Osteogenesis Imperfecta (OI), commonly referred to as brittle bone disease, is a rare genetic disorder characterized by increased bone fragility, frequent fractures, and variable skeletal deformities (Hill et al., 2022). Beyond its physical impact, OI also carries profound emotional and psychosocial implications that shape the daily lives of those affected. Recent research, including the IMPACT survey and studies on patient perspectives in rare bone diseases, has provided deeper insights into the lived experiences of individuals with OI, particularly its broad-ranging effects on quality of life across physical, socioeconomic, and mental well-being domains (van Welzenis et al., 2024; Swezey et al., 2018; Westerheim et al., 2024; Dogba et al., 2013; Hill et al., 2022).
Living with OI is far from just a medical condition; it affects every aspect of life. Patients experience chronic pain, fatigue, and mobility challenges that disrupt their ability to engage in everyday activities. Many individuals describe life with OI as a “full-time job” due to the constant medical appointments, surgeries, and necessary precautions to avoid fractures.
The physical symptoms
The physical manifestations of OI include frequent fractures, chronic pain, and fatigue, which significantly impact daily life. Individuals with OI often experience fractures from minor incidents, such as coughing or slight falls, leading to an unpredictable and challenging lifestyle. Reduced mobility and bone deformities can make even simple tasks like walking, dressing, or cooking difficult, often requiring the use of assistive devices such as wheelchairs, crutches, or custom orthotics. Many individuals undergo multiple surgeries throughout their lives to correct skeletal deformities or strengthen bones with rods, which can lead to prolonged recovery periods and additional physical discomfort. Muscle weakness and joint instability contribute further to movement difficulties, making everyday activities more strenuous and sometimes impossible without assistance. The chronic nature of these symptoms means that individuals with OI must constantly navigate their environment with caution, often requiring adaptations to their homes, workspaces, and modes of transportation to ensure safety and accessibility.
The emotional burden
The fear of fractures dominates decision-making, from simple movements to larger life choices. The IMPACT survey and European patient journey study underscored that individuals with OI frequently experience delayed diagnoses, limited access to specialised care, and inconsistent treatment approaches, which further exacerbate concerns about mobility, employment, and overall well-being (van Welzenis et al., 2024; Westerheim et al., 2024). The IMPACT survey revealed that fracture frequency and severity were key drivers of reduced quality of life, significantly affecting mobility, employment opportunities, and social participation (van Welzenis et al., 2024). Parents of children with OI report living in constant fear, always monitoring their child’s activities to minimize risk. This constant vigilance can lead to anxiety and stress, both for the child and the caregiver. Adults with OI describe the mental exhaustion of always being aware of their physical limitations, with some experiencing a loss of confidence following serious fractures. Many individuals, particularly teenagers, struggle with body image and self-acceptance due to the visible signs of OI, such as short stature, scoliosis, and surgical scars. Adolescence is a particularly challenging period, as many young people feel different due to their limitations in physical activities and social interactions. Boys, in particular, report feeling excluded from sports and rough play, exacerbating feelings of loneliness and frustration.
Bullying and social exclusion further compound these emotional challenges. Many children with OI have reported being left out of activities due to either their own limitations or the hesitancy of others who are unsure how to accommodate them. Adults with OI often recall these experiences and note that the emotional impact lingers well into adulthood, influencing self-esteem and mental well-being. The constant need to navigate a world that is not designed for their unique needs fosters ongoing emotional distress. Addressing these issues requires increased awareness, societal accommodation, and psychological support to help individuals with OI build confidence and integrate more fully into their communities.
People living with OI develop resilience by adapting to their physical limitations, seeking support networks, and utilising medical and psychological resources
Studies emphasise the necessity of integrating patient-reported outcomes in clinical care, highlighting that medical support should extend beyond fracture prevention to encompass hearing loss, respiratory health, and long-term aging concerns in individuals with OI (Swezey et al., 2018; Westerheim et al., 2024). The IMPACT survey also highlighted the importance of targeted interventions, such as structured fracture prevention programs and improved access to specialised healthcare, to mitigate the disease’s long-term effects (van Welzenis et al., 2024). Support groups and advocacy organisations provide emotional reinforcement, practical advice, and a sense of belonging, helping individuals and families navigate the complexities of living with OI. Access to psychosocial support, including counselling and workplace accommodations, plays a crucial role in fostering independence and well-being.
Conclusion
OI affects multiple aspects of life, requiring coordinated medical, psychological, and social support to enhance overall well-being (Dahan-Oliel et al., 2016; Hill et al., 2022). The condition influences daily activities, mobility, and access to education and employment, often necessitating adaptive strategies and long-term care plans. Enhancing healthcare services, fostering societal awareness, and ensuring structured transition programs from peadiatric to adult care are crucial to improving the quality of life and independence of individuals with OI.
Sanofi and ERN-BOND project is about natural history and innovative clinical trial measures (Powered by Sanofi and ERN-BOND)
The project will analyse disease burden and genotype-phenotype correlations using existing data. It will evaluate the patient activity and their quality of life through digital technologies like gait analysis and sensors. The two partners will collaborate with stakeholders, such as regulators and HTA, to enhance patient access to innovative medicines, through early dialogues.
