Introduction:
Thymidine kinase 2 deficiency (TK2d) is an ultra-rare, genetic, mitochondrial disease, associated with progressive, life-threatening myopathy that affects motor function, breathing and feeding. The aim of this study was to characterize the experiences of patients with TK2d and their caregivers. Caregiver findings are presented here.
Methods:
Caregivers of patients with genetically confirmed TK2d were invited by global mitochondrial disease patient groups, to complete an online mixed-methods survey (from September 2023 to February 2024). The survey comprised multiple-choice and open-text questions exploring caregivers’ experiences and how caregiving affects their quality of life (QoL).
Results:
Sixteen caregivers (11 parents) from nine countries participated; most (n=15) cared for patients with age of TK2d symptom onset of ≤12 years (13 patients were living; median age [range]: 13 [2–48] years). Most caregivers (n=11) spent ≥75 hours/week caregiving (n=7, ≥100 hours/week), including those employed full time (n=5); others spent <12–74 hours/week caregiving (n=5). Although most caregivers were employed full or part time (part time, n=8), work pattern/role adjustments were common. Four caregivers received professional in-home support.
The QoL domains that were most negatively affected were social/leisure activities (n=13), employment/education (n=12) and finances (n=12). Physical health impacts (n=10), including reduced self-care activities, low energy, lack of sleep and injuries/aches/pains due to caregiving demands, were reported. Mood (n=9) and relationships with friends (n=8) and partners/family (n=7) were also negatively affected.
Caregivers reported that the constant demands of caregiving and minimal support/respite caused persistent stress and emotional burnout. Witnessing loved ones experiencing pain, undergoing invasive procedures and losing independence was distressing. Financial and caregiving strains were compounded by limited funding for care and equipment.
Conclusion:
This survey study supports prior research on the extensive burden and impact of rare diseases on caregivers and helps to characterize the lived experience unique to caregivers supporting individuals with TK2d.
Study funded by UCB.
Disclosures:
Yeske P has nothing to disclose.
Balcells C was an executive director of MitoAction (2006–2016), a consultant for Stealth BioTherapeutics (2016–2019) and the Barth Syndrome Foundation, and a contractor for Zogenix Inc., and is an employee and shareholder of UCB.
Hareendran A was an employee of UCB at the time of the study.
Lambert J is an employee and shareholder of UCB.
Morrison A is an employee of Rare Disease Research Partners, providing professional research services to UCB.
Ross M is an employee of Rare Disease Research Partners, providing professional research services to UCB.
Waller K has nothing to disclose.
Karaa A receives consultation fees from UCB.