What is it like living with X-linked hypophosphatemia?: results from an Australian consumer survey

X-linked hypophosphatemia (XLH) is a rare, X-linked dominant condition with a high burden of both physical and psychosocial disease. This study aimed to describe the experience and burden of disease for children and adults living with XLH in Australia by inviting affected individuals and their carers to complete an online questionnaire. Of the 46 responses, half were completed by a person with XLH, and half by carers. Thirty percent were male, 33% were aged less than 18 yr. Median age at diagnosis was 2 yr (IQR 1.5-3.0). There was a high burden of surgical intervention: 59% reported 5 or more surgeries and 33% (15) had major dental procedures. Bone deformities and painful bones/joints were rated as the most impactful symptoms for both children and adults with XLH with 54% of participants rating emotional and physical burden of disease as equally impactful. Participants reported experiencing many psychosocial and financial challenges, including mental health disorders (including depression, anxiety, suicidal ideation, and self-harm), discrimination, and social isolation. Seventy percent reported it was difficult or very difficult living with XLH. Over 80% percent strongly agreed that lack of XLH awareness impacts on support services and health funding and agreed or strongly agreed that it is hard living with a condition that most Australians have never heard of. X-linked hypophosphatemia imparts a high physical, emotional, psychosocial, and mental toll on affected individuals. While the most impactful reported symptoms were musculoskeletal features, this survey emphasizes the degree of social and psychological challenges that individuals with XLH face. Some of these difficulties appear to be worsened by a lack of awareness. Patient advocacy and improving knowledge of rare diseases such as XLH is a key role of health professionals and should improve overall experience for affected individuals.