Your child has been diagnosed with osteogenesis imperfecta (OI). This is a rare condition that causes bones to be very thin and delicate so they break (fracture) easily. OI is sometimes called brittle bone disease. There are four main types of OI that range from mild to severe.
Your child will be referred to a doctor who treats bone and joint problems in children (pediatric orthopedist). Your child will also likely be referred to a doctor who treats problems with hormones in the body (metabolic specialist). And your child may be referred to a doctor who specializes in inherited disorders (pediatric geneticist).
What causes OI?
OI is a congenital condition. This means a child is born with it. It's most often due to a genetic defect (problem passed from a parent to their child). OI is caused by a problem with a substance in the body called collagen. Collagen is important for the correct development of bone. Your child’s body may make too little collagen. Or your child's body may make collagen that is poor quality and hard for their body to use.
What are the symptoms of OI?
The most common sign of OI is bones that break easily. Children may be born with fractures. And they may have many broken bones during their first years of life. Depending on the type of OI, other signs and symptoms may include soft bones, bluish whites of the eyes, thin skin, and breathing problems.
How is OI diagnosed?
OI is often diagnosed based on a child’s health history and a physical exam. If tests are done, they may include:
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X-rays to show current or previous bone fractures.
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Skin punch biopsy (small sample taken of your child’s skin) to study your child’s collagen. This test is complicated. Results can take a few months.
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DNA study (a study of a child’s and their parents’ genetic material).
How is OI treated?
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 choices depend on the severity of your child’s condition, your child’s age and health history, and your preferences. Work with your child's care team to develop a plan that is best for you and your child. This plan is likely to include:
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Treating fractures when they occur with splints, braces, or casts, as needed. Sometimes surgery may be recommended.
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Using methods to control pain from fractures, including over-the-counter or prescription medicines, nerve block injections, or TENS (transcutaneous electrical nerve stimulation).
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Doing physical therapy to help strengthen your child's muscles. This helps maintain function in as many aspects of life as possible.
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Giving your 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 I.V. (intravenously).
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Making lifestyle changes to limit fractures and increase muscle strength, such as:
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Making sure that your child gets plenty of healthy, nutritious foods and any vitamin supplements that are prescribed by their care team.
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Encouraging low-impact exercise to strengthen bones and muscles (swimming, water therapies, and walking are all good choices).
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Teaching your child to not play rough with siblings and playmates.
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Helping your child maintain a healthy weight to prevent extra stress on their bones.
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Working with a physical therapist to do special exercises to help strengthen muscles and joints.
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Using supportive devices as needed, such as crutches, braces, or wheelchairs.
When is surgery done for OI?
Surgery called rodding may be advised for some children with OI. During this surgery, expandable metal rods are put into the long bones of a child’s arms and legs. These rods make the limbs stronger and prevent breaks. As a child grows, these rods get longer. If your child is a good candidate for rodding, their care team can tell you more about it.
What are the long-term concerns?
Children with OI often don’t grow very tall. Many fractures in one bone may cause the bone to be crooked. And children 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 your child’s care team to closely manage the condition helps prevent and manage problems. So keep in close contact with the care 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.
Coping with OI
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 child's care 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 care team for more information.
Resources
To find support groups and get more information about OI, visit these websites:
