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 […]
A toddler with a devastating rare condition has a chance for health, thanks to an experimental treatment and the tenacity of a CHOC physician. Galya Chan, 2, is showing marked improvement after nearly nine months of regular infusions of cyclodextrin, a compound that has helped mice with Niemann Pick C disease, the condition also affecting […]
Parents often struggle with navigating how to raise a child with rare or genetic diseases. CHOC provides multiple channels of support including family-centered care, which empowers parents to become as educated as possible on their child’s condition. To help on that front, the Global Genes Project – an Alieso Viejo-based organization whose mission is to […]
Imagine waiting for years to learn what is ailing your sick child, only to receive a diagnosis that you’ve never heard of. That’s often the plight of a parent of a child with a rare disease. CHOC works to diagnose, treat and support patients and families with rare conditions. Here are some facts on rare […]