Disease history/statistics, etiology, and symptoms

It doesn’t trigger the same sympathetic response as cancer or diabetes, but galactosemia’s effects can be just as catastrophic. This rare genetic disorder affects how the body processes galactose, a simple sugar present in many foods (“Galactosemia”). A rare disease is defined as one that affects fewer than 200,000 people; there are nearly 7,000 rare diseases affecting about 30 million Americans, which equates to one in 10 (“Galactosemia – A family’s fight”). Galactosemia affects one in every 30,000 to 60,000 babies in the United States (“Genetic Fact Sheets”).

If identified early, galactosemia can be highly treatable through a galactose- and lactose-free diet. Children must inherit the gene for this disease from both parents, who may not necessarily be afflicted by the disorder but are carriers. Because those affected are missing the GALT enzyme, which breaks down lactose into galactose and glucose, the galactose becomes a poison to the patient’s body and causes serious complications (“Understanding Galactosemia”). These include an enlarged liver, kidney failure, cataracts and brain damage, and up to 75% of infants die if the disease goes untreated (“Understanding Galactosemia”).

(Health Central)

Fortunately, this disease can be identified in the first week of life from a heel prick, which is part of a standard newborn screening (“Galactosemia”). Even though these children are quickly put on a restrictive diet, there are quite often long-term complications resulting from the disease in speech and language, fine and gross motor skill delays, learning disabilities and ovarian failure in females (“Understanding Galactosemia”).

There are several types of galactosemia, the most common of which is type I — the highest-risk form — called classic galactosemia. The varying forms of the disease are caused by mutations in different genes that affect different enzymes involved in galactose breakdown. Researchers have also uncovered galactosemia type II, also known as galactokinase deficiency, and type III, also called galactose epimerase deficiency. Galactosemia typically does not present symptoms at birth, but the baby soon develops jaundice, diarrhea, persistent vomiting and fails to gain weight (“Galactosemia”).

Because of its rarity, galactosemia’s discovery took place over two decades. It began in 1908 when the researcher Von Ruess published an article in which he chronicled the story of an infant who failed to grow normally even though he was breast-fed, coupled with additional complications including an enlarged liver and spleen. After milk was removed from the infant’s diet, he stopped excreting galactose in his urine, but still died. It was impossible to confirm diagnosis of galactosemia at the time since it was an unknown disease, but by 1935 it was recognized and described in detail. Despite all these advances, researchers are still far from fully understanding the disease and there is still no cure (“Galactosemia”).

There are people fighting to raise awareness of galactosemia. Check out the story of Oliver Siminoff, a patient at Boston Children's Hospital fighting this disease:

(Boston Chidren's Hospital)