Editor’s note: National Osteogenesis Imperfecta Awareness Week takes place from May 2 – 9, 2015.
Imagine breaking a bone by rolling over in bed. Or fracturing your foot by taking a step.
For people who have osteogenesis imperfecta (sometimes called brittle bone disease or OI), daily life can be difficult. With the right treatment, however, many children and adults live full, satisfying lives while managing this rare condition.
Gillette Children’s Specialty Healthcare is the region’s only health care organization with deep expertise in osteogenesis imperfecta and its complications- offering a multidisciplinary team approach. We offer testing, surgical and other medical interventions, rehabilitation therapies, braces and splints, and more.
Q: What is brittle bone disease?
A: Osteogenesis imperfecta is a hereditary (genetic) condition that causes a defect in the bone protein collagen. As a result, the bones of people who have the condition break frequently. Some sustain dozens of breaks during childhood. And parents of children with undiagnosed osteogenesis imperfecta often are suspected—wrongly—of child abuse.
Q: Is it common?
A: No. It is a rare condition that ranges from relatively mild to severe. Although severe forms are obvious in infancy—some babies are so fragile their bones break during birth—milder forms might escape diagnosis until childhood or later.
Q: What are the symptoms?
A: The primary symptom is fragile bones that break from relatively little impact. Multiple fractures can cause the arms and legs to bow, which makes them more likely to fracture again.
Fractures of the middle ear bones can cause hearing loss early in life. Some patients have brittle teeth resulting from an abnormality of tooth dentin. Often, the sclera (whites of the eyes) appear blue, gray or purple.
Although people with milder forms of the condition usually reach an average height, those with more severe forms are often short of stature. Some patients develop scoliosis (an abnormally curved spine) and have triangular-shaped faces.
Q: How is osteogenesis imperfecta diagnosed?
A: We begin with a thorough family history, a physical exam and X-rays. Those results may lead to more specific diagnostic tests, such as genetic testing, a bone density scan, and a skin or bone biopsy.
Q: What treatments exist for osteogenesis imperfecta?
A: The goal of treatments is to minimize the effects of the condition. Surgery helps manage recurring breaks, bowed bones or an abnormally curved spine. For example, we might place rods within the bone canal to stabilize and realign bones.
Certain medications can help reduce bone pain, decrease the number of fractures, increase bone density and improve a patient’s ability to walk. Exercise in a heated pool is often a safe and effective option for strengthening muscles. Orthoses (braces and splints) can prevent fractures and provide support.
Q: What makes Gillette a good choice for people who have osteogenesis imperfecta?
A: Gillette has years of experience treating the condition—and we care for patients from childhood into adulthood. In addition to diagnosing and treating patients, we teach them how to avoid the most common complications of the disease.
Orthopedic surgeons, endocrinologists, geneticists and pediatric rehabilitation medicine physicians are among the specialists who collaborate on custom treatment plans for each patient. Our team also includes dentists and audiologists skilled in working with children and adults who have disabilities. Our Assistive Technology and casting specialists provide casts, orthoses, and custom seating and controls for people who need wheelchairs. Our physical and occupational therapists help people strengthen their muscles safely and improve their abilities.
Q: How can I learn more about osteogenesis imperfecta?
A: To learn more about Gillette and our options for people who have osteogenesis imperfecta, visit our website.
Stephen Sundberg, M.D., pediatric orthopedic surgeon; Kevin Sheridan, M.D., pediatrician specializing in endocrinology; and Nanette Aldahondo, M.D., pediatric rehabilitation medicine physician, collaborated on an article on osteogenesis imperfecta in A Pediatric Perspective, our newsletter for Gillette’s referring physicians. This blog post was adapted from that information.