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 ability to metabolize galactose. Galactose is present in many foods, including dairy products. It is inherited in an autosomal recessive manner.
Symptoms of galactosemia may include failure to thrive, gastrointestinal problems, hypoglycemia, and liver dysfunction. If left untreated, galactosemia can lead to serious complications such as cataracts, intellectual disability, speech difficulties, and neurological problems.
Strict adherence to a galactose-restricted diet can help manage the symptoms and reduce the risk of complications. However, even with dietary management, many children with galactosemia may still experience intellectual disabilities and other problems.
As noted by Brittany, parents of children with galactosemia have many concerns, including how their child will develop and interact with others.
For more information about this, and other metabolic disorders, go to checkrare.com/diseases/metabolic-disorders/