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

Progeria, differentwise know as Hutchinson-Gilford syndrome is an extremely rare, genetic childishness disorder with a reported incidence of near one in a million. Hutchinson reported the syndrome in 1886 when he found the startle patient with Progeria. In 1904 Gilford described a second case of Progeria, thus creating the consideration to reflect the syndromes senile features. There are only about a hundred reported cases since the disorder has been discovered over a century ago. Currently, there are about thirty to forty known cases worldwide of Progeria. Affected children age up to seven times faster, pass plucked bird seemance, many health problems and their flavourspan is about bakers dozen years. There is neither known cause nor cure for this disease. It is usually first diagnosed based only on appearance and treatment is given for another(prenominal) conditions associated with the aging process rather the disease it self. Effected children usually appear normal a t birth. But within the first year of life severe changes come into accordance. These include baldness and bodily hair loss, including eyebrows and eyelashes climb wrinkling accompanied by pigmented age spots unusually high flip voice undeveloped or underdeveloped sexual maturation ivory lesions, often resulting in fractures and hip dislocation (Livneh, Antonak and Maron, 1995, p.434). Death usually occurs amongst the age of twelve and thirteen and it is due to cardiovascular deterioration and more often than not includes arthrosclerosis, myocardial infraction and congestive heart failure (Livneh, Antonak and Maron, 1995, p.434). The cause of Progeria is cabalistic as of yet. Because of its very rare nature, no definite cause brook be pinpointed. However it is determined to be generic. In other words, it is panorama that it is due to single mutated gene and each case major power exist a single sporadic new mutation, which happens at conception. Therefore, as mentioned abov e, the diagnosing must be made solely on the appearance. During my Internet search on this subject, I have found a real fabrication of a thirteen-year-old girl, named Ashley. Her story captured my heart and I would like to use Ashley as an example in seconding to understand the disease, its progress and how it affects people involved. Ashley was natural on May 23, 1991 as what it seemed a normal and healthy botch up girl. In July 1991 doctors disco... ...f the disease and death to help cope and adapt properly. widely distributed intervention recommendations can focus on the childs needs, other family members and the conjure ups. 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, siblin g 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 exam 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 Foundation Inc. (1999) http//www.progeriaresearch.org/. Visited on May 2, 2002.