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Living with Galactosemia

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My experience with galactosemia began as an infant. When I was born, I became seriously ill from unknown reasons. We later learned after intensive care and tests that I had a severe metabolic intolerance to galactose. When my mother tried breastfeeding me, the galactose in her breastmilk had been causing me to become very ill.

Nowadays, hospitals will find and treat cases of galactosemia almost immediately, however, at the time I was born, doctors did not know of it as much, and most states did not test for such a condition. All four of my brothers were tested for galactosemia when they were born; two of them tested positive.

Galactosemia is caused by a lack of a certain enzyme, galactose-1-phosphate uridyltransferase (GALT), which the body uses to break down galactose into glucose and lactose. Every person has a pair of genes that make this enzyme. In galactosemics, these GALT genes do not properly function. Parents of children with galactosemia hardly ever have the condition themselves; each parent has a single non-working gene for galactosemia. They are carriers of galactosemia, but do not have galactosemia since their other GALT-producing gene is fully functional. Galactosemics have two non-functioning genes.
Without the GALT enzyme, galactose buildup potentially acts as a poison for the body, and can cause brain damage, liver disease, and cataracts, as well as speech impediments and occasionally hearing loss. Some who suffer from galactosemia have delayed motor skills, attention difficulties, low motivation, or shyness. About one in every 50,000 babies in the United States is born with galactosemia. Without treatment, mortality in infants with galactosemia is about 75%.

Growing up, I would often have to sit and watch while everyone else ate the birthday cake, the ice cream, etc. Going out to a restaurant to eat a meal, I must be aware of what is put in the food; if there is cheese or butter I must either ask for the dish to be served without either of the two or order a different item on the menu. If someone asked me why, I would tell them I’m allergic. This instantly causes them to think (almost every time) that I am lactose intolerant, however galactosemia is a very different, and more serious condition.

After studying the risks, causes and potential damage galactosemia can have on an individual, I must conclude that I am very blessed to be overall unaffected by this disability. I am lucky to have remained without any signs of the symptoms.




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