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.
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.