Thank you to the Denise D'Ascenzo Walk to Fight Rare Disease for adding Galactosemia Foundation to this years list of benefitting organizations (and for making the process to do so simple).
What is Galactosemia? Why should you choose to support Galactosemia Foundation?
Galactosemia is a rare disorder, classified as an orphan disease, caused by a genetic mutation that affects how galactose (a sugar found in many foods) is broken down in the bodies metabolic pathway. In the U.S. only an estimated 3,300 individuals are living with Galactosemia, with about 80 babies diagnosed each year. Most infants are diagnosed through state-level Newborn Screenings (learn about CT's program here). Missing this diagnosis at birth can have severe complications; breastmilk and many common formulas contain galactose which can lead to liver damage/inflamation/failure, swealling around the brain, kidney issues, and sepsis shortly after birth. These complications are typically abated once a dairy-free diet is started. Galactose is however naturally produced within our bodies, so individuals with Galactosemia can have lifelong effects and complications including cataracts, neurological impairements (such as tremors and seizures), learning disabilities, speech disorders, ovarian insufficiency and related hormone and growth challenges.
There is not a lot of research on the disease and there is currently no drug to treat it.
Currently, Galactosemia is treated through diet modification alone.
In November 2024, the Galactosemia community received the heartbreaking news that Govorestat, which was to be the first and only potential treatment for Classic Galactosemia, did not recieve FDA approval. You can read more on this on the Galactosemia.org news page. The community needs more funding to continue researching and working towards treatments to improve the lifestyle of those with the disorder.
