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)

Disease transmission and treatment/prevention

There is no way to prevent development of galactosemia since it’s an inherited genetic disorder. Those unaffected by this disorder inherit two “normal” genes for the production of the GALT enzyme — the one needed to convert galactose into a usable form for the body — and have normal enzyme activity (“Galactosemia”). A carrier of galactosemia inherits one normal GALT gene from one parent, but the gene from the other parent contains an error. A person with classic galactosemia must inherit the error-prone gene from each parent, making it a recessive gene. They have virtually zero GALT enzyme activity (“Understanding Galactosemia”).

(Newborn Screening Info)

Galactosemia is most common in people from Ireland — it affects one in every 24,000 Irish babies, compared to one in every 30,000 to 60,000 babies in the United States (“Genetic Fact Sheets”).

Since nearly all states require classic galactosemia testing for newborns, it is relatively easy to identify the disease early on. Treatment includes having galactose, a primary breakdown of lactose, entirely removed from the body. This means babies cannot have milk or foods containing milk products. The banned foods list eventually grows to include legumes, organ meats, and processed meats, all of which have high levels of galactose. Those afflicted must also check to see if pills use lactose as a filler; physicians recommend galactosemic babies consume soybased and casein hydrolysate-based formulas (“Galactosemia,” Medical Dictionary).

These children are also typically given calcium supplements since their calcium is typically low from not eating or drinking milk products. They also need regular blood and urine tests, which are used to detect toxic substances (“Genetic Fact Sheets”).

(Texas Department of State Health Services)

Although treatment can help offset some of galactosemia’s worst symptoms, no one can yet be completely cured of the disease. This is partly due to the disease’s relatively infancy since discovery, but also because the body produces galactose, meaning symptoms cannot be entirely eliminated (“Genetic Fact Sheets”).

If the disease is identified within the first 10 days of life, babies have an increased chance at normal growth, development and intelligence. However, if it is identified after this time frame, children experience the most adverse side effects of the disease (“Genetic Fact Sheets”).

It seems physicians and researchers have developed the best possible treatment given the limited understanding of the disease. However, these treatment measures clearly are not enough. Because this disease is so rare, the only suggestion I have for improved treatment measures is that research needs to continue in this field. Additionally, more effort should be placed on developing galactose- and lactose-free foods so that people afflicted with this disease can have an expanded diet, thereby increasing their chances for a fuller and healthier life.

Here is a quick summary of what is so far understood about galactosemia:

(YouTube)

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.

Review of a popular media piece

Since galactosemia is so rare, there isn’t much in the media about it. I did, however, find an article from a small newspaper called the Quad-City Times that chronicled the story of a mother discovering her newborn son had galactosemia (Baker). The story used this anecdote to anchor the central idea of the story: Iowa is the most efficient state in quickly identifying potential metabolic and genetic disorders in newborns because of how quickly they transport blood samples to a lab for analysis.

Without early identification, meaning within the first 10 days of life, galactosemia’s effects can be deadly. Babies do not possess the GALT enzyme to break down galactose, a simple sugar present in milk and many other food products, which makes galactose a poison to their bodies. This article used its leading anecdote, which mentioned the baby’s refusal to drink his mother’s milk, before launching into the relief the mother experienced by identifying galactosemia early on. Her son, now five years old, still experiences the disease’s symptoms, but has learned to live with his ultra-restrictive diet.

(Deidre Baker/Quad City Times)

While the article tapped into a relatively unexplored subject in the media — newborn screening — it did not use enough sources, whether studies, experts or physicians, to better explain the danger in taking too long to send newborn screening exams to labs for analysis. The mother’s son is only one of thousands of cases every year, and the article did not mention any other diseases. It simply explained galactosemia, which is certainly acceptable for a news article, but it did not explain galactosemia’s symptoms nor sufficiently illustrate the risk of death associated with the disease.

It’s especially interesting to me to read health and science articles because I want to become a health and medical writer. This article illustrates many common problems with stories that seek to explain complicated topics — it is overly simplistic and does not use enough research nor expert input to craft a more in-depth piece. Galactosemia is poorly understood, even by researchers and physicians, as are many other rare diseases in children — the article should have made mention of these complexities as well to even further emphasize the importance of quickly evaluating newborn screening tests.

Since this was a news article, there is no implicit opinion. However, the article’s newsworthiness centers around Iowa’s efficiency in analyzing newborn tests compared to other states; the author should have found anecdotes from other states in which blood tests were given to labs too late, or an incident in which a newborn’s health was impeded for life due to the hospital and lab’s inefficiency. Rather than speaking in vague terms with no research or expert to back it up, the author should have done more research and reporting to better explain to readers the dangers of galactosemia and other diseases like it that need to be identified early.

References

Baker, Deidre. "State lab director: 'It's all about the babies'."Quad City Times [Davenport] 17 January 2014, n. pag. Web. 19 Jan. 2014. <http://qctimes.com/lifestyles/health-med-fit/state-lab-director-it-s-all-about-the-babies/article_e42de17a-dd2b-5472-a20c-b8bbead367cc.html>.

Bosch, Annet, Martha Grootenhuis, and Henk Bakker. "Living With Classical Galactosemia: Health-Related Quality of Life Consequences." Journal of the American Academy of Pediatrics. <http://pediatrics.aappublications.org/content/113/5/e423.full>.

"Galactosemia - A family’s fight against a rare disease."Hope and Promise. Boston Children's       Hospital. Web. 18 Jan 2014. <http://stemcell.childrenshospital.org/hope-and-promise/galactosemia-a-familys-fight-against-a-rare-disease/>.

"Galactosemia." Genetics Home Reference. U.S. National Library of Medicine, 13 Jan 2014. Web. 18 Jan 2014. <http://ghr.nlm.nih.gov/condition=galactosemia>.

"Galactosemia." The Free Dictionary. The Free Dictionary. Web. 18 Jan 2014.

"Genetic Fact Sheets." Screening, Technology and Research in Genetics. STAR-G. Web. 18 Jan 2014. <http://www.newbornscreening.info/Parents/otherdisorders/Galactosemia.html

"Liver Disease Information." American Liver Foundation. American Liver Foundation, 04 Oct 2011. Web. 18 Jan 2014. <http://www.liverfoundation.org/abouttheliver/info/galactosemia/>.

"Understanding Galactosemia." Galactosemia Foundation. Galactosemia Foundation, n.d. Web. 18 Jan 2014. <http://galactosemia.org/Understanding_Galactosemia.php>.