There is no cure for OI. There are however ways to manage the symptoms. Despite the obstacles, many people who have OI lead productive and fulfilling lives well into their adult years. The goal of all treatment is to minimize fractures, enhance independent function, and promote general health. Medical care for children and adults who have OI involves an interdisciplinary team. This can include a primary care doctor, orthopedists, endocrinologists, geneticists, rehabilitation specialists, neurologists and pulmonologists. Treatment may include fracture care, physical therapy, surgical procedures, medications and mobility aides.
Casting, splinting and bracing broken bones can help them heal properly. However long periods of immobility can further weaken bones and lead to muscle loss, weakness, and more fractures. Many orthopedists prefer to treat fractures with short term immobilization in lightweight casts, splints, or braces to allow some movement as soon as possible after the fracture.
Physical Therapy and Safe Exercise
Goals for physical therapy include expanding and maintaining function and promoting independence. A typical program includes muscle strengthening and aerobic conditioning. Physical therapy often begins in infancy to counteract the delay in motor skill development many children experience due to OI related muscle weakness. Adaptive devices may be needed. Occupational therapy can help with fine motor skills and selection of adaptive equipment for daily living. As a child with OI grows older and gains more independence, he or she will benefit from continued physical activity, such as adapted physical education. Adults with OI also benefit from safe, regular exercise to maintain bone and muscle mass. Swimming and water therapy are particularly well-suited for people with OI of all ages, as they allow independent movement with little fracture risk. Walking is also excellent exercise for those who are able (with or without mobility aids).
Surgery may be needed to repair a broken bone, correct bone deformities such as bowing, stabilize the spine or repair tiny bones in the middle ear and improve hearing. Many children with OI undergo a surgical procedure known as rodding, in which metal rods are inserted into the long bones to control fractures and improve deformities that interfere with function. Both non-expandable and expandable rods are available.
Bisphosphonate drugs, which are approved by the regulatory authorities (eg FDA and EMA) to treat osteoporosis are used “off label” to increase bone density in children and adults with moderate and severe OI. Other drugs that were developed to treat osteoporosis are also used to prevent age-related bone loss in adults who have OI. Teriparatide (a drug based on the parathyroid hormone) is one of them. Treatments under study include also gene therapies. The search continues for a drug treatment that is specific for OI.
People with OI benefit from a healthy lifestyle that includes safe exercise and a nutritious diet. Adequate intake of nutrients, such as Vitamin D and calcium is necessary to maintain bone health, however, extra-large doses of these nutrients are not recommended. Maintaining a healthy weight is important since extra weight adds stress to the skeleton, heart and lungs and reduces the ability to move easily. In addition, people with OI should avoid smoking, second hand smoke, excessive alcohol or caffeine consumption and steroid medications, all of which reduce bone density.
Many people with OI are using walkers, crutches, canes and wheelchairs to help them move around independently.
Source: Our partner OIF (OI Foundation) with small adaptations.