Hutchinson-Gilford Progeria Syndrome
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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 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, 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. Ashleys 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, Ashleys 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 Ashleys 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 didnt 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, Ashleys 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 found God to help explain her destiny and deal with her childs irreversible young death. Now, she turns into prayers when Ashley goes to hospital because of cardiovascular problems, pain associated with her fragile bone structure or any other problems connected with the syndrome. Ashley, on the other hand, is like any kid, loves animals, plays with other kids; wants candy all the time and does well in school. However, kids with Progeria do “tend to be shy and aware of their unusual appearance. They were friendly, lively, witty and mischievous in the company of acquaintances, and they exhibited normal emotions, becoming happy, angry, and sad in the appropriate situations” (DeBusk, 1972, p716). Ashley although is suffering from a devastating disease seems to cope pretty well; she is tuff on her pain, makes friends easily and because of organizations like “Make a Wish Foundation” or concerned individuals is able to enjoy her life fully by getting her wishes come true. She has gotten gifts; toys and animals from others and those are just small things that make her fragile life happier.
But all the kids with Progeria, unless a cure is found soon, will die. How does one plan for a death so unfair and painful? How one comes to acceptance and how one goes on with his/her life? Those and thousands of other questions cannot be answered completely. Death has always a tremendous impact but loss of a child, whose death runs
counter to our life expectancy is the most devastating experience anyone might face. “Research has also supported that death of a child ranks highest on various scales that measure life stress and impact of life events” (Livneh, Antonak and Maron, 1995, p.437).
According to Schneider, during the illness the impact on family is felt physically, emotionally, cognitively or spiritually. Emotional and spiritual reactions are the most explored areas of parental adaptation to childs illness and death. Emotional reactions include anxiety, depression, fear, guilt and anger. “Parental reactions often reflect enormous fear of losing
ones child and accompanying feelings of helplessness and powerlessness in protecting the child form the impending doom” (Livneh, Antonak and Maron, 1995, p.437). Existential or spiritual reactions include the search for meaning, making sense of world and dealing with ones pain (Lori, Ashleys mother is a perfect example of a parent whose reaction to her childs illness is spiritual, since she concentrates on God and explains her and her daughters destiny upon the Bible). These actions and beliefs usually are an attempt to make sense and come to deal with tragedy, pain, and disappointment.
Overprotection