RJAH patient and employee begins pioneering therapy for rare bone disease

A long-standing member of staff at Shropshire’s specialist orthopaedic hospital has become one of the first patients at the hospital to receive groundbreaking treatment for a rare inherited bone condition. 

Neville Owens, 57, is a familiar face at The Robert Jones and Agnes Hunt Orthopaedic Hospital, having worked at the Trust for several years as part of the Patient Environmental Action Team.  

He is now one of 15 patients to start burosumab – a newly approved therapy for X-linked hypophosphatemia (XLH), a rare genetic disorder that causes chronic bone pain, muscle weakness and significant mobility issues. 

Neville’s daughter, Holly, who also works at the Oswestry-based hospital, has the same condition and is due to begin treatment shortly after her father. 

The condition, which affects the body’s ability to manage phosphate levels, often leads to severe osteomalacia (softening of the bones). Until recently, treatment options were limited and difficult to tolerate, involving lifelong regimens of phosphate and active vitamin D supplementation. 

Burosumab is a revolutionary treatment that targets the root cause of XLH. Approved by NICE for adults in 2023, the drug works by helping to normalise phosphate levels in the blood – significantly improving pain, mobility and overall quality of life. 

Neville said: “Receiving burosumab marks a new chapter for me and my family. It means so much to know that Holly will soon begin her treatment – it gives us both hope for a better quality of life.” 

Neville’s treatment was made possible thanks to the leadership of Dr Chadi Rakieh, Consultant Rheumatologist and Clinical Lead for Metabolic Bone Disease. In 2022, he launched the Oswestry-based hospital’s dedicated Rare Bone Disease Clinic to provide specialist, patient-focused care for individuals with complex bone conditions. 

Dr Rakieh said: “Historically, adults with rare bone diseases like XLH were seen in general osteoporosis clinics. Setting up a specialist service has allowed us to provide more personalised care and access to the latest treatments, including burosumab.” 

Through Dr Rakieh’s leadership, RJAH is a member of the national Adult Rare Bone Disease Network in 2023. This paved the way for the hospital to gain formal registration as a national centre for XLH treatment by late 2024, following close collaboration with pharmacy and the Drug and Therapeutics Committee. 

The Metabolic Bone Unit is now one of the largest of its kind in the country, with a dedicated multidisciplinary team delivering expert care and contributing to national and international research to advance treatment options in this highly specialised field. 

Stacey Keegan, Chief Executive at RJAH, said: “Offering burosumab here at RJAH represents a significant step forward in the care we can provide to people living with rare bone diseases.  

“Becoming a national treatment centre for XLH reflects the hard work and collaboration across our teams, and our continued commitment to delivering specialist, high-quality care.”