Bone Abstracts

Aim: Osteogenesis imperfecta (OI) the most common genetic disorder of bone is characterized by frequent, unpredictable fractures of long bones with progressive skeletal deformity. Although patients with OI are severely affected physically, this disorder may have a profound influence on patients and their families. This report reviews the extent of this influence, which includes the emotional burdens, the social costs of immobilization and repeated hospitalization.

Methods: A total of 46 OI family members were included in this cross sectional report. The interviews were based on a questionnaire including a total of 16 open ended and 19 close ended questions. Descriptive statistical methods were used.

Results: The mean age of the study group was 35.52±6.65 years and 93.5% of the were mothers. 37% of the families were consanguineous. 95.7% of the family members described OI as brittle bones but included emotional emphasis as ‘very bad, damn, something that needs sacrifice, hard, disappointing, a disease that composes perturbation and hopelessness’. 91.3% of them thought that their knowledge about OI and books in Turkish about OI were inadequate. When they were first diagnosed all of them felt anxiety, 95.7% sadness, 89.1% amazement, 87% uneasiness, 87% fear, 84.8% disappointment, and 60.9% depressive. They coped with this situation by; trying to learn about the disease 67.4%, taking social support from their relatives 65.2%, with the help of religion 54.3%, help of their doctor 45.7%, with the help of the health care providers 37% and by drifting apart from people 43.5%. 56.5% them had physical, 97.8% psychological, 97.8% social, and 76.1% had economical problems. 82.6% of the caregivers claimed inadequate information was given by the health care professionals.

Conclusion: Although medical treatment is of utmost importance it is necessary to regard other aspects as psychological, social, and moral in patients and their families with OI.