Though facing a rare disease, Oliver and his family found a diagnosis and hope at CHOC through the help of rapid whole-genome sequencing.
CHOC is the largest Brineura infusion center in the US to treat Batten disease, a rare neurological condition.
His mother’s keen eye and a pediatrician’s intuition ultimately led to an unexpected diagnosis of MPS Type II.
The CHOC metabolic laboratory, one of the largest newborn screeners in California, screens babies for serious but treatable genetic disorders.
Isabella is in the early stages of a clinical trial for a drug intended to treat a rare pediatric disease called Mucopolysaccharidosis IIIA.
CHOC is grateful to recently have received three generous gifts that will help care for more than 185,000 babies, kids and teens each year.
Gabriel used to experience up to 50 seizures while living with epilepsy. Today he is a creative 13-year-old who dreams of being a paramedic.
CHOC’s specialized metabolics team identifies rare and dangerous genetic disorders before it’s too late. Meet Henry, one of their patients.
A patient is showing marked improvement after regular infusions of cyclodextrin, a compound that has helped mice with Niemann Pick C disease.