Nicole Casale (President) and Brittany Cudzilo (Vice President) of the Galactosemia Foundation are both mothers of children with Type 1 galactosemia. In this video, they describe the mission and goal of the Foundation: (1) to educate, support, and provide advocacy for those affected by galactosemia and (2) to network with professionals to inspire treatment and advance and fund research of this genetic disorder.
Type 1 galactosemia is a rare genetic disease that can be life-threatening in newborns and can lead to lifelong cognitive, neurological, and speech complications, as well as primary ovarian insufficiency in girls and women.[1] Type 1 galactosemia is caused by mutations in the GALT gene, leading to a profound deficiency of the GALT enzyme. This enzyme is required to break down galactose, a simple sugar endogenously produced by the body that is also found in dairy and other foods including breast milk.[1,2] A diet that restricts lactose and galactose is lifesaving in the first weeks of life. However, dietary intervention is inadequate in preventing long-term complications of the disease. The body produces significant, continuous levels of galactose, which is hypothesized to contribute to the long-term complications.[1]
Nicole Casale said, “When you get that diagnosis, it is a shock for families, because it is most likely something you haven’t heard about.” She continued, “Just being able to connect them with families who have been in their shoes” is so important.
Brittany Cudzilo explained that with classic galactosemia, a treatment beyond dietary restriction is critical, because the body of a person with classic galactosemia “is already producing more galactose [by itself] than that person might accidentally intake.” She added, “And there is nothing we can do about it.” This results in many of the complications that her own daughter experiences. “We can only watch for the symptoms, and treat for the symptoms,” said Brittany. “We need a treatment that will bring down the poison that [the accumulating galactose makes]” to allow her daughter to continue towards a normal childhood.
To learn more about this rare genetic disease, visit our Type 1 Galactosemia Roundtable Discussion and our Type 1 Galactosemia Resource Center.
References
- Berry GT. Classic Galactosemia and Clinical Variant Galactosemia. 2000 Feb 4 [Updated 2021 Mar 11]. In Adam MP, Ardinger HH, Pagon RA, et al., editors GeneReviews®. Seattle (WA): University of Washington. Seattle: 1993-2021. https://www.ncbi.nlm.nih.gov/books/NBK1518/. Accessed July 30, 2021.
- Delnoy B, Coelho AI, Rubio-Gozalbo ME. Current and future treatments for classic galactosemia. J Personalized Med. 2021;11(2):75. https://doi.org/10.3390/jpm11020075
