Patient care often begins when an individual consults their doctor about an injury or issue that has emerged and interferes with daily life. But with some conditions, symptoms develop even before a child is born. With this type of genetic condition, care may need to begin at birth and continue for a lifetime.
At the Orthopaedic Hospital Research Center on the UCLA campus, Deborah Krakow, M.D., associate professor, Human Genetics Obstetrics and Gynecology at the David Geffen School of Medicine at UCLA, studies in utero the development of skeletal dysplasias that cause dwarfism, a condition that is marked by short stature and may involve a variety of health issues. What she learns about the abnormal growth of bone and connective tissue prior to the birth of a child provides invaluable support for families affected by this condition, and will help enhance life-long health and the quality of life for these children.
Dr. Krakow, who has treated hundreds of children with skeletal dysplasias, frequently partners with Anthony A. Scaduto, M.D., LAOH President and CEO and Lowman Professor of Pediatric Orthopaedics. Both physicians see the value of care coordination that includes communication among clinicians, a team approach, and the integration of patients and families as partners.
Funded in part by a generous gift from the estate of Florence Aikens, in memory of her son David, and with the support of John A. Hall, Esq., Drs. Krakow and Scaduto have instituted a system of coordinated care at LAOH for their patients. Typically, if Dr. Krakow sees that a child will be born with an abnormality, she and Dr. Scaduto will chart a plan of treatment to be implemented at birth. “It’s incredibly comforting to patients and families to know that they have a team of physicians working together to create a comprehensive strategy on how best to help them,” says Dr. Krakow.
Because dwarfism commonly involves genetic mutations that are passed down through multiple generations of a family, Dr. Krakow’s research into the genes that cause this condition also points the way to future cures. For generations of children whose family histories are being written today by Dr. Krakow and her team, and for all children at-risk of being born with this congenital condition, this work holds life-altering promise.
“Human genetics research can take years to unfold. But the rewards are great when you are able to help an individual or family by unlocking their genetic history.” – Deborah Krakow, M.D.