Osteogenesis Imperfecta in Children

 

What is Osteogenesis Imperfecta?

Brittle Bone DiseaseOsteogenesis imperfecta (OI), also known as brittle bone disease, is a genetic (inherited) disorder characterized by bones that break easily without a specific cause. Further information reveals that an estimated 20,000 to 50,000 people in the U.S. have this disease. Furthermore, this disease can affect males and females of all races.

What causes Brittle Bone Disease?

Scientists and researchers believe that Brittle Bone disease occurs because of a genetic defect that causes imperfectly formed or an inadequate amount of bone collagen, a protein found in the connective tissue.

Genetic Testing

Genetic testing provides an option for any woman before or during pregnancy. Sometimes the baby’s father gets tested, too. Your doctor may suggest genetic testing if family history puts your baby at a higher risk of inherited diseases.

The tests you need may depend on your heritage. Certain ethnic groups have a higher risk of certain diseases. For instance, people in Eastern Europe have a higher risk of Tay-Sachs disease and Canavan disease. Blacks have a higher risk of sickle cell disease. Whites have a higher risk of cystic fibrosis.

What the Test Does

Doctors use different types of genetic testing. Standard screenings check your baby’s risk of birth defects such as Down syndrome, trisomy 18, trisomy 13, neural tube defects, and others. Carrier tests can show if you — or the baby’s father — carry genetic diseases. These include cystic fibrosis, Fragile X syndrome, sickle cell disease, Tay-Sachs, and others.

The Test

A nurse or phlebotomist will take a sample of your blood or saliva. The testing will not create any risk to you or your baby.

Genetic tests don’t diagnose your baby with a disease. They only tell you if your baby has a higher risk. Your doctor may suggest follow-up tests, such as amniocentesis or CVS, to get more information.  Testing the father can also help. Some diseases become inherited only if both parents carry the gene.

When you’re planning for a family, you want everything to go right. Understanding what’s in your genes can help moms and dads make more informed choices for a healthy pregnancy and a happy baby.  While most babies are born healthy, with every pregnancy there exists a small chance of having a baby with a health condition.  Every Mon and Dad should get tested.

What are the symptoms of Brittle Bone Disease?

Each child may experience symptoms differently. Although symptoms may vary, generally they are used to classify the eight forms of OI, each of which represents varying grades of severity of the condition.

According to the Osteoporosis and Related Bone Diseases National Resource Center, part of the National Institutes of Health, the types of OI and their symptoms include:

  • Bleeding and easy bruising (frequent nosebleeds or heavy bleeding after an injury)
  • Bowing of the legs
  • Blue color in the white part of the eyes
  • Breathing problems
  • Brittle, discolored teeth
  • Broken bones (fractures)
  • Can’t stand warm temperatures
  • Curved spine, called scoliosis
  • Feeling very tired
  • Hearing loss that starts in early adulthood
  • Loose joints
  • Short height
  • Skin easily hurt
  • Weak muscles and tissues
  • The symptoms of OI may resemble other bone problems or medical conditions as well.

Diagnosing Brittle Bone Disease

Because this is a genetic disorder, your child’s doctor will take a careful family history in addition to a complete medical history and do a physical examination. The physicians at Medical City Children’s Orthopedic and Spine Specialty are experts in children’s bones and have a lot of experience in helping children get better. Call today and schedule an appointment with one of our highly trained physicians.

In addition, diagnostic procedures for OI may include a skin biopsy to evaluate the amount and structure of collagen. But this test is complicated, and not many qualified facilities are available to perform the procedure. It is not unusual for the results of the biopsy to take up to six months.

Additional diagnostic tests include:

  • X-ray – A diagnostic test that uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film.
  • This is a hearing test using electronic tones.
  • Ear, nose, and throat exam detect hearing loss

For those who have had a child with Brittle Bone Disease, you may want to consider seeing a geneticist, a doctor who specializes in hereditary diseases, to discuss the risk of having another child this disease and your child’s risk of having a child with it.

Treatment for Brittle Bone Disease

Our specially trained doctors will determine the specific treatment for Brittle Bone Disease.  As such, the following will have an impact on treatment:

  • Your child’s age, overall health, and medical history
  • The extent of the condition
  • Type of condition
  • Your child’s tolerance for specific medications, procedures, or therapies
  • Expectations for the course of the condition
  • Your opinion or preference

To date, no known treatment, medicine, or surgery will cure brittle bone disease. Based on today’s research, the treatment is to prevent deformities and fractures and allow the child to function as independently as possible. Treatments for preventing or correcting symptoms may include the following:

  • Care of fractures
  • Surgery
  • Rodding, a procedure to insert a metal bar the length of a long bone to stabilize it and prevent deformity
  • Physical therapy
  • Assistive devices, such as wheelchairs, braces, and other custom-made equipment

Management of Osteogenesis Imperfecta

Management of the disease includes focusing on preventing or minimizing deformities and maximizing the child’s functional ability at home and in the community. Therefore, the management of OI is either nonsurgical or surgical. Nonsurgical interventions may include one or more of the following:

  • Regular exercise and a healthy diet. These are recommended for proper weight maintenance.
  • Positioning aids. These are used to help the child sit, lie, or stand.
  • Braces and splints. These are used to prevent deformity and promote support or protection.
  • Medications
  • Avoidance of smoking
  • Avoidance of steroid medications
  • Psychological counseling

Surgical interventions may be considered to manage the following conditions:

  • Fractures
  • Bowing of bone
  • Scoliosis, a condition that causes the backbones to curve
  • Heart problems

Surgery may also potentially take place to maintain a child’s ability to sit or stand.

The long-term outlook for a child with Brittle Bone Disease

Brittle Bone Disease is a progressive condition that needs life-long management to prevent deformity and complications.

Our team at Medical City Orthopedics and Spine Specialists will help improve the child’s functional outcomes and provide support to the parents as they learn to care for their child’s needs.

The Osteogenesis Imperfecta Society can provide an important resource for parents of children with OI.

At Medical City Children’s Orthopedic and Spine Specialists, we offer soft fiberglass casts. All our 4 locations (serving the Dallas metroplex) are a one-stop destination for X-ray and fracture care. If your child is in pain from a broken bone, get in touch with us today at 214-380-2426 to get the best orthopedic care for Brittle Bone Disease.