Whether your child was recently diagnosed, you are waiting for confirmation results or just trying to learn more about galactosemia, you’ve come to the right place.
Galactosemia is classified as an orphan disease because it is so rare, impacting 1 in 30,000 - 70,000. There is not a lot of research on the disease and there is currently no drug to treat it.
The amount of information you’ll find on the internet can be scary and much of it is outdated because the dietary guidelines have changed over the years as more is learned through research.
Babies are first diagnosed with galactosemia during the newborn screening process, which is done in all 50 states.Learn More
Around this age, you may see early signs of developmental delays and speech problems.Learn More
Because galactosemia can impact how a child learns, they may need more support in school. Developmental delays may become more noticeable as your child begins school.Learn More
The teenage years aren’t particularly easy on anyone, but they can be especially tough for teens with galactosemia. While they are growing and working to find their place in the world, they may feel restricted by their galactosemia diagnosis, due to complications they experience and/or food restrictions.Learn More
Because galactosemia impacts everyone differently, some young adults will complete college and/or obtain stable employment. Others may have a hard time living independently because of worsening or new long-term complications.Learn More
Untreated classic galactosemia can result in serious medical outcomes, including feeding problems, cataracts, learning disabilities, neurological impairments, primary ovarian insufficiency, and speech disorders.
First discovered in 1908, Galactosemia is a rare condition where the body has trouble breaking down a sugar called “galactose.”