CHOC is the largest Brineura infusion center in the country and the second largest in the world to treat Batten disease, a rare neurological condition that affects children.
When Caleb was born, his parents were thrilled to grow their family with a healthy baby boy. The first two years of Caleb’s life were typical and the family of four enjoyed spending time together. Three years later, his mother’s keen eye and a pediatrician’s intuition ultimately led to an unexpected diagnosis that would alter […]
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 […]
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 […]
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 […]
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.
CHOC’s highly specialized metabolics team identifies rare and dangerous genetic disorders before it’s too late. And early, non-invasive screening is a big reason why Henry Louderback celebrated his fourth birthday last year.Henry was one of 100,000 kids diagnosed each year with tyrosinemia type I, a deficiency of an enzyme that, if untreated, causes liver failure […]