Though facing a rare disease, Oliver and his family found a diagnosis and hope at CHOC through the help of rapid whole-genome sequencing.
Batten disease patients make CHOC a destination for kids with rare conditions
CHOC is the largest Brineura infusion center in the US to treat Batten disease, a rare neurological condition.
A lifelong battle with a rare disease: Caleb’s story
His mother’s keen eye and a pediatrician’s intuition ultimately led to an unexpected diagnosis of MPS Type II.
CHOC rare disease expert stresses importance of newborn screening
The CHOC metabolic laboratory, one of the largest newborn screeners in California, screens babies for serious but treatable genetic disorders.
Searching for hope while living with a rare disease
Isabella is in the early stages of a clinical trial for a drug intended to treat a rare pediatric disease called Mucopolysaccharidosis IIIA.
Three gifts support mental health, research and neonatal care
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.
Overcoming Epilepsy: Gabriel’s Story
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 Treats Rare Genetic Disorder
CHOC’s specialized metabolics team identifies rare and dangerous genetic disorders before it’s too late. Meet Henry, one of their patients.
Physician Tenacity, Experimental Treatment Help Baby With Rare Disease
A patient is showing marked improvement after regular infusions of cyclodextrin, a compound that has helped mice with Niemann Pick C disease.
