Achondroplasia

Achondroplasia

This article relates to Big Girl Small

In Rachel DeWoskin's novel, Big Girl Small, Judy Lohden has achondroplasia, a genetic bone growth disorder that results in short-limbed dwarfism (responsible for about 70% of all dwarfism cases). The word "achondroplasia" literally means "without cartilage formation," however, the term is a bit of a misnomer as the body of a person with achondroplasia is able to form cartilage but then fails to convert it to bone (especially in the long bones, i.e. arms and legs). This happens when there is a mutation of the FGFR3 gene (the gene responsible for producing a protein that develops and maintains the growth of bone and brain tissue), which then causes disruptions in skeletal development.

Affecting 1 out of every 15,000 - 40,000 births, a person can get the gene one of two ways - via genetic mutation or by inheriting the gene from one or both parents. According to the U.S. National Library of Medicine, achondroplasia "is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder." So in other words, if a child receives the gene from one parent, the child will have the disorder.

"About 80 percent of people with achondroplasia have average-size parents; these cases result from a new mutation in the FGFR3 gene... In the remaining cases, people with achondroplasia have inherited an altered FGFR3 gene from one or two affected parents," states the NLM. A child has a 50 percent chance of inheriting the disorder if one parent has the condition and a 75 percent chance if both parents have it.

The most recognizable traits of achondroplasia include short stature (the average height for men with this condition is 4', 4", and is 4', 1" for women), shortened upper arms and thighs, disproportionately large head-to-body ratio, decreased muscle tone (the amount of resistance a muscle has to movement), bowed legs, a prominent forehead, and abnormal spacing of fingers in which the middle finger and ring finger separate, giving the hand a three-pronged "trident" appearance. There are also many health problems associated with the disorder as well including "episodes in which breathing slows or stops for short periods (apnea), obesity, and recurrent ear infections." Though there is no cure for this condition, many of the associated symptoms can be treated.

It is quite possible that the greatest challenge facing people with achondroplasia has less to do with the inconveniences of being small or the technicalities of their physical condition and more to do with being unfairly stereotyped by society as clownish or less capable, and being the object of hurtful jokes and harassment. In the video below, Nichola Dean and Stefan Garde discuss their experiences living with achondroplasia, and help educate people and encourage them to look past the stereotypes.

Filed under Medicine, Science and Tech

This "beyond the book article" relates to Big Girl Small. It originally ran in June 2011 and has been updated for the July 2012 paperback edition. Go to magazine.