Young children are usually concerned about getting the latest toy, plenty of play-time, and making friends. However, 1 in every 8 million children experience rapid aging and are typically concerned with issues such as hair loss, thin skin, stiff joints, and heart disease (Gordon). This rare fatal genetic disease is known as Progeria. In the last couple of decades, professionals have brought increased awareness and knowledge to Progeria and its symptoms, genetic cause, history, research, treatment, and support resources available to affected children and their families.
Progeria comes from a Greek word that means prematurely old (Ludman). After finding more cases of Progeria, researchers have discovered that there are three types of Progeria: Werner’s Syndrome, Wiedemann-Rautenstrauch Syndrome, and Hutchinson - Gilford Syndrome. Werner’s Syndrome is the adult type of Progeria, where a person starts to see symptoms in their teen years, and typically lives until their 40’s or 50’s (Gordon). Another type of Progeria is Wiedeman-Rautenstrauch Syndrome, which occurs in infants. In this case symptoms are noticed immediately after birth and the child normally only lives to their teen years (Staff). Lastly, Hutchinson-Gilford Syndrome is a type of Progeria in children where symptoms appear around the age of two, and the child’s shortened life ends in the teen years (Gordon). While there are different types of Progeria, this paper will focus specifically on Hutchinson-Gilford Syndrome.
Children with Hutchinson-Gilford are born looking normal and healthy, but during their first year of life certain symptoms start to appear (Gordon). A child’s height and weight begin to fall below the average for their age, and their joints begin to stiffen (...
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... April 2010 for answering any questions on Progeria (Gordon). Other organizations and foundations for Progeria are the Genetic and Rare Diseases [GARD] Information Center in Maryland and Madisons Foundation in California (NORD).
Before starting this research paper my only awareness of Progeria was having seen pictures of children with this disease and briefly discussing it in my Biology class. After studying Progeria in depth, I not only know more, but also have a greater admiration of the strength and optimism in the families and children with Progeria. Additionally, I have realized how much I have taken for granted such as health, a long life, and ability to participate in activities easily. After learning about Progeria and Sam’s life, I realize how important it is for us to focus on how much we have instead of what we don’t have and live our life to the fullest.
Dan and Betsy go through their emotions on hearing about Samuel condition of cerebral palsy. The roll coaster of emotion they felt. As a parent I could relate to their emotion of having a child with disabilities. I would love my child regards of condition but the emotion I would feel would be fear. Dan and Betsy both went through fear; asking themselves what about his education, and interaction with others. I would have those same question; as
...sorder itself is genetic counseling. In genetic counseling, patients meet with a genetic counselor at a hospital or some sort of other healthcare facility. (Calendar 2013)
Nordqvist, Christian. "What Is Autism?" Medical News Today. MediLexicon International, 11 June 2015. Web. 5 Jan. 2016. .
Hutchinson-Gilford Progeria Syndrome other wise known as “Progeria”, or “HGPS”, is a very rare, and fatal genetic disorder characterized by an appearance of accelerated aging in young children. The rate of aging is accelerated up to seven times that of a normal life span in first 13 years of life. Progeria comes from the Greek word (πρό), “pro” meaning premature and (γῆρας), “gerias” meaning old age. While there are different forms of Progeria, the most sever form of progeria is formally known as Hutchinson-Gilford Progeria Syndrome, which was named after the doctors in England: in 1886 by Dr. Jonathan Hutchinson who described the syndrome, and by Dr. Hastings Gilford who independently discovered it in 1904 (Jameson).
Nordqvist, Christian. “What Is Asperger's Syndrome?” Medical News Today. MediLexicon International, 9 Mar. 2012. Web. 29 Nov. 2013. .
There are plenty of symptoms identified with progeria. Children, at birth, appear normal with early integumentary symptoms, comparable to scleroderma. Within the first couple of years, the child’s growth rate demonstrates a noticable decrease. This results in the shortness of stature and extremely low weight. Other symptoms and effects of progeria are delayed or absent formation of teeth, observable veins, baldness, aged-looking and dried skin, and stiffness of joints.
