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 impaired ability to metabolize galactose. Galactose is a monosaccharide commonly found in lactose, the main carbohydrate in milk and dairy products. The disorder results from mutations in specific genes responsible for encoding enzymes involved in the Leloir pathway, which is essential for the conversion of galactose to glucose.
Children with this condition have to adhere to a very strict, dairy-free diet. However, they may still develop some long-term complications such as intellectual disability, speech difficulties, and neurological problems.
As stated by Brittany, participating in a clinical trial to test new treatment options for galactosemia has been complicated. However, she is hopeful that the short-term sacrifices are worth the long-term benefits.
For more information about this, and other genetic disorders, go to checkrare.com/diseases/congenital-and-genetic-conditions/
