OBJECTIVES: Rare bone diseases are a heterogenous group of more than 771 disorders. A framework for a networked service model has been proposed in England for the care of adults with rare bone conditions, who do not currently benefit from multidisciplinary care approaches available to children. XLH is a rare, genetic, progressive, phosphate-wasting bone disorder that starts in childhood and causes skeletal morbidities, stiffness, pain and impaired physical function, which continue through the patient’s life. The objective is to understand the current care of adults with XLH in the UK, to support assessment of any impact of implementing the proposed networked service model framework.

METHODS: A steering committee comprising experts in rare metabolic bone diseases and representatives of people living with XLH developed a survey to understand access to, and quality of, care for adults with XLH. Survey questions were linked to 13 proposed key performance indicators (e.g. correspondence with named clinical leads and care coordinators, participation in multidisciplinary team meetings). The survey was disseminated to clinicians at 22 specialist sites of the NHS England Adult Rare Bone Disease Collaborative Network.

RESULTS: Eleven clinicians responded from different hospitals in England and Scotland. Among the respondents, 73% confirmed that a named clinical lead for the service was highlighted on patient correspondence. Only 18% of hospitals had a formal care coordinator working across specialties but 73% had a transitional care pathway with named clinical leads. Most respondents (82%) participated in multidisciplinary team meetings. All sites provided genetic counselling and diagnostic services from a clinical genetic specialist in the hospital trust or regional network.

CONCLUSIONS: This survey highlighted inconsistencies in healthcare resource and service infrastructure, a risk factor for inequality of healthcare provision. The resource and infrastructure of services directed to the care of people with XLH should be addressed.