The chance of having a baby with Progeria is about 1 in 4 – 8 million (“Progeria 101/FAQ"). That means that there are approximately 200-250 people diagnosed with Progeria in the world at any point in time (Progeria 101/FAQ"). Sam G. Berns was among that small amount until he passed away early this year, on January 14th, from complications of Progeria at the age of seventeen. He was an intelligent junior who attended Foxboro High School in Foxboro, Massachusetts. During his life, he reached the level of Eagle Scout in Boy Scouts, was a percussion section leader in his high school band, spoke at two TED conferences, and was interviewed on national television (ABC and NPR). His hometown is a mere 10 miles from my own, causing me to learn …show more content…
The type of Progeria Sam had is called Hutchinson-Gilford Progeria Syndrome, “child Progeria” rather than Werner’s syndrome, also know as “adult Progeria”, that does not occur until late teens, resulting in longer lives into the 40’s-50’s (“Progeria 101/FAQ"). Progeria has a vast amount of symptoms that the majority of those suffering deal with as well as symptoms that are seen less often. Throughout early infancy, children with Progeria resemble normal infants’ physical appearance. Around age 1 or 2 they begin to display extreme growth delay causing them to be short, and have low weight. Their faces appear to be small compared to their head size; furthermore, their faces seem shrunken, wrinkled, and slender. Skulls will have visible veins along the forehead, nose-bridge, as well as the other areas across the head. Other symptoms include having a small jaw, delayed or failed tooth development, deformity of teeth with crowding, beaked nose, prominent eyes, brittle nails, dislocated hips, skeletal defects, and loss of hair, eyebrows, and eyelashes (Chandravanshi et al.). More damaging symptoms are atherosclerosis (hardening of the arteries), cardiovascular issues (strokes heart attacks), arthritis, and osteoporosis (“Progeria 101/FAQ"). The children who have Progeria are very similar in appearance with little effects from various ethnicities (“Progeria 101/FAQ"). Normally the complications of atherosclerosis lead to the deaths of the children around
The most cause for concern in children with progeria is ischemic stroke, and cardiovascular problems. The most common problem is that the progeria children may suffer from a cerebral infarction at four or five years of age. The blood vessels constrict causing a loss of oxygen and glucose to the brain and which result in speech problems, and further complicates their mobility. At two year of age the growth in length slows considerably, and their bodies are fragile. The average length of a child suffering from progeria is between 96cm and 120cm. The average life expectancy of a child with progeria is 13 years. There have been cases of a progeria child living till the age of 45 Years. The most common cause of death is myocardial infarction or congestive heart failure (Rastogi & Mohan, 2008). Some children despite the physical handicap presented by
Once called the “leprechaun’s disease”, Hutchinson-Gilford Progeria Syndrome was first described in 1886 by the English surgeon Jonathan Hutchinson and by Hastings Gilford in 1904. The main reason why it took so long to find the gene for Childhood Progeria is that it only affects about one baby in every four million to eight million in the world.
Some ways to detect Progeria are genetic tests of the patient’s blood and clinical exams. Furthermore, the major signs begin developing when the child is around eighteen to twenty-four months old and he will experience accelerated aging even though he was born looking normal. One major symptom is hair loss. Patients are born with hair texture and color, but around six months to two years, the hair begins to fall out. Then, from two to three years, they are usually bald, but might have some thin, light hair. Loss of eyelashes and eyebrows are also experienced. Along with hair loss, these children grow slowly resulting in a shrunken physique and minimal weight gain. For males, their approximate height and weight are 40 inches and 25 pounds; but females are about 32 inches and 20 pounds. In When Good Things Happen to Bad People, doctors have stated these kids will "grow to be very short," and "would never grow much beyond three feet."( Kusher 1-2) Moreover, there are distinctive physical traits in the face and body. "By the second year of life, there is also under development (hypoplasia) of the facial bones and the lower jaw." ("Hutchinson-Gilford Progeria") Also, "the face appears disproportionately small in comparison to the head, and bones of the front and the sides of the skull (cranium) are unusually prominent." ("Hutchinson-Gilford Progeria") Some other characteristics observed in the face are a thin
This disease can cause problems with one's vision, muscle control, balance, and other essential body functions. Up until the age twenty-eight,
As stated before FAS is the leading cause of mental retardation. There may be mild to severe growth retardation including decreased birthweight and head circumference in addition to continued growth retardation for height, weight and head circumference. Children with FAS fail to ever catch up in growth during the preschool years and have a tendency to remain thin even though there is adequate nutrition. These children often have anomalies and deformed facial features such as short palpebral fissures, flat midface, thin upper lip, indistinct philtrum, epicanthal folds, low nasal bridge, minor ear anomalies, micrognathia, strabismus, ptosis of the upper eyelid, narrow receding forehead, and a short upturned nose (Hess and Kenner 2). In broader terms the face of a FAS child includes a small head; a small maxilla which is the upper jaw; short, upturned nose; smooth philtrum which is a groove in the upper lip; smooth and thin upper lip; and small slightly narrow eyes with noticeable epicanthal folds (http://www.adam.com/ency/article/0009111.sym.htm). In the American Journal of Public Health and article called Tobacco and alcohol use during pregnancy and risk of oral clefts, described a study conducted to examine the relationship between alcohol consumption during the first trimester of pregnancy and oral clefts (Lorente, Cordier, Goujard and Ayme 1). First of all during the 6th through
