Rare Disease Updates

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.

by Rachel Vitolo Three pediatric faculty members, Kevin Ess, MD, PhD, Zachary Warren, PhD, and Derek Williams, MD, MPH, have been elected to the American Pediatric Society (APS), one of the nation’s oldest and most renowned academic societies. The APS, founded in 1888, was the first North American honorary society for academic pediatricians. Members are recognized for leadership, teaching, research and contributions at an international level. As of this year, there are currently 34 Department of Pediatrics faculty who are members of the APS.

  Vanderbilt University Medical Center has been named a National Organization for Rare Disorders (NORD) Center of Excellence, joining 31 medical centers as part of an innovative network seeking to expand access and advance care and research for rare disease patients in the United States.

Theodore Gray was born on May 13, 2021, a few weeks early — small, but seemingly healthy. His parents, Amanda and Coty, soon took him home to Waverly, Tennessee, to join big brother Tony, 7, who had prayed for a little brother.

by Nancy Humphrey A new institutional initiative will offer a secure and easy way for physicians at Vanderbilt University Medical Center to ask for help interpreting genetic test results for their patients. The Genetics E-consult initiative, which has completed an eight-month trial run and is ready for a rollout throughout VUMC, allows physicians who have ordered genetic testing to ask for help clarifying the often-complicated results, at no additional cost to the patient.

Vanderbilt Specialty Pharmacy (VSP) has received accreditation from the Utilization Review Accreditation Commission (URAC) as a Rare Disease Pharmacy Center of Excellence. VSP is the eighth specialty pharmacy in the United States and one of only three health system-based specialty pharmacies to receive this designation.

On Tuesday, July 20th we had our first Adrenoleukodystrophy (ALD) Clinic at VUMC. ALD is a rare genetic peroxisomal metabolic disorder that affects myelin, the membrane that insulates nerves in the brain and spinal cord. Our patients with ALD can have symptoms that generally impact the nervous system and adrenal glands...

A 9-year-old patient of Monroe Carell Jr. Children’s Hospital at Vanderbilt is the first in the world to receive an investigational gene editing therapy for Methylmalonic Acidemia (MMA), a rare genetic disorder diagnosed at birth...

Our Staff Spotlight this month is Elizabeth Hinckley, Clinical and Translational Research Coordinator for Pediatric Neurology. Elizabeth has been with VUMC since June 2020. Before moving to Nashville, she lived in Ann Arbor, MI and worked at the University of Michigan. At U of M she worked in the Psychiatry Department managing clinical trials that explored the neural mechanisms of mind-body therapies in the treatment of adult post-traumatic stress disorder...

Dylan May’s 6-month-old baby photo shows a smiling face and bright blue eyes — the appearance of a seemingly happy, healthy baby. After a normal pregnancy and perfect delivery, Dylan was the third child for Amy and Phil May, who live in Franklin, Tennessee. Dylan also had a flawless newborn screening, which involves a simple blood test at birth to check for numerous diseases — currently 69.