Progeria - Hutchinson-Gilford Syndrome Essay -- genetic childhood dis

Progeria, otherwise known as Hutchinson-Gilford syndrome is an extremely rare, genetic nipperhood disorder with a reported incidence of about hotshot in a million. Hutchinson reported the syndrome in 1886 when he found the first patient with Progeria. In 1904 Gilford described a second case of Progeria, thus creating the stipulation to reflect the syndromes senile features. There are only about a hundred reported cases since the disorder has been discovered over a nose candy ago. Currently, there are about thirty to forty known cases worldwide of Progeria. Affected children age up to seven times faster, have plucked annulus appearance, many health problems and their lifespan is about thirteen years. There is neither known cause nor cure for this disease. It is normally first diagnosed based only on appearance and treatment is given for other conditions associated with the aging process rather the disease it self. Effected children usually appear normal at birth. But at spir it the first year of life severe changes come into accordance. These include baldness and bodily hair loss, including eyebrows and eyelashes skin wrinkling accompanied by pigmented age spots unmistakably high pitched voice undeveloped or underdeveloped sexual maturation bone lesions, often resulting in fractures and hip dislocation (Livneh, Antonak and Maron, 1995, p.434). Death usually occurs between the age of twelve and thirteen and it is collectable to cardiovascular deterioration and generally includes arthrosclerosis, myocardial infraction and congestive heart failure (Livneh, Antonak and Maron, 1995, p.434). The cause of Progeria is vague as of yet. Because of its very rare nature, no definite cause can be pinpointed. However it is determined to be generic. In other words, it is thought that it is due to single mutated gene and each case energy represent a single sporadic new mutation, which happens at conception. Therefore, as mentioned above, the diagnosis must be made solely on the appearance. During my Internet research on this subject, I have found a real story of a thirteen-year-old girl, named Ashley. Her story captured my heart and I would like to use Ashley as an example in helping to understand the disease, its progress and how it affects people involved. Ashley was born on May 23, 1991 as what it seemed a normal and healthy baby girl. In July 1991 doctors disco... ...f the disease and death to help cope and adapt properly. General intervention recommendations can focus on the childs needs, other family members and the parents. Other intervention can address social issues such as spirituality, emotionality, coping modes and adaptation techniques. It is very hard to say to a parent of a dying child that any of the above might help a broken heart, however, professional help, understanding and loving environment and family might ease the hardships of loosing ones child, sibling or a friend. BibliographyDeBusk, F.L. (1972). The Hutchinson-Gi lford Progeria Syndrome. Jurnal of Pediatrics, 80, 697-724.Livneh, Hanoch Antonak, Richard F. Maron, Sheldon. (1995). Progeria Medical aspects, psycholosocial perspectives, and intervention guidelines. Death Studies, Vol .19(5), Sep-Oct 1995. pp. 433-452.Lori and Ashleys Website. http//www.geocities.com/lori_and_ashley/. Visited on April 23, 2003.Mac Michael, R.A. (1996-2003) Hutchinson-Gilford Progeria Syndrome Network. http//www.hgps.net/about/. Visited on April 23, 2003.Progeria look into Foundation Inc. (1999) http//www.progeriaresearch.org/. Visited on May 2, 2002.