To try and decipher the puzzle of Clara’s brain, she undergoes a comprehensive evaluation multiple times a year with renowned neuro rare disease expert, Dr. Maria Escolar and her team at the Children’s Hospital of Pittsburgh’s Brain Care Institute, Program for the Study of Neurodevelopment in Rare Disorders.
Maria Escolar, MD, is Founder and Director of theProgram for the Study of Neurodevelopment in Rare Disorders at Children’s Hospital of Pittsburgh. In 2000, Dr. Escolar established the Early Childhood Clinic at the Clinical Center for the Study of Development and Learning at the University of North Carolina at Chapel Hill to provide comprehensive care for children affected by Krabbe disease and other lysosomal storage disorders. This program became the Neurodevelopmental Function in Rare Disorders program and gradually expanded to include other rare neurodegenerative disorders. In 2011, the program moved to the Children’s Hospital of Pittsburgh of the University of Pittsburgh Medical Center and was renamed the Program for the Study of Neurodevelopment in Rare Disorders.
Dr. Escolar is nationally and internationally known for her work in neurodevelopment of children with leukodystrophies and mucopolysaccharidosis. Her research focuses on behavioral and neuroimaging outcome measurements.
Dr. Escolar earned a medical degree at Escuela Colombiana de Medicina in Bogotá, Colombia in 1986; Master of Science in Human Nutrition at Columbia University College of Physicians and Surgeons, New York, NY in 1988; and continued her training in Child Development and Behavioral Pediatrics at New York Hospital–Cornell Medical Center.
Adeline Vanderver, MD, is Program Director of the Leukodystrophy Center of Excellence at CHOP and heads the LeukoSeq Whole Genome Sequencing research project that mapped Clara’s human genome. Under Dr. Vanderver’s leadership, the multidisciplinary Leukodystrophy Center team is focused on creating new standards of care for children with leukodystrophies by advancing leukodystrophy gene discovery, creating new therapies, and supporting and advocating for patients and their families. In parallel with this strong clinical program, Dr. Vanderver’s preclinical and clinical research projects will aim to discover molecular therapeutics that target the genetics of leukodystrophy subtypes.
In addition to her clinical and research efforts, Dr. Vanderver leads the Global Leukodystrophy Initiative, an advocacy group that includes parents, clinicians and researchers, to raise disease awareness and ensure that patients receive appropriate social and medical support.
Dr. Vanderver graduated with a degree in medicine from Universite Catholique de Louvain in Brussels, Belgium. She completed her residency in pediatrics at Nemours/A.I. duPont Hospital for Children in Wilmington, DE, and Thomas Jefferson University in Philadelphia, PA. She then pursued a child neurology fellowship at Children’s National Medical Center in Washington, DC, and a fellowship in biochemical genetics at the National Human Genome Research Institute/National Institutes of Health in Bethesda, MD.
We are also eternally grateful to Children’s Hospital of Los Angeles for making the initial diagnosis of this rare condition on what was supposed to have been a routine MRI of Clara’s ears. Because of this, Clara will have the earliest intervention possible, before symptoms even begin, to help improve her long-term outcome. The CHLA team of doctors, nurses and support staff were so caring and supportive as we went through the first moments of realization about the journey ahead. Clara remains in the care of CHLA for local specialized care.
Last but not least, as they say, it takes a village and our Pediatrician, Dr. Holly Wang at KinderCare Pediatrics is an important part of #TeamClara.
Coordinating care with the specialized facilities which are both back east means lots of local testing, treatment and procedure needs must be handled in Los Angeles. Dr. Wang has been beside us every step of the way.