Osteogenesis Imperfecta can be a painful, long-term, complex condition that affects not only the bones but also a patient’s heart, lungs, hearing, skin and eyesight.
Recognizing the need for expert multidisciplinary care for pediatric patients with Osteogenesis Imperfecta, Phoenix Children’s has created a new Osteogenesis Imperfecta Clinic. Our team is leading the way in offering medical, surgical and diagnostic breakthroughs for children and teens with Osteogenesis Imperfecta.
The Osteogenesis Imperfecta team includes:
- Rachel Lombardo, MD, is a medical geneticist who is skilled in finding the genetic source of Osteogenesis Imperfecta in family carriers, which plays a critical role in complex and hard-to-diagnose cases.
- Pamela Smith, MD, is an endocrinologist who is formally trained in metabolic bone disorders, including Osteogenesis Imperfecta. Dr. Smith was diagnosed with Osteogenesis Imperfecta as a child and also has a child with Osteogenesis Imperfecta. Dr. Smith has a unique understanding of the challenges, stress and clinical underpinnings of an Osteogenesis Imperfecta diagnosis.
- Maegen Wallace, MD, is a pediatric orthopedic surgeon who received specialized Osteogenesis Imperfecta training at Nemours Children’s Hospital in Wilmington, Delaware and Children’s Nebraska in Omaha. She has performed more than 400 Osteogenesis Imperfecta surgeries and is considered a leader in surgical Osteogenesis Imperfecta interventions.
- Experts throughout Phoenix Children’s in pulmonary function, hearing loss, physical therapy, occupational therapy and pain management also provide care based on the patient’s needs.
The team’s goal is to focus on each patient’s quality of life by providing preventive care, appropriate surgical intervention and the identification of complications to ensure that treatment options are offered early, when they can be most effective.
Our Unique Osteogenesis Imperfecta Clinic
During Phoenix Children’s two-day Osteogenesis Imperfecta Clinic, patients receive testing and benefit from consultations with both the primary clinic team and other Phoenix Children’s specialists.
On the first day of the Osteogenesis Imperfecta Clinic, our team performs DEXA scans, X-rays of the spine and upper and lower extremities, pulmonary function testing and eye exams.
On the second day, patients are evaluated for physical and occupational therapy and undergo hearing tests. Your patient’s care team will meet with the family to provide an evaluation and review the test results. Having the patient’s team of providers and the family all together as part of the consultation is instrumental in developing the appropriate care plan.
Phoenix Children’s Osteogenesis Imperfecta Clinic is one of just 13 sites that are part of the Longitudinal Study of Osteogenesis Imperfecta conducted by the Brittle Bone Disorders Consortium. This research study is funded by the National Institutes of Health and seeks to improve the health and quality of life of people with Osteogenesis Imperfecta.
Specialized Surgical Expertise
Dr. Wallace became interested in Osteogenesis Imperfecta after her medical fellowship training in pediatric orthopedic surgery. “Another surgeon encouraged me to explore this very complex condition, mentoring me as I learned more about managing and treating children with Osteogenesis Imperfecta. Soon, I discovered that these kids are some of my favorite patients. Their families are truly amazing, and I really enjoy performing rodding surgery. It makes such a difference for these kids. In our field, it is unusual for an orthopedic surgeon to be involved in a child’s care for a lifetime, but I have come to really cherish these relationships.”
While her focus is on the whole patient, Dr. Wallace leads the team that assesses patients for surgical readiness and performs rodding procedures that support Osteogenesis Imperfecta patients’ bones. This surgery involves the implantation of telescopic rods, most often into the femurs, tibias and humerus bones. Based on research, Dr. Wallace recommends inserting these rods in children as young as 14 months of age, or when the children start to pull up to stand.
“We generally start with the femurs because it’s not a matter of if they break but rather when they break,” explained Dr. Wallace. “We want to place the rods as early as possible to avoid a displaced femur fracture, which is very painful. Doing it in the controlled and safe environment of the operating room allows us to provide the patient with excellent care and good pain management.”
The telescopic structure of these rods makes it possible for them to last anywhere from two to seven years.
If you have a pediatric patient with frequent bone breaks, bowed limbs or other bone disorders, our care is second to none in the Southwest. Our team is well-versed in determining a multidisciplinary course of action that helps dramatically improve outcomes. This may include genetic testing for complex cases, surgical procedures to reinforce and realign bones and medical recommendations that can enhance bone density. After referring a patient to us, providers receive frequent patient updates.
We invite you to refer a patient to Phoenix Children’s or email us to learn more at
ortho-mdc@phoenixchildrens.com.