Though facing a rare disease, Oliver and his family found a diagnosis and hope at CHOC through the help of rapid whole-genome sequencing.
Rare Disease
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 […]
Physician Tenacity, Experimental Treatment Help Baby With Rare Disease
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 […]
Resources, Tools for Parents of Children with Rare Diseases
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 […]
5 Facts You Probably Didn’t Know About Rare Diseases
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 […]
