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 and death. As one of the largest designated newborn screening centers in California, CHOC was able to save Henry, whose medication and diet will prevent the serious and life-threatening complications of the disease.
“He was losing some weight but no huge alarms went off,” Nicole Louderback, Henry’s mother, says of his condition shortly after he was born on Sept. 20, 2010. Newborn screening tests detected the disorder before he was a week old, allowing the metabolics team to start life-saving treatment before Henry’s liver went into failure.
Henry’s now a happy, normally developing child — thanks to what Nicole calls the “incredible” work of Dr. Raymond Wang, a CHOC metabolic disorders specialist, and other members on the metabolics team.
- Batten disease patients highlight CHOC’s growing reputation as a destination for kids with rare conditionsCHOC 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.
- A lifelong battle with a rare disease: Caleb’s storyWhen 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 ...
- CHOC rare disease expert stresses importance of newborn screeningFrom 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 ...