Although not part of the Undiagnosed Diseases Network, Jill Simmons, M.D., encounters medical mysteries that have the makings of a science fiction film or novel.
As a pediatric endocrinologist with a special interest in metabolic bone disorders, she sees patients with rare, severe medical conditions. Included among those are a child who, as an infant, had no visibly detectable bone on an X-ray image due to a condition called hypophosphatasia and children who suffer from a fragile bone disorder, osteogenesis imperfecta (OI), that can leave them with dozens of bone fractures before elementary school.
With her passion for people and desire for intellectual challenges, pediatric endocrinology was a perfect fit for Simmons, who takes pride in educating and supporting families while researching better therapies for patients.
Patients like Janelly Amador Martinez, a little girl who was born with the most severe form of hypophosphatasia, are a reminder why she chose to practice medicine.
Janelly, now 9, has been followed since infancy by a care team at Monroe Carell Jr. Children’s Hospital at Vanderbilt that includes Simmons. Along with the loving care of her parents and an experimental drug therapy, Janelly has been able to develop bone.
“This is why we get into medicine—to truly make a difference in the life of a child. To go from having no bone to bone, that’s one of the most incredible things I have seen as a physician,” Simmons said.
Medicine wasn’t her first career choice. Simmons, a Knoxville native, thought she would be a stockbroker, but quickly abandoned that path after one economics class, she says lightheartedly.
As an undergraduate at University of Tennessee Knoxville, volunteer work at a local children’s hospital whetted her appetite for pediatrics.
“Endocrinology allows me to use my brain, while building good, long-term relationships with children and their families,” said Simmons, an associate professor in the Ian M. Burr Division of Endocrinology. “It’s also like a puzzle. If I can figure out what’s missing, generally I can replace it.”
She graduated from the University of Tennessee College of Medicine and completed her pediatric residency and fellowship in Pediatric Endocrinology and Diabetes at the University of Colorado Children’s Hospital and Barbara Davis Center for Childhood Diabetes.
Simmons joined Children’s Hospital in 2006.
In research, Simmons splits her work in to two tracks: bone health and diabetes.
As director of the Pediatric Program for Metabolic Bone Disease, she does a lot of research around bone disorders, including hypophosphatasia and OI.
She is about to initiate a study of subcutaneous drug therapy injections every six months to treat OI, whereas current therapy requires a five-hour infusion therapy every two to four months.
“The overriding goal for me is to improve the health of children with metabolic bone disease or secondary bone abnormalities due to other disease processes or therapies for those diseases,” Simmons said.