Is it causing your baby to be sick?
After feeding your newborn daughter, she starts vomiting. She also seems not to want to eat. You take her to the doctor. They run some blood work and inform you that she has galactosemia. What does this mean for your daughter? Will she be okay? How is the condition treated?
Galactosemia is a genetic condition in which a baby can’t produce the enzyme that allows galactose (the sugar in breast milk or formula) to be broken down into glucose (your body needs this for fuel). This results in galactose building up in the bloodstream, causing numerous problems. There are three main types: classic (type I), galactokinase deficiency (type II), and galactose epimerase deficiency (type III). Type I occurs in 1 out of every 30,000 – 60,000 babies, type II is 1 out of every 100,000, and type III is very rare. Parents are often carriers of the disease but don’t have the condition themselves.
Symptoms for type I usually start a few days after a baby is born. At first, they lose their appetite and then start vomiting, followed by diarrhea. Typically, they’ll become jaundice, which means their skin and whites of their eyes will turn yellow. It can lead to severe weight loss resulting in your baby not growing or thriving. In some cases, the condition is life-threatening. Symptoms of the other types are as bad because they’re not as dangerous as type I. This is the result of the baby’s body being able to process some of the galactose rather than not at all.
Over time, if not treated, galactosemia can cause several complications, such as cataracts, liver/kidney damage, developmental disabilities, tremors, low bone mineral density, and more susceptible to infections. For girls, it can cause their ovaries not to work, resulting in infertility. Babies with type II or III have fewer issues than those with type I but still are at risk for complications, like cataracts, liver/kidney issues, and delayed growth.
The first step of treatment is early diagnosis. This is routinely done in newborn screenings at the hospital shortly after a baby is born. A small blood sample is taken from the baby’s heel and tested for several conditions, including galactosemia. Sometimes, it’s possible to get a false negative. So, if your baby has signs of the disease at a later point, their doctor will recommend follow-up blood work and urine sample to confirm that they have the condition.
Once a diagnosis has been made, you’ll need to remove any sources of lactose and galactose from the baby’s diet. This usually means using soy-based formula. As the child grows, they’ll need to avoid dairy products, such as milk, butter, cheese, and ice cream. Instead, you’ll need to use dairy-free alternatives, which could be almond/soy milk, sorbet, or coconut oil. Depending on the severity of your child’s condition, their doctor may also recommend avoiding some fruits, vegetables, and candies that contain galactose. To ensure that your child is getting all of the nutrients they need, they might have to take vitamin and mineral supplements, like calcium, vitamin C, vitamin D, and vitamin K. Girls will probably need to receive hormone treatment when they reach puberty.
Since galactosemia is a genetic condition, there isn’t a way to prevent it from being passed on to your children. However, before having children, you and your partner can be screened to see if you’re carriers, which will let you know your children’s chances of having the disorder. To prevent long-term complications, seek treatment as soon as you notice something is wrong.
Galactosemia can be a severe condition, but with the proper intervention, individuals can have healthy lives. If you have any questions or concerns about galactosemia, please speak with your doctor. If you would like more information, please visit the Galactosemia Foundation at http://www.galactosemia.org/