References
| Publication details | Key findings |
| Carrier, J. I., Siedlikowski, M., Chougui, K., et al. (2018). A best practice initiative to optimize transfer of young adults with osteogenesis imperfecta from child to adult healthcare services. Clinical Nurse Specialist, 32(6), 323-335. https://pubmed.ncbi.nlm.nih.gov/30299335/ | Highlights the challenges in transitioning young adults with OI from pediatric to adult healthcare services. Recommends structured transition programs to improve continuity of care and patient outcomes. Emphasizes the need for multidisciplinary collaboration in adult care settings. |in transitioning young adults with OI from pediatric to adult healthcare services. Recommends structured transition programs to improve continuity of care and patient outcomes. Emphasises the need for multidisciplinary collaboration in adult care settings. |
| Dahan-Oliel, N., Oliel, S., Tsimicalis, A., Montpetit, K., Rauch, F., & Dogba, M. J. (2016). Quality of life in osteogenesis imperfecta: A mixed-methods systematic review. American Journal of Medical Genetics Part A, 170(1), 62-76. https://pubmed.ncbi.nlm.nih.gov/26365089/ | Examines quality of life in individuals with OI through a mixed-methods review. Identifies physical, emotional, and social challenges, advocating for holistic support approaches. |in individuals with OI through a mixed-methods review. Identifies physical, emotional, and social challenges, advocating for holistic support approaches. |
| Dogba, M. J., Rauch, F., Tre G., Glorieux, F. H., & Bedos, C. (2014). Shaping and managing the course of a child’s disease: Parental experiences with osteogenesis imperfecta. Disability and Health Journal, 7(3), 343-349. https://pubmed.ncbi.nlm.nih.gov/24947576/ | Explores parental experiences in managing a child’s OI. Highlights the need for emotional and psychological support alongside medical care. |in managing a child’s OI. Highlights the need for emotional and psychological support alongside medical care. |
| Dogba, M. J., Bedos, C., Durigova, M., Glorieux, F. H., & Rauch, F. (2013). The impact of severe osteogenesis imperfecta on the lives of young patients and their parents: A qualitative analysis. BMC Pediatrics, 13, 153. https://bmcpediatr.biomedcentral.com/articles/10.1186/1471-2431-13-153 | Analyses the impact of severe OI on young patients and their parents. Calls for better integration of social and healthcare services. |of severe OI on young patients and their parents. Calls for better integration of social and healthcare services. |
| Glorieux, F. H. (2008). Osteogenesis imperfecta. Best Practice & Research Clinical Rheumatology, 22(1), 85-100. https://pubmed.ncbi.nlm.nih.gov/18328983/ | Reviews advances in understanding OI pathology and treatment, particularly the role of bisphosphonates in improving bone density. OI pathology and treatment, particularly the role of bisphosphonates in improving bone density. |
| Hill, M., Hammond, J., Sharmin, M., et al. (2022). Living with osteogenesis imperfecta: A qualitative study exploring experiences and psychosocial impact from the perspective of patients, parents and professionals. Disability and Health Journal, 15(2), 101168. https://pubmed.ncbi.nlm.nih.gov/34266787/ | Provides qualitative insights into the experiences of individuals with OI, their families, and healthcare professionals. Identifies gaps in care and suggests areas for improvement into the experiences of individuals with OI, their families, and healthcare professionals. Identifies gaps in care and suggests areas for improvement. |
| Thomas, I. H., & DiMeglio, L. A. (2016). Advances in the classification and treatment of osteogenesis imperfecta. Current Osteoporosis Reports, 14(1), 1-9. https://pubmed.ncbi.nlm.nih.gov/26861807/ | Discusses advances in classification and treatment of OI, emphasising personalised approaches to management and treatment of OI, emphasising personalised approaches to management. |
| van Welzenis, T., Westerheim, I., Hart, T., et al. (2024). The IMPACT Survey: the humanistic impact of osteogenesis imperfecta in adults. BMC Public Health, 24(3318). https://doi.org/10.1186/s12889-024-20555-0. | The IMPACT survey examined the humanistic impact of OI in adults, revealing substantial effects on quality of life across physical, socioeconomic, and mental well-being domains. Identifies severity and fracture frequency as key drivers of QoL deterioration. |the humanistic impact of OI in adults, revealing substantial effects on quality of life across physical, socioeconomic, and mental well-being domains. Identifies severity and fracture frequency as key drivers of QoL deterioration. |
| Swezey, T., Reeve, B. B., Hart, T. S., et al. (2018). Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community. Osteoporosis International, 30(507-511). https://doi.org/10.1007/s00198-018-4690-7. | Highlights the importance of incorporating patient-reported outcomes in rare bone disease research. Emphasises that individuals with OI experience underreported health concerns beyond fractures, including respiratory issues, hearing loss, and effects of aging. |patient-reported outcomes in rare bone disease research. Emphasises that individuals with OI experience underreported health concerns beyond fractures, including respiratory issues, hearing loss, and effects of aging. |
| Westerheim, I., Cormier-Daire, V., Gilbert, S., et al. (2024). Osteogenesis Imperfecta: A study of the patient journey in 13 European countries. Orphanet Journal of Rare Diseases, 19(331). https://doi.org/10.1186/s13023-024-03345-0. | Investigates the patient journey in 13 European countries, identifying challenges such as misdiagnoses, delays in treatment initiation, and the absence of structured adult care for OI patients. Recommends improved diagnostic pathways and long-term patient support frameworks. |