Humans undergo several stages during their lifetime including growth, development, reproduction and senescence. Senescence is defined as the deteriorative biological changes that organisms experience as they age eventually leading to death. These changes include low metabolism, a weak immune system, memory loss, poor vision and loss of hearing. Senescence begins in humans during their post-reproductive years. However, gerontology research has shown that individuals who reproduce late have longer life spans compared to individuals who reproduce early. Nonetheless, it does not indicate that senescence is inevitable. All organisms experience senescence,
Distortion of the facial features can take place in a newborn with this disorder due to the thick plates of skin
There are treatments to make living with this disorder a little easier. Babies born with this need immediate and intensive care in the NICU. Babies born with this are less able to maintain a safe body temperature. They are more prone to fluid loss, dehydration, and life threatening infections. In their first week of life to have any chance of survival they may need: intravenous tubes to deliver fluids and nutrients. They also need monitoring of electrolytes and sodium, lubrication for their eyes if they’re forced open. With having this disorder they have a hard time keeping their body temperatures normal, which means they need help in doing so… They need to be in a high humidity incubator to even maintain a normal body temperature and prevent cracks in their skin. The Doctors can prescribe antibiotics so the infection does not spread any further. Doctor can also prescribe retinoids which is any type of cream to accelerate the shedding of the skins scales. It is an ongoing treatment of keeping the skin moisturized and avoid more scaling or cracking that could lead to more infection. How long do babies diagnosed with this disorder
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare, fatal genetic condition that is characterized by premature aging in children. Its name is derived from the Greek and means “prematurely old.” There are different forms of Progeria, but we will be looking at the classic form that was named after the doctors who first discovered it, Dr. Jonathon Hutchinson in 1886 and Dr. Hastings Gilford in 1897.
Lonafarnib, a type of farnesyltransferase inhibitor (FTI) originally developed to treat cancer, has proven effective for Progeria. Every child showing improvement in one or more of four ways: gaining additional weight, better hearing, improved bone structure and/or, most importantly, increased flexibility of blood vessels. Results of the study, which was funded and coordinated by The Progeria Research Foundation, were published September 24, 2012 in Proceedings of the National Academy of Sciences(no author, first treatment
The adult form of Schindler disease is also known as Schindler disease type II or Kanzaki disease.In this, symptoms might not appear until the third or second decade of life. A characteristic symptom of type II Schindler disease is involvement of tiny blood vessels called telangiectasia present in the skin that is responsible for small, reddish skin lesions, and an increase of its horny layer known stratum corneum; hyperkeratosis referred to as angiokeratomas. Small lymph vessels may undergo dilations which may lead to swelling or lymphedema mainly of the lower
This paper will discuss the relationship between the aging process and key diseases associated with aging. Examples of aging-associated diseases include cancer, diabetes, cardiovascular disease, and neurodegenerative diseases (López-Otín, Blasco, Partridge, Serrano, & Kroemer, 2013, p. 1194). Of these, we will discuss in-depth recent studies that have linked aging with Alzheimer’s disease, cardiovascular disease, and diabetes. These diseases affect a significant proportion of the population over the age of 65 and place a considerable burden on the American health care system. Therefore, a better understanding of how they are related to aging and each other can result in the adoption of innovative treatments and declined risk for older adults.
Wolf-Hirsch horn syndrome impacts many features such as facial lucks like wide eyes, body is smaller then is supposed to be. This syndrome is made when you are born. People that have this disorder usually cant eat some foods because the foods can cause pane, and some times it can be so bad that a person can even die.
Hutchinson- Gilford Progeria Syndrome is reported about 1 in 8 million newborns (Parker 16). Hutchinson-Gilford Progeria Syndrome equally affects both sexes and races of children and gives them an appearance of rapid aging (Nordqvist 1). The symptoms of this disease show around eighteen to twenty-four months of
Aging is described as a sequential, irreversible, progressive, and non-pathological process of maturation in an organism and that translates to a gradual decline in the ability to perform activities optimally. Aging is an individual process that can be a period of stress for individuals especially following their retirement (Hiller & Barrow, 2015). The current study sought to understand the process and experience of aging from the perspective of elderly individuals. In discussing matters of aging and retirement, many assume that women are always eager to retire, and adjust well, as compared to their male counterparts (Bauger & Bongaardt, 2016). Many people assume that since women are generally made as homemakers, they are willing and happy to retire while men, whose nature is to be the main source of family income, find it hard to be out of work (Moody & Sasser, 2014). Indeed, there exists very little literature that sheds some light on this area, particularly on the attitudes of each gender towards retirement and process of aging. Given the significance of retirement to this life stage, the study sought to understand the emotions and views of individuals regarding their retirement through the lenses of (1) Physical health and wellbeing, (2) Friends, Family, and Community, (3) Work and leisure, (4) Finances and lifestyles, and (5) Living