Spanish
May 6th is the International Osteogenesis Imperfecta Day or Wishbone Day celebrated to raise awareness among the population about this rare disease that affects thousands of people worldwide, characterized by bone fragility.
Osteogenesis Imperfecta, also known as Brittle Bone Disease, is a rare genetic disorder characterized by the inadequate formation of bones, frequent occurrence of fractures, and bone fragility.
OI is believed to be caused by a genetic defect that leads to imperfect formation or an inadequate amount of bone collagen, a connective tissue protein.
The creation of this commemoration was at the initiative of the Australian Osteogenesis Society, within the framework of the Australian Osteogenesis Imperfecta Conference, held on May 1, 2008.
It is estimated that between 1 in 15,000 to 20,000 people in the world live with some type of Osteogenesis Imperfecta.
Severity varies widely: from mild forms (with few fractures) to severe forms that affect bone, respiratory, and physical development from infancy.
"Fractures may occur during the first year of life or immediately after the first year, which characterizes the lesser or greater severity of the disease," highlights Daniel Ferreira Fernandes, orthopedist and professor of Medicine at the Pontifical Catholic University of Paraná (Brazil) cited by the BCC.
Symptoms
- Bluish or grayish white coating of the eyes (sclera).
- Multiple bone fractures.
- Triangle-shaped face.
- Incipient and progressive hearing loss.
- Arched arms and legs.
- Discoloration and fragility in the teeth (Dentinogenesis Imperfecta).
- Short stature.
- Weak muscles.
- Lax joints.
- Deviations of the curvature of the spine: Scoliosis and Kyphosis.
- Bone deformities in the upper and lower extremities, chest, and skull.
Treatment: No cure
Treatment for osteogenesis imperfecta (OI) focuses on managing symptoms and complications, as there is no cure. The goal of treatment is to prevent deformities and fractures, and to allow the child to function with as much independence as possible. Treatments to prevent or correct symptoms may include the following:
- Assistive devices, such as wheelchairs, orthotics, and other custom-made equipment.
- Fracture care
- Surgery
- Rodding, a procedure to insert a metal rod along a long bone to stabilize it and prevent deformity.
- Dental procedures
- Physical therapy
With early diagnosis and comprehensive care, many people with OI can lead an active life, study, work, and have a family.
