Though facing a rare disease, Oliver and his family found a diagnosis and hope at CHOC through the help of rapid whole-genome sequencing.
Metabolics
Batten disease patients highlight CHOC’s growing reputation as 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
From just a tiny sample of blood, a lab can test for 35 rare diseases in newborns that if left undetected could lead to seizures, developmental delays, permanent brain damage or death. September is Newborn Screening Awareness Month and Dr. Jose Abdenur, director of CHOC’s metabolic laboratory, stresses the importance of these newborn screenings in […]
Searching for hope while living with a rare disease
Rocio Macias was driving when her 4-year-old daughter, Isabella, coughed from the backseat. “Are you OK?” Rocio asked. “I’m OK,” Isabella answered with a giggle. While likely mundane for many parents, this exchange is the stuff dreams are made of for Rocio, the mother of a child with a devastating rare disease. “She’s doing well […]
Three gifts support mental health, research and neonatal care
CHOC is so grateful to recently have received three very generous gifts that will help CHOC continue to care for more than 185,000 babies, kids and teens each year. CHOC believes that all children deserve a chance at a happy, healthy childhood. Transformational gift to benefit the pediatric mental health system of care CHOC received […]
Overcoming Epilepsy: Gabriel’s Story
On bad days, Gabriel would experience up to 50 seizures. Today, he is an intelligent, creative and artistic 12-year-old who dreams of being a paramedic when he grows up.
