A Family Guide to Non-Oncologic Blood Disorders
How is OI diagnosed? OI is usually diagnosed during infancy or early childhood and is based on the following: • Complete medical history and family history, including: » » Broken bones » » Hearing loss » » Brittle teeth » » Adult height (family members) » » Whether close relatives have had children together
• Physical therapy/occupational therapy encourages movement and weight bearing once the bone has healed. Specific exercises will increase mobility and decrease the risk of future fractures. • Medications to treat osteoporosis (e.g., bisphospho- nates) slow down bone resorption and reduce the number of fractures and bone pain. • Surgical procedures are recommended for repeated fractures of the same bone, fractures not healing prop- erly, and bone deformities, such as scoliosis. Proce- dures include rodding and spinal fusion for scoliosis. • Healthy lifestyle choices are encouraged (e.g., eat a well-balanced diet, exercise, and maintain healthy weight). Your medical team will determine the best treatment plan for your child. How successful is the treatment? There is no treatment to cure OI or medications to treat it. However, the following research is currently being done: • Genes that cause OI • Medications to help the child with OI grow • Medications to help the child’s bones grow stronger • Improvement in existing therapies for symptom management • Surgical advancements Stem Cell Transplant Indications Stem cell transplant may be indicated for children with severe forms of OI.
• Physical examination:
» » Measuring the length of limbs » » Measuring the head circumference » » Examining the eyes and teeth » » Examining the spine and rib cage • Specific blood tests and X-rays/scans
What tests and procedures will my child need? • X-rays are radiography imaging that take clear images of your child’s bones, looking for fractures and malfor- mations. They are used to diagnose problems and are the most commonly used radiology test. • DNA blood tests look for any changes in your child’s genes. How is OI treated? Currently, there is no known treatment, medicine, or surgery to cure OI. However, there are treatments to manage, prevent, or correct symptoms associated with OI, such as the following: • Immobilization (casting, bracing, splinting fractures) is necessary to keep the bones still and in line to encour- age healing.
Notes from Your Child’s Medical Team
Osteogenesis Imprefecta
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