English 10 Period 1
7 Mar. 2012
In Walmart that top shelf is easy to reach for some people but for little people it’s just not the same. This topic is about Achondroplasia, otherwise known as dwarfism. One of the important things to know about this disease is that there is no known treatment. Causes of the disease need to be a major focus of research because the first thing people want to know is how it happened. The symptoms of the disease are important. Although dwarfism is inherited it is not the only way you could, also can get it from the FGFR3gene. (Schoenstadt). Achondroplasia is a very hard disease to live with the three main things to know are the causes, treatments , and symptoms of the diseases.
At this time there is no treatment for the underlying genetic anomalies that cause Achondroplasia, however there are some treatments for the anatomical and physiological symptoms that can accompany this disorder (Carson-Dewitt 2006). One treatment that aims to partially correct the most obvious symptom of Achondroplasia, short stature, is the controversial limb lengthening surgery (LLS). This surgery was first attempted in Russia in the 1950’s (Murphy 2002). The ultimate goal of this surgery is to add 12-14 inches of height. In order to achieve this effect the bones of the lower leg are surgically broken and wires attached to an external apparatus, which hold the bone in place. Screws are turned on this external apparatus gradually moving the bone apart and forcing the bone to grow longer as the body heals the gaps (Murphy 2002). There is counseling and seminars that the Little People of America (LPA) organizes. People learn to live with there disorder by going to counseling sessions so they can express there feelings but its just not enough when an average height person is telling a little person it will all get better and that they understand but reality is they don't get how much they struggle.
One possible cause is a genetic mutation in the fibroblast growth factor receptor 3 (FGFR3) gene located on chromosome 4. The other possible cause is that the condition can be inherited from a parent with Achondroplasia. This is a genetic mutation cause and how it happens “The protein made by the FGFR3 gene is a receptor that regulates bone growth by limiting the formation of bone from cartilage” (a process called ossification), particularly in the long bones. Researchers believe that mutations in the FGFR3 gene cause the receptor to be overly active, which interferes with ossification and leads to the disturbances in bone growth seen with this disorder”(Schoenstadt). In a simpler way of saying it the FGFR3 gene is the one gene that causes the genetic side of causes. Now lets talk about how inheritance plays a big part in this.
The other cause is by inheritance this is a explanation. Achondroplasia can also be inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. In these cases, one of the parents with Achondroplasia passes on the FGFR3 gene to the child. If one parent has Achondroplasia, children have a 50 percent chance of inheriting the FGFR3 gene. “If both parents have Achondroplasia, children have a one in four chance of inheriting the gene from both parents. Newborns who inherit both genes are considered to have a severe form of Achondroplasia, where survival is usually less than 12 months after birth”(Schoenstadt). If both of the parents have the gene there is a 75% of the child being born with it and for severe cases the child doesn't live past 12 months . The next topic will be symptoms. Achondroplasia can often be diagnosed at birth, as even in the newborn it is possible to see the difference in proportion and size from a typical newborn. Often times even at birth the head and trunk will be normally sized but the limbs will be disproportionate in size...