A deep brain stimulation surgery at CHOC has given 9-year-old Ryder and his family an improved quality of life.
Rare Disease
Leveraging technology to help critically ill children with rare diseases
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.
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.
Resources, Tools for Parents of Children with Rare Diseases
Parents often struggle with raising a child with genetic or rare diseases. Learn the rules of parenting and caring for these children.
