A Leader in the Treatment of Osteogensis Imperfecta (OI)

Effective Surgical Management of Brittle Bone Disease

Osteogenesis imperfecta (OI, or brittle bone disease) is a rare genetic disorder which results in fragile bones, low bone mass and limb deformities. The earliest records of individuals with OI were mummies from ancient Egypt.

Since the 19th century when the disease was first recognized, our understanding of OI has proceeded rapidly. We now know OI is caused by a deficiency of collagen, which forms the scaffolding for bone cells and connective tissue in the body. This genetic deficiency causes bones to bend and break, despite good nutrition. The extreme variability of this disorder is the result of many different possible mutations in the gene encoding collagen, and the severity varies greatly among patients, ranging from babies with multiple fractures at birth to individuals with normal stature and relatively few fractures during their lifetime. The disease also affects the teeth, blood vessels, and the lungs.

Shriners Hospital for Children-Chicago has provided treatment for children with osteogenesis imperfecta for more than 75 years. During the late 1940s, Harold Sofield, M.D., Chief of Staff at the Chicago Hospital, developed a special interest in OI. In 1959, with Edward A. Millar, M.D., Sofield wrote a seminal article describing a solution that seemed radical at the time: the placement of stainless steel rods into the intramedullary canals of the long bones to stabilize and strengthen them. His treatment proved extremely useful in the rehabilitation and prevention of fractures; it was adopted throughout the world and still forms the basis for orthopaedic treatment of OI. In 1970, Dr. Millar began a formal OI clinic.

Consequently, Shriners-Chicago has become a recognized treatment and research facility for children with OI from all over the Midwest. As research has improved our understanding, the hospital has been at the forefront of developing new treatments to improve the quality of life for children with OI.

Advancements in care have moved children with OI out of the hospital and back into their communities. Even children with multiple fractures and difficulty in standing or sitting now attend school with their peers. Individuals with OI, who often display above-average intelligence, have proven their ability to become successful in achieving independence, creating satisfying family lives and careers.

The focus of our care is to help the child with OI to participate successfully in life. The ever-increasing base of knowledge on OI has demanded specialization utilizing an entire spectrum of health care experts. In order to provide the best orthopaedic care, we familiarize ourselves with all aspects, which give a child as normal life as possible. We minimize fractures with appropriate medications and surgeries, but also provide counseling about the different types of life adjustments and adaptive equipment necessary to achieve active participation in school and in life.

At Shriners-Chicago, this team of experts is led by an orthopaedic surgeon and supported by a geneticist, a pediatric dentist, a neurologist, a pediatrician and a physical therapist. Their recommendations are taken back to the child’s “medical home” physician-- their primary care practitioner-- for implementation. The first “OI nurse” at the Chicago hospital, Frances Dubrowski, was instrumental in founding the Osteogenesis Imperfecta Foundation. Now in its 35th year, the foundation is a thriving national charity dedicated to education and research. A care coordinator/social worker helps hold all facets of the child’s care together, within the hospital, at home, and in the school and community.

^3/07