Staff Spotlight: February 2022

February Staff Spotlight: Dr. Kevin Ess

Our Staff Spotlight this month is Kevin Ess, MD, PhD, director of the Division of Pediatric Neurology at Vanderbilt’s Children’s Hospital. Dr. Ess is the lead neurologist of the rare disease clinics and Co-Director of the Pediatric Rare Disease Center, along with Dr. Rizwan Hamid.

When asked about the development of the Rare Disease Center, he explained that, “it was inspired by VUMC’s Leukodystrophy Care Network”. In 2017, VUMC joined the Leukodystrophy Care Network (LCN) to “bring expertise of specialists in many disciplines to the care of children with leukodystrophies including Krabbe and similar severe diseases”. Dr. Ess has served as the director of the LCN clinic since it was established and has worked with families and the Tennessee Genetics Advisory Committee to add Krabbe and other leukodystrophies to the Tennessee Newborn Screen. 

Using the Leukodystrophy Care Network as a model, VUMC’s Rare Disease Center was formed in 2020 to provide multidisciplinary care to children and adults with leukodystrophies and other rare diseases found on the newborn screen. 

Dr. Ess’s favorite part of the Rare Disease Center is working with the families he cares for, “When parents learn that their child has been diagnosed with a rare disease, it is very scary and stressful for them. Meeting families early in their journey and alleviating the anxiety that comes with a diagnosis is my favorite part of the job. I’m grateful that we get to see our patients and their families before they have any severe symptoms thanks to the newborn screen”.

When asked about the future of the Rare Disease Center, Dr. Ess explained that he plans to “expand the center to ultimately offer more multidisciplinary clinics and specialized care for patients with every disease on the newborn screen. Our goal is that every child and adult with a rare disease on the newborn screen receives excellent care from the day they are diagnosed.”  He continued, “My hope is that with this movement of precision medicine and the development of gene therapies, we will one day be able to offer effective and lifelong treatment before our patients ever have symptoms”. Dr. Ess is optimistic that the Rare Disease Center will also soon be a site for gene therapy clinical trials, “it’s a goal of ours to be able to offer cutting edge treatment to our patients”.

At this time, the Rare Disease Center offers specialized multidisciplinary clinics for patients with Fabry Disease, X-linked Adrenoleukodystrophy, leukodystrophies including Krabbe Disease, Tuberous Sclerosis Complex, and Alternating Hemiplegia of Childhood. VUMC also offers other specialty clinics for neuromuscular disorders, such as Spinal Muscular Atrophy, and more!