by CheckRare Staff | Jun 8, 2023
Brittany Cudzilo, a parent of two children with galactosemia, describes her daughter’s experience in a clinical trial testing a new treatment for this rare condition. Galactosemia is a rare, autosomal recessive, inborn error of metabolism. It is characterized by the...
by CheckRare Staff | Jun 7, 2023
Brittany Cudzilo, Vice President of the Galactosemia Foundation, and parent of two children with galactosemia, describes this rare condition and the impact it has had on their family. Galactosemia is a rare, genetic, metabolic disorder that affects an...
by CheckRare Staff | May 23, 2023
Progressive familial intrahepatic cholestasis (PFIC) is a group of rare genetic diseases that result in reduced bile flow from the liver, also called cholestasis. It commonly presents in infants and early childhood. First identified in 1965, the genetic dysfunction in...
by CheckRare Staff | May 16, 2023
Brittany Cudzilo, Vice President of the Galactosemia Foundation, and parent of two children with galactosemia, discusses some of the common questions parents have about this rare condition. Galactosemia is a metabolic disorder that affects a child’s...
by CheckRare Staff | May 9, 2023
Constance Smith-Hicks, MD, PhD, Neurologist and Director of the Center for Synaptic Disorders at the Kennedy Krieger Institute, gives a detailed overview of Rett syndrome. As Dr. Smith-Hicks explains, Rett syndrome is a rare progressive neurodevelopmental condition...
