) well-being. Caregiving impacted every facet of life; the caregivers reported 25 different impacts, with constant psychological burden (82.8%), physical ailments/strain (62.1%), anxiety/fear/worry (58.6%), financial difficulties (58.6%), limited time for other family members (55.2%), and limitations on relationships outside family (51.7%) having the most significant effects. The caregivers relied mostly on patient advocacy organizations for resources and expressed the need for financial support, broader disease awareness, and disease-modifying treatments. Although providing care and support deleteriously impacted caregivers’ lives, they reported experiencing positive impacts on relationship building, personal development, family cohesion, community support, and life outlook.

This study showed a substantial humanistic burden with long-term impacts among the caregivers of individuals with GM1 and GM2 gangliosidoses. The findings provide important insights to enhance clinical care while advocating for the resources needed to improve caregivers’ and patients’ lives.

The online version contains supplementary material available at 10.1186/s13023-025-04030-6.

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