Imagine lifting your six-month-old baby from her crib and hearing her cry out in pain as her tiny leg catches in your shirt. For most babies, this would be no reason for concern. For Jeannette Finch, now seven years old, her father’s simple action caused a hairline fracture in her femur.
Jeannette’s parents, John and Carol, had feared this “first break” since before their daughter was born, when genetic tests confirmed that Jeannette had inherited a rare disorder known as osteogenesis imperfecta (OI) or “brittle bone disease.” Her father knows the pain of OI first-hand, as John inherited OI from his own mother and has had more than 50 fractures since birth.
There is no cure for the up to 50,000 Americans with OI, which is caused by a gene mutation that affects the body’s production of collagen in bones and tissues. Of the eight types of OI, the milder types, like Jeannette’s, are most common, yet more severe types can be fatal. A person with severe OI may experience hundreds of fractures in a lifetime. Patients may also have pulmonary disease, curved bones or spines, loose joints, muscle weakness, hearing loss, brittle teeth, and be of short stature.
Born via C-section because many children with OI sustain fractures coming through the birth canal, Jeannette was one of the luckier ones. That said, she has already had five fractures in her legs and arms during her young life. As her mom, Carol, recently said, “Not a day goes by when we don’t worry our little hummingbird will fall and break a bone. We call her ‘hummingbird’ because Jeannette is quite small for her age and constantly on the move!”
Our OI Clinic, part of the Children’s Neurodevelopment Center, is staffed by a multidisciplinary team of experts that includes geneticists, imaging and infusion specialists, endocrinologists, orthopedic surgeons, cardiologists, pulmonologists, audiologists, dentists, and physical and occupational therapists, as well as a nurse who leads a monthly support group for families and provides early intervention support at home and at school.
Leading Jeannette’s care team is Dr. Craig Eberson, a specialist in treating orthopedic disorders in children. In May 2012, when Jeannette fell during a specially modified after-school playgroup and fractured her forearm, he performed a highly advanced, minimally invasive surgery known as “rodding” in which he inserted a thin metal nail inside Jeannette’s ulna that goes from her wrist to her elbow and gives her bone the added strength to prevent another break.
Every treatment plan, for each patient with OI, is unique. Depending on the severity, growth hormones might be used. Or the IV drug Pamidronate might be part of the treatment, typically prescribed to lower the rate of fractures, strengthen bones and reduce pain. Rodding with telescoping rods that expand as the child grows, or the non-telescoping type such as Jeannette’s, is yet another tool in the clinician’s arsenal. Treatment is complex, never-ending, and requires extreme flexibility on the part of the clinician choreographing the child’s care.
“Dr. Eberson and the other staff at Hasbro Children’s Hospital made all of us feel calm. As a parent, your mind just races everywhere…I know how much my husband has struggled with OI,” says Carol. “But knowing we have such a wonderful program for OI right here in Rhode Island has given us tremendous hope for Jeannette’s future.”
Carol adds, “We focus on the things that Jeannette can do, not what she can’t do. She loves swimming and dreams of becoming an artist. She’s a normal kid with a not-so-normal condition. We’re grateful that Hasbro Children’s Hospital was there for us when we needed them…and is here for us now.”
Jeannette Finch became the first HASBRO Champion to compete at the RIWBL All-Star Tournament. Finch finished with 15.0 points in the Opening Round of the Hitting Challenge, the fifth highest total at the 2016 event. Kristen Steiner (right), Cause Related Marketing Officer & Program Director for the Children's Miracle Network Hospitals, finished with 17.0 points, the fourth highest total at the event.
Photos courtesy of Hasbro Children's Hospital