A note from Dr. Adeline Vanderver, Elliott's neurogeneticist
Elliott is like all children, unique in his gifts and a special part of the lives of those around him. What is not unique about Elliott is that he, like about one in every 7,000 children born in the United States, has a problem with a special part his brain, vital to his normal functioning. Elliott has not developed normal myelin, the critical insulation around the nerve fibers of the brain, and because of this, his nervous system cannot help him develop as other children his age do effortlessly and naturally.
Elliott has severe complications related to the problems with his nervous system, including epilepsy (or seizures), low tone, difficulties with feeding and limited ability to communicate even with those who love him most. His parents have learned to understand, if not accept, that he might never do the things typical little boys his age grow to do.
What his parents cannot understand, or accept, is the fact that the doctors cannot name, and thus even begin to understand, what is causing Elliott’s difficulties. Elliott has had blood tests, urine tests, cerebrospinal fluid tests, a series of MRIs and CT scans, all to no avail. Elliott is one of the nearly millions of Americans living with a rare disease, but in addition, he has no diagnosis.
Lack of a diagnosis means no understanding of the disease at play in Elliott’s body, and most importantly, no hope of every advancing towards a treatment or a cure. Over half of the 1 in every 7000 children born with a genetic problem of the myelin never achieves a diagnosis.
In answer to this heartbreaking problem, Dr Vanderver began the Myelin Disorders Bioregistry Project. This project currently encompasses nearly a thousand families with an undiagnosed myelin deficit. Using advanced genetic technologies, called next generation sequencing, Dr Vanderver is slowly changing the percentage of cases that remain unsolved. She aims to decrease unsolved cases like Elliott’s to fewer than 10%. Even more importantly, understanding the genetic cause of a disease can ultimately lead to treatment, and Dr Vanderver is currently helping to plan clinical trials in three rare genetic conditions for which she helped identify the gene.
Help us change what faces Elliott’s family and those like him around the country.
Children's National Hospital
The Center for Genetic Medicine Research, at the Children’s National Health System, researches, diagnoses, and treats genetic disorders--diseases and conditions in children that are caused by inherited genes that don’t function normally. Founded in 1999, the Center emphasizes translational research (bench-to-bedside) and harnesses emerging technologies for genetic and proteomic analysis. Approximately 80 scientists (including 25 faculty) stress open, collaborative, multidisciplinary research.
Adeline L. Vanderver, MD, is a child neurologist with special expertise in biochemical genetics. Clinical research interests include undiagnosed neurogenetic disorders and leukodystrophies, with research protocols aimed at providing diagnosis. In addition, she provides molecular diagnosis of Alexander disease, megalencephalic leukodystrophy with subcortical cysts, and eIF2B disorders (vanishing white matter disease), as well as a rapid cerebrospinal fluid test for eIF2B related disorders. She is also exploring abnormal protein production in eIF2B related disorders and the etiology of hypomyelinating (or pelizaeus merzbacher-like disorders) leukodystrophies.
William Davis Gaillard, MD, an internationally recognized expert in pediatric epilepsy and imaging, is Chief of the Division of Epilepsy, Neurophysiology and Critical Care Neurology at Children's National. He also is the director of the IDDRC imaging core and associate director of the Center for Neuroscience Research, Children’s Research Institute.His academic appointments include professor of Pediatrics and Neurology at George Washington University and professor of Neurology at Georgetown University.
As Division Chief of Epilepsy, Neurophysiology and Critical Care Neurology, he directs a team of pediatric specialists who see thousands of patients each year. Dr. Gaillard has worked throughout his career to care for children and young adults with epilepsy from the onset of seizures, through novel therapeutic interventions, medication trials, and, when appropriate, surgery. Treatment at Children's National addresses the full range of the condition, including problems of difficult-to-control epilepsy. Additionally, treatment includes the concurrent social, educational, and emotional issues faced by children with the condition and their families.