Casey and Allison share the story of their son’s Type 1 galactosemia diagnosis days after birth. Prior to receiving his newborn screening results, Brooks experienced life-threatening symptoms that resulted in intensive care to recover from the initial galactosemia neonatal crisis.
Galactosemia is a rare genetic disease that affects the body’s ability to make the enzyme that breaks down galactose, a simple sugar the body endogenously produces and is also found in dairy and other foods, including breast milk. It’s caused by mutations in the GALT gene, leading to a severe deficiency in functional GALT enzyme. This causes a toxic buildup of galactose and its metabolites including Gal-1P and galactitol.
Brooks experiences neurological and speech complications due to galactosemia. There are currently no galactosemia treatments approved, and Allison speaks about the significant unmet medical need. “A treatment for galactosemia would be incredible because as parents, we want the best for our kids,” said Allison.
Learn more about galactosemia: jaguargenether...
12 май 2022
