Rare Disease Day, observed annually on the last day of February, is a global initiative aimed at raising awareness about rare diseases and advocating for the rights of individuals living with these conditions. It serves as a platform to highlight the challenges faced by those affected by rare diseases, as well as to emphasize the need for research, early diagnosis, and access to appropriate treatments.
Rare bone diseases encompass a spectrum of uncommon and often genetically inherited disorders that affect the skeletal system, leading to various structural and functional abnormalities in bones. These diseases, such as osteogenesis imperfecta, fibrous dysplasia, and hypophosphatasia, present unique challenges for individuals as they can result in fragile bones, deformities, and, in some cases, life-threatening complications.
The importance of comprehensive diagnostic approaches and tailored management strategies for individuals affected with Rare bone diseases cannot be overemphasized.
The rarity and complexity, of skeletal rare diseases pose significant challenges for both patients and healthcare providers. The impact of these diseases on affected individuals is profound, affecting their mobility, overall health, and quality of life. Due to the limited understanding of many rare bone diseases and the scarcity of treatment options, patients often face difficulties in obtaining an accurate diagnosis, accessing appropriate medical care, and finding support networks.
Rare Disease Day provides an opportunity to shed light on these challenges and foster a sense of community among individuals affected by skeletal rare diseases. By raising awareness on Rare Disease Day, advocates and organizations hope to garner support for increased research funding, improved diagnostic tools, and enhanced healthcare infrastructure to better address the unique needs of those with skeletal rare diseases.
Organisations, Consortia and Consensus working groups such as the International Osteoporosis Foundation (IOF), the Asia Pacific Consortium on Osteoporosis (APCO), and the Global Rare Bone Disease Summit have created platforms aimed to raise awareness and educate healthcare professionals and patients on rare bone diseases.
Alongside its work in furthering the cause of Osteoporosis, APCO is also committed to increasing awareness of RBDs amongst healthcare professionals. It is with this aim that we are dedicating an entire afternoon to the discussion of RBDs at our APCO SOOMBODS 2024 meeting that will be held in Singapore from May 17-19 2024.
To drive home our commitment to this neglected field, we have also launched the APCO CICCDP. APCO’s Collective Intellect Clinical Case Discussion Platform (CICCDP) aims to create a platform for doctors across the Asia Pacific to share clinical cases in osteoporosis/metabolic bone disorder that are challenging and for which they would like to seek management input. The platform is structured around real patient cases (deidentified) that practitioners present, and an expert panel (2-3 panelists per session) will provide input based on evidence-based best practices and treatment protocols. Through CICCDP we hope to generate a community of care providers who are exposed to a variety of metabolic bone disorders, and equipped with the knowledge to provide the right care. The sessions are recorded for viewing by our participants. Click here to learn more about APCO CICCDP and register.
The Global RBD Summit that was held in December 2021 and brought together key stake holders from the clinical, academic, and patient communities as well as the pharmaceutical industry, facilitated dialogue and information exchange between these representatives to advance knowledge and awareness of RBDs and improve patient outcomes. The proceedings of this unique summit were published in the June 2023 issue of Osteoporosis International. A Plain Language Summary (PLS) of the paper is now in the process of creation and will help to narrow the gap in communication between healthcare professionals and patients. Prof Manju Chandran, Chairperson of APCO, and the first author of the publication commented “ Now that the seeds of change have been laid, the next step is to ensure that major bone conferences around the world should incorporate discussions on RBDs, existent best practice guidelines should be collated , an organogram of RBD patient organizations should be developed, and more educational materials to increase knowledge of presenting clinical features of RBDs should be created. These steps will go a long way to put RBDs firmly on the map of metabolic bone disorders”.
Alongside these organizations and consortia, various consensus working groups have come together to develop clinical practice guidelines on rare bone disorders such as X Linked Hypophosphatemia. Two such recent guidelines include the Asia‐Pacific Consensus Recommendations on X‐Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care, and the Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia. APCO was involved in the development of both these consensus statements through the representation of Prof Manju Chandran.
