Progeria

Progeria meaning “old age” in greek, also known as the Hutchinson-Gilford syndrome, is an extremely rare condition that was initially repoted by Jonathan Hutchinson in 1886 and further described by Hastings Gilford in 1904. Progeria is known to be one of the rarest cases of diseases in which physical aspects of aging are greatly accelerated, and few affected children live past age 13. The chances of having this genetic condition is one in eight million for it occurs sporadically and is usually not inherited in families. Progeria is a childhood disorder caused by mutations in one of the major architectural proteins in the cell nucleus. Clinical manifestations are evident by the first or second year of life and include the physical characteristics usually associated with the elderly like hair loss, small face and jaw in relation to size of head, delayed tooth formation, wrinkled and age looking skin, hip dislocation, pinched nose, dwarfism, etc. Mentally, the patients are alert and attentive with normal intelligence and emotions at their true age but at the early age of nine, symptoms of scoliosis, high blood pressure, vision problems etc. are evident. There is no known cure to progeria and scientists are still on the verge of discovering about the wonders of these diseases.
The Progeria Research Foundation has led to a greater understanding about Progeria. They have found out that progeria is caused by a mutation in the gene called LMNA. The LMNA gene produces the Lamin A protein, which is the structural scaffolding that holds the nucleus of a cell together and without it cellular growth is not evident that allows normal bodily growth.
There are only 49 cases of Progeria that are recorded worldwide and in our country, Philippines, thre are two cases of Progeria. Those two children are documented in the show of Kara David, i-witness, last 2007. They episode was entitled “The old children” that shows the consequences of having this rare disease. Isolation is evident in their part because they cannot bond with normal kids at their age due to the fact that they cannot keep up with their kind of play and to imagine that you have only fifteen years to live, you cannot do as many outdoor activities like a normal child would do. Illiteracy is also known to most patients of Progeria because since they are isolated, they cannot be properly schooled. Envy among other people are evident for they do not appear to be normal and they are often wondering why they tend to be different if patients are not properly informed about their condition.
Parents are the ones most affected if their child are affected with this rare disease because they are the ones that loves their child most. Their will for their children is to live a normal life as possibe and some parents hide the truth among their children because they think that a child cannot understand what their true condition is. Parents feel that it is all their fault but the truth of the matter is that they too have a hard time accepting the fact that their children are closer to death than anyone and their years are numbered.
Most Patients die of heart attack in this matter and it truly is a rare disease. The future of genetics is evident in this disease for it is a matter of chances. One might not even know that they have Progeria and is denying it.