On the occasion of World Rare Disease Day, The International Osteoporosis Foundation (IOF) has called for immediate and sustained action to help millions of patients affected by rare skeletal disorders in the world.
According to world health data, there are at least 300 million people living with rare diseases around the world, affecting 3.5% – 5.9% of the worldwide population. Approximately 72% of rare diseases are genetic with 70% of those genetic rare diseases starting in childhood.
Genetic disorders specifically involving the skeletal system represent a significant portion of the known rare diseases, including the more commonly known such as Gaucher’s disease, osteogenesis imperfecta, fibrous dysplasia, hypophosphatasia, osteopetrosis and X-linked hypophosphatemia, among others.
Altogether, more than 430 genetic disorders of the skeleton been identified so far. Because of their diverse signs and symptoms, these rare bone disorders pose a diagnostic challenge even to seasoned specialists, let alone to the average clinician who rarely, if at all, actually sees a paediatric patient with skeletal rare disease.
“Rare diseases suffer from lack of attention at many levels and pose enormous challenges to patients and their families. IOF marks Rare Disease Day as an occasion to call on health authorities to support research as well as improved patient care, including through greater access to diagnosis, novel treatments and long-term support,” said IOF President Cyrus Cooper in a media release.
Recent advances in researchers’ understanding of the mechanisms of rare bone diseases, and, crucially, in the availability of diagnostic methods and effective treatments, offer new hope for many people with rare skeletal diseases.
Professor Cooper added that IOF also reaffirms its commitment to providing targeted healthcare professional training and support for continued research in the field so that new advances can be effectively translated into improved diagnosis and care for patients worldwide.
Rare Disease Day takes place on the last day of February each year. Its main objective is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. Since Rare Disease Day was first launched by EURORDIS and its Council of National Alliances in 2008, thousands of events have taken place throughout the world reaching hundreds of thousands of people worldwide.