Pediatric Geneticist Provides Diagnosis and Treatment for Children with Rare Diseases

Inspired to Solve Puzzling Cases

Over 7,000 rare diseases affect more than 30 million people in the United States (US). However, with a US population of more than 331 million, many physicians do not encounter a single patient with a rare genetic disease over their entire careers. When they do, they turn to specialists like Neena Champaigne, M.D., a pediatric geneticist at MUSC Children’s Health for correct diagnosis and treatment. “I love the puzzle aspect of genetics. There are 1,500 different metabolic conditions across a wide range of categories. As a geneticist, I get to put the pieces together and try to solve that puzzle–there are different answers for different conditions,” says Champaigne. “My relationship with a family can start with that very first phone call to talk about an abnormal finding on a newborn screening. We start right there trying to help them avoid the long-term consequences of these conditions.”  

Champaigne, an Associate Professor and Division Chief in the Department of Pediatrics, comes to MUSC after twelve years at the Greenwood Genetic Center in Greenwood, South Carolina. Champaigne completed medical school and a residency in pediatrics at the University of Texas Medical Branch at Galveston and a second residency in genetics at the University of Texas Health Science Center in Houston. She is also certified in biochemical genetics–making her one of only two biochemical geneticists in SC and one of only about 150 physicians with this specialty nationwide.   

Biochemical geneticists are uniquely qualified to provide comprehensive care including diagnosis, management, and genetic counseling for patients with inborn errors of metabolism–many of whom are identified through routine newborn screening programs. “There’s usually not any outward indication that an infant has one of these conditions, making screening an important system to help us identify at-risk babies who can benefit from early intervention and treatment,” says Champaigne. Because the condition is genetically determined, patients need long-term care. “I start working with the family shortly after their child’s birth, and I stay with them throughout their lifespans–from infancy and childhood to adolescence and adulthood. Having this relationship is really special. I become like an extended family member because we work together so closely for so long.”

Many rare genetic diseases alter the metabolism of nutrients such as proteins. Treatment often involves medications and dietary manipulation and require a metabolic support team including dieticians, clinical psychologists, and genetic counselors. But advances in biologic therapies have begun changing the outlook for some of these patients. “So many new therapies are now being developed” says Champaigne. “For example, there’s a new enzyme replacement therapy for patients with phenylketonuria or PKU–one of the most common conditions we see. When it works, it’s life changing. Those individuals can begin to eat a normal diet for the first time in their lives.”

A desire to help develop new treatments was a driving motivation behind her decision to come to MUSC. “I wanted the opportunity to work with these new therapies in clinical trials, and there’s a very well-developed pediatric clinical trial support group here,” says Champaigne. Being at a medical center with state-of-the-art technology and a broad spectrum of specialists and sub-specialists is also an advantage. “Genetic conditions come with many complications and I can collaborate with a variety of specialists here. My patients with multi-system involvement can get the care they need more easily. For example, a liver transplant can be curative in a patient whose disorder is confined to the liver, and there’s a great transplant team I can work with here.”

Access to a comprehensive medical facility can be particularly important for those whose genetic condition was not identified in infancy. “These patients have already been to multiple physicians and had many evaluations to try to figure out their diagnosis. By the time they get to us in genetics, they’re ready for their diagnostic odyssey to end. I really enjoy being the person who helps them find the answer, who can give them a diagnosis and a starting place for treatment,” says Champaigne.

Champaigne sees patients at MUSC’s R. Keith Summey Medical Pavilion in North Charleston and at the Shawn Jenkins Children’s Hospital in downtown Charleston. If you would like to make an appointment with Dr. Champaigne or refer a patient, please call 843-876-0444.