Progeria, otherwise known as Hutchinson-Gilford syndrome is an extremely rare, generic childhood disorder with reported incidence of about one in a million. Hutchinson has 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 term to reflect the syndrome's 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, have "plucked bird" appearance, many health problems and their lifespan is about thirteen 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 other conditions associated with the aging process rather the disease it self.
Effected children usually appear normal at birth. But within 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; [
] 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). Death usually occurs between the age of twelve and thirteen and it is due 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 unknown 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 might 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 discovered some skin changes, however dermatologists were unable to find cause of it. At eight months old, Ashley was referred to Genetics by a pediatrician who found Progeria to be one possibility. Ashley's mother learns later, that the pediatrician has seen a picture of similar looking baby in the Enquirer (!!!) and decided to research upon it. At eleven months old, Ashley's growth corresponded to much younger age; weight equaled a four months old and height to seven months old. Her eyes and ears are prominent yet she has very tiny facial features, especially the tiny, plucked nose and small jaw. The Genetics still are pondering upon a question weather Ashley has Progeria. In October 1992, the diagnoses of Progeria were made. By November Ashley is seen by a Progeria Specialist from England who agreed with the earlier diagnosis. However, the doctor had no suggestions for Ashley's mother. Her mother explains her experience during the diagnosis: "The world came crashing down when I first saw a picture of a 13-year-old with this disease. I didn't know what to say, do or think. I did know that I loved my daughter very much and that she meant the world to me. I also felt that somehow we would be okay. As she grew, she had such strength and wisdom, such love and spirit. She became my rock, my reason for living" (Lori and Ashley). Not knowing what to do, Ashley's mother first turned to party scene to help her deal with such a reality. After years of trying to cope without any professional help, she turned to bible and regained confidence in herself. She...
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