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.
The childhood development of the individual followed the normal development patterns that are expected. In the childhood stage the individual development changed rapidly and their ability to be active and learn new skills improves on a daily basis. During childhood a child will grow steadier compared to an infant. A child’s body and organs size grows at a steady pace. By the age of 6 a child’s head will be 90% of a full adult size even though the rest of a child’s body has a lot more to grow and to develop. Until a child reaches late childhood, and entering adolescence, an individual’s reproductive organs are still not fully developed. Infants and children can suffer from delayed development. This could cause potential effects
Hutchinson-Gilford Progeria syndrome, also known as HGPS, or Progeria, is a very rare genetic disease caused by a mutation in the cell. In 1886, Jonathan Hutchinson first reported case of a 3 ½ year old boy who had the appearance of an old man. In 1897 Hastings Gilford reported a second case with similar features. However, this mystery disease didn’t have a name until 1904, when it was named after the two men. People who have HGPS usually star showing symptoms by the age of 2, and only live to be a teen-mid-20s.
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
How is it possible for a child to be born looking healthy to then rapidly age and die at an early age? Progeria, a genetic disease, is the answer. This rare disease causes premature aging and is fatal. By looking at the symptoms, the genetic cause, the research for a cure, and what you can do it, is possible to understand progeria.
Although first case of Down syndrome was reported in early 1866 by John Langdon Down but
Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare genetic disorder where symptoms resembling aspects of aging are displayed at a very early age (Progeria 101). A genetic disease is an illness caused by one or more abnormalities in the genome, especially a condition that is congenital (present from birth). Genetic diseases are rare and may or may not be heritable. There are thousands of extremely rare genetic diseases, one being Progeria. Progeria affects its victims and their families more than physically; it takes a toll on the mental and emotional state of mind.
They went to Washington to get money and help from Congress. While there, they got lucky and met Dr. Francis S. Collins and his wife Diane Baker. They agreed to help Sam and his family. They started at Chromosome 1 for answers. Dr. Brown already treated twin boys with troublesome chromosomes. The chromosomes split, turned over, and reattached themselves. This made them find flaws in skin cells. They narrowed it down to a specific spot on the chromosome. Next, they went online to find what genes were in that spot. They realized it was lamin A. This protein can sometimes lead to rare conditions and other problems. The researchers discussed the results together and tested patients. They came to the conclusion that the lamin A was the problem and named the protein progerin. They looked through reports and realized the protein was found in one of Collins’s own patients, Meg Casey. Collins realized she did not have progeria after all. She had mandibuloacral dysplasia
Sotos Syndrome, also known as Cerebral Gigantism, is a rare genetic disorder that can be identified by excessive growth in early childhood and acromegalic facial features. This condition comes along with various health side effects that can cause life to be profoundly hard for one who has it. After watching TLC’s show Tallest Teens, in which they featured 7 feet 8 inches Broc Brown, a now 20 year old man with Sotos syndrome, I became interested in learning about this syndrome. After consequently seeing the show and watching how many health problems and hardships Brown faced daily, I became extremely interested in the syndrome and curious as to if there is any medical research being done about it.
In, Hutchinson-Gilford Progeria syndrome: Substance from broccoli can moderate defects, the author discusses an interesting new discovery made by scientists. Apparently a substance found in broccoli has been shown to help patients diagnosed with HGPS, or Hutchinson-Gilford Progeria syndrome reactivate protein breakdown, which, in reaction, reduces disease related-defects caused by HGPS. Patients with HGPS have a protein known as progerin, which is not functional but is synthesized inside the body. This causes the cells to age prematurely. This, in turn, causes patients to suffer diseases common with the elderly, like atherosclerosis, heart attacks, and strokes. While researching this disease, scientists found that even healthy cells carry progerin,
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
Hutchinson - Gilford syndrome, or Progeria, is an extremely rare genetic disorder when children age at a tremendous pace. Although children born with Porgeria tend to look healthy, they begin to display many characteristics of fast-tracked aging around 18-24 months. These children develop growth failure, a loss of body fat and hair, aged-looking skins, stiffness of joints, cardiovascular disease and strokes. Children with Progeria die of atherosclerosis (heart disease) at an average age of thirteen years (with a range of about 8 – 21 years). Progeria is extremely uncommon; only about one out of eight million people have it. Ninety percent of children with Progeria have a mutation on the gene
Progeria, or Hutchinson-Gilford progeria syndrome, was founded by Jonathan Hutchinson and Hastings Guilford in England in 1886. Progeria is a rare genetic disorder that is found in children who show a rapid growth in age (Sarkar & Shinton, 2001). At first, the child may seem normal at birth, but in the beginning of the first two years the child will start to show a rapid increase of the symptoms of progeria. The main cause for progeria is heart stroke or problems. A child with progeria can live up to 13 years; however some die younger and others die after 20 years-old or longer. Progeria has many symptoms that are shown in a child’s first year of life such as hair loss; slow growth in height and weight; bone changes; and thinning, spotty, wrinkled spots. Progeria shares some similarities and differences between the normal process of aging (Mayo Clinic, 2014). In progeria, we tend to see wrinkles develop
Due to a combination of factors such as better access to contraceptives, the age at which a fathers first child is conceived has followed an upward trend in recent years. Lots of research has been done into the effect of maternal age on offspring health, with the public’s general knowledge of the link between Trisomy 21 and maternal age testimony to this, however the risks that increased paternal age imply are less well documented and well known. Increasing paternal age has in fact been linked to several birth defects, of which the focus of this essay will be on genetic mutations leading to a combination of physical and neuro-cranial diseases.
During this talk held in Washington D.C on October 2013, Sam Berns a 17 year old who suffers from a strange disease called “Progeria,” explains how this condition has only allowed him to live a happier life. According to the speaker this is an extremely rare disease that affects approximately 350 kids worldwide. It is characterized for giving children a premature aging aspect and the most common symptoms are: growth failure, loss of hair and body fat, heart disease and aged looking skin.