Rare and often overlooked, osteogenesis imperfecta affects approximately one in 10,000 to 15,000 children at birth. This genetic disorder impairs the production of collagen, essential for skeletal strength, leaving patients prone to repeated fractures, sometimes triggered by simple everyday movements. In France, nearly 5,000 people live with this condition, which affects around one hundred newborns each year.
Recently popularized by the televised story of 11-year-old Héméré, osteogenesis imperfecta (brittle bone disease) highlights a daily life marked by constant vigilance, hospitalizations, and ongoing adjustments. Despite repeated fractures, many children continue their schooling and strive to build as normal a social life as possible, at the cost of close medical and family support.
Care without a definitive treatment
Currently, there is no cure. Management focuses on fracture prevention, functional rehabilitation, orthopedic follow-up, and sometimes the use of medications to strengthen bone density and reduce pain. Psychological support is also crucial, both for children and their families, who are faced with a chronic and unpredictable illness.
Research, however, is progressing slowly. French teams are exploring innovative avenues, particularly in cell and gene therapy, with results considered promising but still experimental. Lacking significant financial interest from the pharmaceutical industry, this work relies heavily on support from associations and philanthropy, essential for maintaining hope for a more effective treatment in the long term.
