Event Description

Fundraiser for the Rare Disease Galactosemia

What is Galactosemia? 

Galactosemia is a rare genetic disease where the body cannot process the simple sugar called galactose. Since the body cannot process this sugar like it is supposed to, it builds up in the bloodstream and can cause many life-threatening side effects. Galactose is found in milk products including all milk from humans and any animals. There is no cure for galactosemia, but it is possible to live with this disease if an extremely strict no lactose diet is followed.

How is galactosemia diagnosed?

Galactosemia is found in 1 in every 30,000 to 60,000 newborns. For a child to have Galactosemia both parents must be carriers and/or have Galactosemia. It is found in the newborn screening test. In the first 24 hours of a newborn's life the doctors prick their heel to draw blood and run tests. There are multiple things that are tested for including Galactosemia. Most of the time the results of this test all come back negative, and the parents are released to take their baby home. But if a positive test comes back for any disease a second blood test is done within the next 48 hours. After this second test is done and the Galactosemia diagnosis is given, the parents are told to stop breastfeeding and give formula to their baby immediately and switch to a soy-based formula.

What can happen if a dairy free diet is not followed?

If someone with Galactosemia does not have an extremely strict diet and is overly cautious about what they eat, then many life-threatening side effects could occur. Some things that could happen if dairy is ingested include kidney issues, swelling of the brain, liver failure, sepsis, and even death. Galactose is found in many products. These include milk, yogurt, bread, anything cheeses flavored, anything with a batter coating, and organ meats. Galactose can also be hidden in things you would not think to check such as artificial sweetener, antacids, oral medications, and oral contraceptives.

Life with Galactosemia
Living with galactosemia comes with some complications but it is not much different than a normal life. The biggest difference is always being aware of what you are eating and making sure there is no cross contamination and always checking food labels. A few things that parents must be aware of that can occur in children can be learning and behavioral delays, growth issues, and issues with fine and gross motor skills. Adults living with Galactosemia must go through testing often to test for cataracts, fertility issues, bone density screening, and neurological testing. 

In conclusion, it is life threatening if a strict diet is not followed by a child that has Galactosemia.