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 individual’s ability to metabolize galactose, which 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.
Early diagnosis and strict adherence to a galactose-restricted diet can help manage the symptoms and reduce the risk of complications. However, even with dietary management, some individuals with galactosemia may still experience long-term complications.
As noted by Brittany, the failure to thrive and other complications of the disease has dramatically impacted the entire family.
For more information about this, and other metabolic disorders, go to checkrare.com/diseases/metabolic-disorders/
