By Stuart Tart, Director of Development, Osteogenesis Imperfecta Foundation
Ten years ago, Greg and wife Leigh brought their new daughter, Mallie, home from the hospital.
When she was 9 days old, Mallie was fussy, leading Greg and Leigh to discover that their baby girl had fractured her right tibia and fibula. The new parents immediately took their daughter to the doctor, who advised them to take Mallie straight to the emergency room. They discovered that Mallie was born with osteogenesis imperfecta, a genetic bone disorder characterized by fragile bones that break easily.
“We were just absolutely frightened,” Leigh remembered. “I am a nurse, and I don’t remember hearing any of this from nursing school.”
Osteogenesis imperfecta (OI) is a rare heterogeneous disease of connective tissue that affects 8/100,000, or about 30,000 persons in the United States. Although the cardinal manifestation of OI is bone fragility, this rare disease encompasses all body systems. A person is born with this disorder and affected throughout his or her lifetime. Thus, an infant may be born with multiple fractures, or a child can break his arm and collarbone while putting on a T-shirt. Each fracture is as painful as the first!
Many children and adults with OI have multiple surgeries to try to correct bone deformities and straighten bones so they can live independently. Mallie had her first surgery when she was just 2 ½ years old! Rodding surgery is considered major surgery, and the Holmans knew that it would require their little girl to deal with an overnight stay at the hospital, a hip-spica cast for six weeks, and then months of physical therapy. This surgery was necessary to relieve the bowing in her legs and thus, to prevent osteogenesis imperfecta from stealing Mallie’s ability to walk. To make matters worse, the Holmans learned that Mallie would likely need to repeat the surgery every two to three years, depending on how fast she grows, to replace the rods with longer ones.
Mallie, who turned ten this year, is an excellent student, and she is active in a variety of activities, including swim team, golf, band and orchestra. Although she tries not to allow OI to slow her down so she can still just be a kid, Mallie recently fractured her forearm and reinjured her tibia in her lower leg. Her arm was so severely injured that she needed surgery to place two rods in her bones. Even though this was her fifth surgery in eight years, it was still an extremely frightening and traumatic experience for her. After a brief overnight stay in the hospital, Mallie was home and showing off her unbreakable spirit.
The Role of the OI Foundation
The Osteogenesis Imperfecta (OI) Foundation provides information and resources to parents, doctors, educators, and adults with OI; organizes the National Conference on OI for families to gain the medical, research, and coping information they need (to be held in July this year); and advocates for increased funding from the National Institutes of Health, foundations and corporations.
The Foundation also funds groundbreaking research, including the multi-site Longitudinal Study of OI, which is tracking the health of 500 children and adults with OI for 5 years. The goal of the study is to develop a more detailed picture of osteogenesis imperfecta across a lifespan and to improve the level of care.
Build Awareness and Improve Lives!
The OI Foundation is hosting its second annual National OI Awareness Week from May 5-12, 2012. Awareness Week is a week-long event designed to educate communities across the country about osteogenesis imperfecta. National OI Awareness Week is held in conjunction with Wishbone Day on May 6, an international community awareness effort.
Hundreds of volunteers have planned fundraising events, secured proclamations from their city and state officials proclaiming May 5-12 ‘OI Awareness Week’, and are distributing educational materials throughout their communities.
Excitement for this year’s Awareness Week is growing—just last month, the City of Rochester, NY proclaimed May 5-12, 2012 ‘Osteogenesis Imperfecta Awareness Week’!
Awareness efforts like National OI Awareness Week help educate the greater community, leading to additional funding towards research programs and vital information and resources for our caregivers, doctors, nurses, teachers, and the OI community.
For more information or to donate, please visit our website.
Together, we are creating a better future for children and adults living with OI!