An Overview of Progeria

Imagine being born with one of the world’s rarest disease, being limited by what you can and can not do for the rest of your life. Your skin pulls itself over already existing flesh, piling up on the surface of your body, making you appear older than you really are. At the age of three you lose your hair, and every doctor in the area strives to save your life.The world would see you as a monster, but your family would see you as a beautiful flower freshly bloomed in the spring. If you were given these restrictions would you accept them, and live the life given to you? Or would you be mad at God for making you different?

One out of four to eight million newborns are diagnosed with Progeria, with an estimate of 200-250 children suffering from Progeria at the same time in the world. Effecting both male and female, this rare disease has claimed victims in 40 different countries since 1999 (“Progeria 101/FAQ”). The name of this disease was given by the Greeks, meaning “prematurely old.” In 1886 a Doctor in England, Hutchinson- Gilford, gave scientists their first look at the basic form of Progeria, and in 1897 Hastings Gilford discovered the second (“The Science Behind Progeria.”)

Hutchinson- Gilford Syndrome, also known as Progeria, is a birth defect that causes young children and newborns to obtain physical signs and symptoms of premature aging. In other words newborns and children under the age of three go through dramatic, physical signs of old age (“Learning About Progeria”). Children born with Gilford Syndrome appear normal as newborns; however, at the age of one their growth rate decreases in capacity, causing them to have large amounts of weight loss (“Learning About Progeria”), Furthermore, the child suffering from this rare disease won't be able to grow any bigger than a normal five year old, and will have the appearance of a 60 year old (“Wisedude.com Progeria Disease Summary”), As the child gets older the symptoms that a normal 70 year old would have will start to surface. The skin will start to appear wrinkled with age, the joints stiffen, occasional hip dislocations, generalized atherosclerosis, cardiovascular disease, and stroke will all take place between ages two and seven (“Progeria 101/FAQ”), Before a child is ten, they will have already developed heart disease (“ Progeria Disease Summary”) and most children die before age 13 of severe heart attack or stroke.

There are three different types of progeria; the main ones heard about are the Hutchinson Syndrome and the Werners Syndrome. Hutchinson is mainly found in newborns, giving them the appearance of an older person, when they are young. Werners attacks young adults; the victim may appear 30 years older than their real age; however, greying and balding of the hair still occurs, along with loss of hearing (“Progeria Disease Summary”). A person Diagnosed with Werner’s Syndrome becomes at high risk of heart disease and are expected to only live up to their 40’s and 50’s (“Progeria 101/FAQ.”) The third form is more of a branch off of Progeria, dealing with the body’s growth patterns; an example would be a Midget or a form of dwarfism. Although their growth patterns are affected their intelligence is normal.

Progeria isn’t exactly something you would get from your mother’s genes or your father’s. What causes Progeria is a simple mutation of the nucleus that holds your cells together, similar to how cancer attacks the body. These mutations of a fetus’s genes are called a LMNA, this gene gives the body the Lamin A protein, Also seen as the structural scaffolding that holds the nucleus of a cell together. When a defective Lamin A is created the nucleus becomes unstable, resulting in premature aging of the body. When a person is conceived his/her body create’s progeria, but some infant’s bodies create higher amounts of progeria in their systems, before even being born. Over time, whether that’s in the uterus or not, a infant or young child’s progeria will keep building up until it’s able to make drastic changes to his/her life (“The Research Behind Progeria”).

This disease usually can not be passed down through families. Even though the disease is gene related, it is also “rare,” meaning that its presence is the occurrence of chance. Cases that don't involve HGPS (Hutchinson- Gilford Progeria Syndrome) are considered sporadic autosomal dominant mutations, which is when there is a change in one of the parents genes; only one copy of the gene was changed, giving the carrier the gene of the syndrome, but not the actual disease. For example, parents that had a child in the past with Progeria increase their chances two to three percent, from Mosaicism, Scientifically known as a genetic mutation for progeria in the parental cells without giving the parent Progeria (The Science Behind Progeria”).

Some children undergo a procedure called Coronary Artery Bypass Surgery, which is used to reduce the risks of death and severe cardiovascular complications (“Learning About Progeria”). Fortunately doctors have finally found a way to look at the specific genetic change or mutations beforehand to the progeria gene that leads to HGPS. Dr Francis Collins says, “The discovery not only gives hope to children and families affected by Progeria, but also may shed light on the phenomenon of ageing and cardiovascular disease.” A group of leading scientists were able to achieve this in April of 2003, to be reported in the scientific Journal “Nature”. There currently are no official treatments or cures for this condition, but the doctors and many highly trained Scientists are working hard to find answers, and get the best results to maybe one day eliminate Progeria for good (“Learning About Progeria”).