Dr. Cynthia M. Powell

I am a clinical geneticist and a pediatrician with a deep interest in undiagnosed and rare genetic disorders. I provide medical care for children and adults with chromosome 22q11.2 deletion syndrome and diagnostic evaluation for patients with symptoms and signs of genetic disorders, when evaluations have not provided a specific diagnosis. Dr. Shashi is rated as a Distinguished provider by MediFind in the treatment of Achalasia Microcephaly Syndrome. Her top areas of expertise are DiGeorge Syndrome, Hypotonia, Immune Defect due to Absence of Thymus, and Micrognathia.

Marie Mcdonald is a Pediatrics provider in Durham, North Carolina. Dr. Mcdonald is rated as a Distinguished provider by MediFind in the treatment of Achalasia Microcephaly Syndrome. Her top areas of expertise are Fabry Disease, Hypotonia, Spondyloepimetaphyseal Dysplasia Strudwick Type, and Microcephaly. Dr. Mcdonald is currently accepting new patients.

I’m a pediatric neurologist and chief of pediatric neurology at Duke. My specialty is pediatric epilepsy. It’s extremely rewarding to treat a child because you are changing the life of not only the patient but also of their family. The most important thing in treating a patient is listening and forming a connection. You have to know where the patient and the family are coming from. By listening and observing, I can better understand their needs and then apply the most advanced knowledge and technologies to help them. There is a lot of patient education that goes on and it’s very important and most delightful to do that in close partnership and alliance with the family particularly in an often complex disorder like childhood epilepsy. Outside of work, I enjoy classical music, reading, biking, jogging and traveling, but what I truly enjoy most of all is taking care of patients. Dr. Mikati is rated as a Distinguished provider by MediFind in the treatment of Achalasia Microcephaly Syndrome. His top areas of expertise are Alternating Hemiplegia of Childhood, Epilepsy in Children, Wolf-Hirschhorn Syndrome, and Increased Head Circumference.