When Your Child Has Osteogenesis Imperfecta (OI)

OI is a congenital condition. This means the child is born with it. It's most often due to a genetic defect (problem passed from a parent to the child). OI is caused by a problem with a substance in the body called collagen. Collagen is important for the correct development of bone. The child’s body may make too little collagen. Or it may make collagen that is poor quality and hard for the body to use.

The most common sign of OI is bones that break easily. A child may be born with fractures, and may have many broken bones during their first years of life. Depending on the type of OI present, the child may also have other signs and symptoms, including soft bones, bluish whites of the eyes, thin skin, and breathing problems.

OI is often diagnosed based on the child’s health history and a physical exam. If tests are done, they may include:

• X-rays to show current or previous bone fractures

• Skin punch biopsy (small sample taken of the child’s skin) to study the child’s collagen. This test is complicated. Results can take a few months.

• DNA study (a study of the child’s and parents’ genetic material)

OI is a chronic condition. This means your child will have it for life, and there is no cure. But OI can be treated to help your child prevent fractures and serious problems. Treatment for OI is different for every child. The options depend on the severity of your child’s condition, your child’s age and health history, and your preferences. Work with the healthcare team to develop a plan that is best for you and your child. This plan is likely to include:

• Treating fractures when they occur with splints, braces, or casts, as needed. Sometimes surgery may be recommended.

• Using methods to control pain from fractures, including over-the-counter or prescription medicines, nerve block injections, or TENS (transcutaneous electrical nerve stimulation).

• Doing physical therapy to help strengthen the muscles. This helps maintain function in as many aspects of life as possible.

• Giving the child medicines called bisphosphonates to increase bone mass by slowing the loss of existing bone. These are taken every day. In a young child, they may be given through an IV (intravenously).

• Making lifestyle changes to limit fractures and increase muscle strength, such as:

  • Ensuring the child gets plenty of healthy, nutritious foods and any vitamin supplements that are prescribed by the healthcare team

  • Encouraging low-impact exercise to strengthen bones and muscles (swimming, water therapies, and walking are all good choices)

  • Teaching the child to not roughhouse with siblings and playmates

  • Helping the child maintain a healthy weight to prevent extra stress on the bones

• Working with a physical therapist to do special exercises to help strengthen muscles and joints.

• Using supportive devices as needed, such as crutches, braces, or wheelchairs.

Surgery called rodding may be advised for some children with OI. During this surgery, expandable metal rods are put into the long bones of the child’s arms and legs. These strengthen the limbs and prevent breaks. As the child grows, these rods get longer. If your child is a good candidate for rodding, their healthcare team can tell you more about it.

Children with OI often don’t grow very tall. Many fractures in one bone may cause the bone to be crooked. And the child with OI may also be more likely to have other conditions, such as tooth decay, scoliosis (curvature of the spine), and hearing loss. Working with the child’s healthcare team to closely manage the condition helps prevent and manage complications. So keep in close contact with your child’s healthcare team and follow instructions and suggestions closely. Also, be an advocate for your child. Ask questions when you don’t understand something or need to know more.

A serious disease like OI can be hard on the child, parents, and other family members. But you don’t have to deal with it alone. In addition to talking with your healthcare team, consider professional counseling for parents and children. Counseling can help you and your child cope with the emotional issues that often come along with chronic disease. Many OI support groups are also available for parents, children, and families. In a support group, you can share joys, frustrations, tips, and knowledge with others who are also dealing with OI. Ask the healthcare team for more information.

To find support groups and get more information about OI, visit these websites:

• Osteogenesis Imperfecta Foundation at www.oif.org

• National Organization for Rare Disorders (NORD) at www.rarediseases.org