Shriners Hospitals Opens Brittle Bone Disease Clinic

Shriners Hospitals for ChildrenSpokane has opened a clinic at its South Hill facility to begin offering treatment for osteogenesis imperfecta, or brittle bone disease.

The disease is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. There are at least four recognized forms of the disorder, and it can range widely in severity, with some victims suffering just a few fractures in a lifetime, while others might have as many as several hundred.

“They can sit down and break a hip. They can move wrong and break an arm,” says Maggie Crabtree, the hospital’s spokeswoman.

In addition to orthopedic care and physical and occupational therapies, the new clinic is offering brittle bone disease patients intravenous treatment with pamidronate, which has been shown to be “very effective,” Dr. Sharon Genung, the hospital’s pediatrician, told doctors in the hospital’s service area in March. The hospital accepts patients from Eastern Washington, North Idaho, Montana, Alaska, British Columbia, Alberta, the Yukon, and the Northwest Territories.

About 20 families have signed up for the Shriners Hospital clinic so far, although the families don’t all have children in treatment, Genung says. More patients are scheduled for evaluation in the next several months.

Genung says that pamidronate only recently has been approved by the U.S. Food and Drug Administration. Crabtree says the drug increases bone density as children grow. For children with mild symptoms, an oral medication, alendronate, is prescribed.

Families come initially for three days of in-patient treatment, which includes laboratory studies, X-rays, and bone scans, Genung says. Genetic consultations also will be available.

Subsequent intravenous treatment also will be given over three days, with the interval between treatments varying depending on a child’s age, she says. The duration of treatment with the medication will vary from child to child, depending on the severity of the disease, although the average at this point is five years.

The disease is caused by a genetic defect that affects the body’s production of collagen, a major protein in the connective tissue. Children with brittle bone disease either have less collagen than normal or a poorer quality of collagen-leading to weak bones that fracture easily. While the number of people in the U.S. afflicted with the disease is unknown the best estimate is 20,000 to 50,000.

Shriners Hospital is a philanthropic organization that doesn’t charge for care.

Copyright Northwest Business Press Inc. Jun 16, 2005