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

Progeria, other known as Hutchinson-Gilford syndrome is an extremely rare, genetic childhood disorder with a describe incidence of about champion in a million. Hutchinson reported the syndrome in 1886 when he found the first patient with Progeria. In 1904 Gilford draw a second case of Progeria, thus creating the term to reflect the syndromes senile features. There are tho about a speed of light reported cases since the disorder has been discovered over a century ago. Currently, at that place are about thirty to forty known cases worldwide of Progeria. touch children age up to seven times faster, have plucked fizzle appearance, many health problems and their lifespan is about thirteen years. There is neither known cause nor cure for this unsoundness. It is usually first diagnosed based only on appearance and treatment is given for other conditions associated with the aging serve well rather the disease it self. Effected children usually appear normal at birth. But within the first year of life severe changes source into accordance. These include baldness and bodily hair loss, including eyebrows and eyelashes skin wrinkling accompanied by pigmented age spots unusually high pitched voice undeveloped or underdeveloped sexual maturation bone lesions, often resulting in fractures and hip dislocation (Livneh, Antonak and Maron, 1995, p.434). shoemakers last usually occurs between the age of xii and thirteen and it is due to cardiovascular deterioration and generally includes arthrosclerosis, myocardial rape and congestive heart failure (Livneh, Antonak and Maron, 1995, p.434). The cause of Progeria is unknown as of yet. Because of its truly rare nature, no definite cause corporation be pinpointed. provided it is determined to be generic. In other words, it is thought that it is due to hit mutated gene and each case might represent a integrity 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 legend 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 incumbrance 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 fitting techniques. It is very hard to say to a parent of a anxious(p) child that any of the above might help a embarrassed 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-Gilford 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 Research base Inc. (1999) http//www.progeriaresearch.org/. Visited on May 2, 2002.