Review of a primary source article

Even if identified in the first 10 days of life, galactosemia is a life-long disease with life-long consequences. A group of researchers and physicians from Amsterdam set out to study — for the first time — the quality of life of galactosemia patients. In a study the first of its kind called, “Living With Classical Galactosemia: Health-Related Quality of Life Consequences,” published in 2004 by the official journal of the American Academy of Pediatrics, researchers determined that galactosemia often resulted in an impaired health-related quality of life (HRQoL).

When they began embarking on this study, researchers distributed questionnaires to all 75 members of the Dutch Galactosemia Society who have classical galactosemia, also known as type I galactosemia (the most common form and the one that is the focus of this disease blog). To keep the study controlled, all patients were expected to follow the galactose-restricted dietary recommendations in the Netherlands.

Both parents of patients aged 1 to 20 years old were asked to fill out the questionnaire, and all patients 8 years and older completed an additional questionnaire themselves. These included an HRQoL questionnaire and classical galactosemia-specific survey, which the researchers identified as their two primary tools in conducting this study. Additionally, mothers also had to answer a short list of questions about the educational level of their child and whether their children had to receive special education due to learning disabilities.

A stastical table shows that patients with galactosemia are significantly impaired in cognitive and social function, indicating that galactosemia, even when treated, does hamper those stricken not only physically, but also intellectually. The study found that galactosemia handicaps the HRQoL because galactosemia students have lower educational levels and educational attainment than their peers.  

(Bosch, Grootenhuis, and Bakker )

The researchers admit in their study that their limited Dutch population may or may not create a bias. There are clearly numerous components of galactosemia that have yet to be explored. To follow up this critical research, however, the next endeavor should seek to discover how galactosemia affects adults, and whether these adults have a chance at a normal life. After scanning numerous research articles, it appears most of the research is focused on the effects of galactosemia on children; it just as important, though, to help adults navigate this complex and poorly understood disease. Perhaps there is hope that they can overcome some of these educational obstacles, but this will not be possible if researchers do not tap into unexplored areas of galactosemia and better understand the strengths and weaknesses of these patients.