The main characteristics of this syndrome is low muscle tone, short stature, incomplete sexual development, cognitive disabilities, behavioral problems and excessive hunger that can lead to life threatening obesity. In-utero, PWS results in reduced fetal movement, frequent abnormal fetal position and occasional excessive amniotic fluid. At birth, PWS often results in lethargy, hypotonia, feeding difficulties, difficulty in establishing respiration and hypogonadism. Young children demonstrate late acquisition of major motor milestones for example, sitting at 12 months, walking at 24 months. Children aged 1-6 years present with symptoms of hyperphagia with progressive development of obesity. Short stature is generally present followed by lack of pubertal growth spurt and
Sam Berns was a seventeen year old junior who was born with the illness progeria, a genetic
Progeria, otherwise known as Hutchinson-Gilford syndrome is an extremely rare, genetic childhood disorder with a reported incidence of about one 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 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.
Asperger’s syndrome is classified within a group of disorders called Autism Spectrum Disorder (ASDs). The ASD’s consists of Autistic Disorder (“classic” autism), Asperger’s Syndrome, and Pervasive Developmental Disorder-Not Otherwise Specified (PPD-NOS).Those diagnosed with Asperger’s syndrome may display unusual behaviors, interests, and suffer from social challenges. Since Asperger’s is characterized as a high-functioning form of autism, those who have been diagnosed typically do not have delays with language or deficits with their intellectual capabilities.
There are several symptoms that can be used to detect the condition. It leads to the growth of the child in muscles, height and organs and hence the child being larger or bigger than his or her age. Other symptoms include; irregular periods, release of breast milk, weakness, increased sweating, thickening of the facial features, large hands and feet with thick fingers and toes, headache, delayed puberty, frontal bossing and a prominent jaw and double vision or difficulty with side vision. There are also some signs and test that can validate gigantism. The tests are; increased Insulin Growth Factor-I (IGF-1) levels, CT or MRI scan of the head showing pituitary tumor, high prolactin levels and failure to suppress serum Growth Hormone (GH) levels after an oral glucose challenge (maximum 75g). Damage to the pituitary generally leads to low levels of other hormones among the...
Ozonoff, S., Dawson, G., & McPartland, J. (2002). A parent’s guide to asperger syndrome and
Fetal and Postnatal Growth Introduction From conception through fetal development, childhood, and adolescence, there are many factors that affect the growth of a child. Throughout his life, child undergoes a remarkable transformation before reaching adulthood; this transformation involves not only physical growth and maturation but also a dazzling array of complex developmental events impacting on each organ system and on the child as a whole. Developmental phenomena can be important determinants of the young patient’s response to disease and to its management. Furthermore, normal features of “growing up” are, at times, erroneously interpreted as manifestations of disease, triggering unnecessary concerns. In turn, disease states may alter the pace and nature of maturation and growth during childhood. Fetal Growth Factors Fetal growth and development are controlled by genetic and environmental factors. There is overwhelming evidence that the intrauterine environment determines to a great extent the diversity in offspring after a normal pregnancy. This has led to the theory that the fetal organs are ‘programmed’ during pregnancy and that disturbances at a critical or sensitive period during development could lead to disorders after birth, and even to diseases declaring itself not sooner than at the adult age (Adzick, 1984). Especially organs such as the brain and the kidneys, where neurogenesis and nephrogenesis respectively take only place during fetal life, are thought to be vulnerable to disturbances in their development. Since after birth no new neurons and glomeruli develop, any disturbing influence on the brain and kidneys during development could have lifelong consequences. Important factors that negatively influence fetal d...
Ozonoff, S., Dawson, G., & McPartland, J. (2002). A parent’s guide to Asperger syndrome and
It is caused due to the deficiency of food-energy and proteins which is marked by growth retardation. Such children look superficially normal as the weight and height reduce in the same proportion.