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.
Our families story.
My family is directly effected by Galactosemia. We personally have been fortunate, with limited complications to date, but the start of our journey was not easy. As with many others, it started with a startling phone call, confusing information, misinformation, and a month of waiting to learn more. Other things to know:
- We have never met another person with galactosemia in person.
- We have never had a medical provider with prior experience directly with Classic Galactosemia. While this has improved, we have historically had to explain the disorder based on our own knowledge to most providers, and initially had to go to specialists armed with questions in order to ensure a positive treatment approach. This isn't to say we don't appreciate all our of team deeply; it's just the reality of our journey. Their input and medical knowledge is valuable, just limited because the research is limited.
- We are always anxious about what the future holds. No one wants to see their child struggle.
We keep our personal story limited on the internet intentionally, but are glad to share more details about our journey in more personal settings. The most important thing we can say is, thank you for recognizing our community and for helping us improve the future for others who will share a similar story.
Learn more about Galactosemia at https://galactosemia.org/
