Hutchinson-Gilford Essay

Custom Student Mr. Teacher ENG 1001-04 24 September 2016


Hayley Okines is just like any girl her age. She loves going to school and spending time with her friends. She goes on sleepovers and loves playing computer games. However, Hayley Okines is not like any other girl her age because Hayley Okines is a 12-year old girl with a 96-year old body (Bates, 2010). She is among the very few who suffer from a rare genetic condition called Hutchinson-Gilford Progeria Syndrome, more commonly known as the “rapid aging” disease (Burton, 2006). It was Jonathan Hutchinson who described the first case traced to progeria in 1886.

Shortly after in 1897, Hastings Gilford likewise described the condition. Thus, the name Hutchinson-Gilford Progeria Syndrome was born to credit the two who led to its discovery. This paper will discuss the different aspects of Hutchinson-Gilford Progeria Syndrome, its symptoms, causes, possible treatments, and medical advancements, with the primary purpose of gaining a better understanding of the condition. Progeria is a degenerative condition that hastens the aging process in an individual. It is manifested at an early age, usually after the first year of birth.

In this instance, growth rate and physical development slow down but the aging increases between 8 to 10 times the normal. The term “progeria” comes from the greek word “progeras” that simply means prematurely old. Progeria is one of the most unusual genetic conditions in the world. Only one for every 4 million may be diagnosed with this (Kieran, Gordon & Kleinman, 2007). In fact there are a fewer than 50 cases that are recorded in the world (Kieran, Gordon & Kleinman, 2007). The average life expectancy among individuals with progeria is 12 years old.

The most common cause of death has to do with deteriorated cardiovascular functioning. More often, individuals with progeria suffer from myocardial infraction or stroke (Meridith, Gordon, Clauss, Sachdev, Smith, Perry,… Introne, 2008). The oldest case that has been recorded of progeria is that of a Japanese man who battled the condition until the age of 45. However this case is extraordinary as individuals with progeria rarely reach the age of 20. The first symptoms of progeria are effectively detected between the ages of 9 and 12 months old.

Individuals with progeria are born normal, however by the first year of life, they begin to exhibit deterioration in physical growth. The first physical signs of the condition are slowed progression in weight and height. Individuals with progeria have a distinct appearance. They have small fragile bodies with wrinkled skin. Beak-like noses and small jaws highlight their small faces. Most of these individuals have high-pitch voices (Keiran, Gordon & Kleinman, 2007) as well. Other possible signs are delay in tooth formation (Burton, 2006) and illnesses associated with old people like stiffness of joints or arthritis (Bates, 2010).

While they are physically weak and frail, a unique trait of the condition is that it does not affect one’s intelligence. This is the reason why Hayley Okines while suffering from progeria can normally go to school (Bates, 2010) and keep up with her academics. Hutchinson-Gilford Progeria Syndrome has been around for over a century now. However it was only in the last decade or so that the gene defect related to the condition was identified (Keiran, Gordon & Kleinman, 2007). It was determined that abnormal Lamin A (Meridith, Gordon, Clauss, Sachdev, Smith, Perry…Introne, 2008) causes the condition progeria.

More particularly, it is caused by just a tiny point mutation that leads to the production of abnormal Lamin A. This mutation appears during the development of the sperm even before conception. The most important result of finding the cause of progeria lies in the possibility of discovering a cure or treatment. At the same time knowing how this condition develops reassures parents of individuals with progeria that it is not hereditary. Over a span of several years progressive studies have been conducted, most of them headed by the National Human Genome Research Institute (NHGRI) (Spencer, 2010).

One of the earlier developments that came about is the creation of a genetic test to detect progeria. When as before diagnosis of the condition is made only after the first symptoms begin to appear Hutchinson-Gilford between 9 and 12 months of life, today the genetic test can already detect progeria at a younger age. However, it is unfortunate that cure or prevention of the Hutchinson-Gilford Progeria Syndrome is still far off in the future. Nevertheless, there are numerous advancements that have occurred in recent years.

The most important advancement in the search for cure of progeria is the discovery of the farnesyltransferase inhibitors (FTIs) (Spencer, 2010) as a potential therapy. Originally FTIs were being studied for the cure of cancer. It was however found out that FTIs can dramatically alter the state of abnormal nuclear structure common to individuals with progeria (Spencer, 2010). This is probably the most positive finding in the study of progeria so far. In fact NHGRI produced optimistic results from the tests they have so far conducted.

By 2008 they have began mapping out the procedure of actual human testing of FTIs on individuals with progeria. One of the encouraging results of the tests is Hayley Okines. While her parents are cautious about the improvements of their daughter (Bates, 2010), there is no doubt that FTIs are working. So far after two years of taking part in this pioneering medical trial (Bates, 2010) Hayley Okines’ skin is plumper, and she has also grown eyelashes and eyebrows (Bates, 2010). Hutchinson Gilford Progeria Syndrome is a rare condition that baffles many in the medical profession.

Its mystique lies in the possibility of understanding human aging process. However its challenge is real, not only for Hayley Okines who has the condition, but to the families and friends of individuals with progeria, and the medical profession. The discovery of its genetic cause is a huge leap towards finding a cure. While a possible treatment is at hand with the FTIs, total healing is yet to be achieved. The best way to care for individuals with progeria now is to provide care for the illnesses that come with their rapid aging process and help them improve their quality of life, no matter how short it may be.

Free Hutchinson-Gilford Essay Sample


  • Subject:

  • University/College: University of California

  • Type of paper: Thesis/Dissertation Chapter

  • Date: 24 September 2016

  • Words:

  • Pages:

Let us write you a custom essay sample on Hutchinson-Gilford

for only $16.38 $13.9/page

your testimonials