Abstract
X-linked hypophosphataemia (XLH) is a rare genetic disorder that leads to rickets, osteomalacia, and other skeletal abnormalities. Many people with XLH get support from informal caregivers, often family members, to help with their daily living. Although generally rewarding, being a caregiver can be associated with extra physiologic, physical, and mental health burden which is poorly researched and understood. This study aims to investigate the quality of life of people with XLH who are also caregivers of relatives with XLH. To do this, we conducted a cross-sectional study to characterize the quality of life of caregivers using both a caregiver-specific and a generic quality of life questionnaire, examined the association between the instruments for caregivers, and compare the generic quality of life between caregivers and matched non-caregivers. We used data from the Rare UK Diseases Study (RUDY) whose platform allows for people with XLH to record their own characteristic and outcomes measures, including the Caregiver oncology quality of life questionnaire (CarGOQoL) and the generic EQ-5D. Caregivers and non-caregivers with XLH were matched on gender and age. Caregivers (n = 13) report not feeling burdened or seeing their self-esteem impacted by proving care, but their private life, leisure, and psychological wellbeing were affected. They report worse quality of life than the UK general population. CarGOQoL and EQ-5D were highly correlated (p < .001). Caregivers of people with XLH reported better quality of life than non-caregivers in all EQ-5D dimensions except for Anxiety/Depression (EQ-5D score of 0.467 vs. 0.356 for non-caregivers). Our findings must be interpreted with caution given the small sample size although they are consistent with the literature. Caregivers play an important role in supporting the everyday life of those they look after. This role should be recognized, and helpful information and tools made available to support them in that process.
Lay Summary
X-linked hypophosphataemia (XLH) is a rare genetic disorder that causes bone problems. People with XLH often rely on family members for support. Although rewarding, caregiving can also lead to physical and mental stress, which hasn’t been well-studied. This study looked at the quality of life of people with XLH who also care for relatives with the same condition. Data from 13 caregivers in the UK show that they didn’t feel burdened, but their personal lives and mental health were negatively affected. They reported better quality of life than non-caregivers in most areas. The study highlights the crucial role caregivers play.
Accepted manuscripts
