Rare bone diseases, including many skeletal dysplasia and metabolic bone diseases, can cause significant disabilities to the patients due to abnormal bone development. Unfortunately, many of the rare bone diseases are poorly understood and definitive cure is lacking. Even if treatments are available, the cost is usually very high and most patients cannot afford it. Rare diseases are poorly understood by the patients and the public. As a result, patients do not seek medical attention and the diagnosis may be delayed. Patients may sometimes need to consult different hospitals before their diagnosis are made and proper treatments are given. Apart from the skeletal abnormalities, these rare diseases may affect multiple organs. Many of the rare bone disease patients usually require multidisciplinary teams and multiple hospital visits in treating their medical problems.
The University of Hong Kong - Shenzhen Hospital has established a multidisciplinary platform for patients with rare bone diseases since 2015. Through the one-stop service, their multidisciplinary team can provide a comprehensive care including diagnostics, medical treatments, surgical interventions, rehabilitations, genetic counselling and other various supports by different disciplines for the patients with rare bone diseases. The hospital is an important referral center for patients with osteogenesis imperfecta (OI). OI is one of the 400 types of skeletal dysplasia that lacks curative treatment. OI is a rare genetic disease at which the mutation causes abnormal collagen formation leading bone fragility, long bone deformities and scoliosis. Individuals with OI also have dental, hearing, vision and various medical problems requiring comprehensive holistic care.
Through online public education and patient forums, the hospital plays a very active role in educating the public and patients about rare bone diseases. We also establish hospital referral network for rare bone diseases in the southern part of China so that the patients can be treated promptly.
