Research Paper On Progeria

Progeria is a condition which causes the body to experience the process of aging at a much faster rate than usual. The very name, with Greek roots, means “prematurely old”. The most common form of Progeria is Hutchinson-Gilford Progeria, though several other variations, called progeroid diseases, also occur (4). The disease is so rare that as of September 2016, only 139 children were known to be living with Progeria (1). When a baby is born with Progeria, it is unlikely that anyone would suspect their disorder. At first, they seem to exhibit normal, healthy behaviors (1). However, within the first few years, it is clear that these children begin to experience a failure to thrive. This means they begin to fall short of weight benchmarks for
Abnormalities on the LMNA gene can lead to diseases such as muscular dystrophy and Charcot-Marie-Tooth type 2 disease as well (5). In 2003, the Progeria Research Foundation discovered that a mutation on a specific segment of the gene, specifically exon 11, disrupts the production of lamin A proteins. This type of protein serves to provide support for the nuclear envelope (6). The mutation causes the production of a specific protein called progerin. The buildup of these proteins in blood vessels and skin threatens the health of patients. Progeria is not passed down within families. However, having one child with progeria increases the risk of the next child contracting the disease from one in four million to one in fifty. Prenatal testing is also available to scan for progeria (2). Progeria’s effect on the family members of the patient are largely social. Often, the physical effects of the disease draw stares in public areas, along with rude, and often ignorant, comments and questions (2). In addition, treatment can be very expensive, as Progeria causes many health issues that require medication and regular doctor visits
Though the condition does not affect cognitive functioning, it can make typical school activities, such as sitting for most of the day, writing, and coloring can cause soreness and pain. Aditionally, headaches are common due to tight muscles and pressure from dilated blood vessels. Often, children with Progeria require eyeglasses, though researchers are not certain why. Progeria sufferers may also experience keratitis, which is a clouding or blocking of vision due to a lack of moisture in the eye. Typically, a low level of hearing loss occurs due to the unusual ear shape characteristic of progeria patients. As for oral health, Socially, progeria can hinder a child’s ability to make friends, because the physical effects of the disease are very obvious and make the child stand out (2). As children age, Progeeria causes stress on their cardiovascular system. They are at a high risk for heart disease. Aspirin treatments can be used to control these risks. Strokes and Transient Ischemic Attacks are also common causes of death.
The prognosis for children diagnosed with progeria is fairly grim. Most children with the disease die by age fourteen, often as a result of heart disease or strokes due to arteriosclerosis (3). However, specific symptoms can be controlled to allow for a better quality of life for patients. Additionally, recent research has given new hope to the family of progeria