Hutchinson-Gilford Progenia Syndrome (HGPS) Essay

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).

Progeria is one of the least known genetic disorders. There are two types of Progeria, the only difference being the age group that it affects. The Hutchinson-Gilford Progeria Syndrome is commonly called Childhood Progeria. The second type of Progeria is Werner’s Syndrome, which is the adult form of Progeria. What basically happens in this disorder is that age is accelerated seven times faster than that of a normal person. For example, for Hutchinson-Gilford Progeria Syndrome, a child could look like he is fifty when he is actually five years old. A twenty year old with Werner’s Syndrome could look similar to a sixty or seventy year old person. There is, even now, not much information known about this genetic disorder because

     Progeria is an autosomal recessive disease, which means it is not carried on a sex chromosome. Hutchison-Gilford Progeria is caused by a mutation in Lamin A. Lamin A is a fibrous protein involved in the structure of the nuclear membrane. When there is a mutation in Lamin A it is likely the nucleus loses its normal shape and therefore its function is compromised. As of now, it is known that this is the cause of Progeria itself; however, neither doctors nor scientist can determine what this mutation has to do with the aging-like deformities of Progeria (Kugler).

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.

The impacts will likely depend on the type of condition and severity, as well as the physical, emotional, and financial wherewithal of the family and the resources that are available. For parents, having a disabled child may increase stress, take a toll on mental and physical health, make it difficult to find appropriate and affordable child care, and affect decisions about work, education/training, having additional children, and relying on public support. It may be associated with guilt, blame, or reduced self-esteem. It may divert attention from other aspects of family functioning.

Children with asthma can experience wheezing, shortness of breath, a tight chest and coughing and carry an inhaler with them to help control their breathing. This may mean the affected child is limited to certain physical activity therefore causing a possible delay to their physical development. Cystic fibrosis is another condition that may affect a child’s physical development; people with the condition can become very unwell if they are over-active. Due to a build-up of mucus in the lungs and digestive system, children can experience a persistent cough and recurring infections and have to undergo remedies like physiotherapy to reduce this risk. Lots of movement can result in fatigue as a result. Depending on how the child’s mother’s health was during pregnancy also affects the development rate of her child. For example if the mother drank alcohol, smoked and took drugs, her child is more likely to be born premature with a low birth weight which can result in a slower development rate. The average child’s development can also be affected by lack of sleep or an unbalanced diet. If a child isn’t eating the correct food types or getting enough sleep, they are unlikely to have the energy to learn new information or practice their physical skills. Diet and sleep are very important factors to child

There are many ways to help children with progeria and their families. Whether you choose to donate time or money, everything you do is appreciated. Money donated can go to organizations such as the Progeria Research Foundation. This money will go to help fund research and help families manage with medical bills. Volunteering your time and meeting children with progeria is something more people are able to and allows you to meet and connect with these children.

They will be delayed in their physical development due to difficulties with the lower brain which is responsible for balance and co-ordination. They may also have a difference in muscle tone and find it difficult to gauge how much to grip an object. This delay in physical development will have an impact on the child’s social and emotional development also as they may not get as much chance to play and interact with other children in their peer group.

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

Different disabilities may affect development in different ways. However, with support from teachers and parents, these affects can be minimalised. A learning disability such as Dyslexia (a common type of learning difficulty that can cause problems with reading, writing and spelling) could lead to a child becoming frustrated which could further lead to behavioural issues. Moreover, without assistance, Dyslexia will allow for the child to become unmotivated and prove to be a hindrance to them as they look to strive in later life. Physical disabilities such as Cerebral Palsy (a neurological condition that effects movement and coordination) will affect development as children will have difficulties communicating, eating and drinking and with their

A genetic disorder is an a disease or condition caused by one or more abnormalities in the genome. Genetic disorders are an inherited medical condition, which are caused by a DNA abnormality. “Noonan Syndrome is a genetic disorder, it prevents normal development in different parts of the body (Mayo, 2016).” There are several different abnormalities caused by Noonan Syndrome that can affect people. Noonan Syndrome is a genetic disorder which a means it can be passed through parents to their children.

Spina Bifida is a birth defect where the spinal cord does not develop correctly, or is not closed all the way while still in the mother. Back many years ago people who were diagnosed with spina bifida were not expected to live very long. Their lifespan was only about 6-12 months and then they would die. From having the spinal cord not developed it can cause massive defects on the child. It can be as simple as just a limp in the walk, but it can get as bad as not being able to use their legs at all. These children still have the right to work out and become stronger individuals. The children may also want to be involved in a sport. Many people may think this is impossible, but with slight modifications the child can participate

Disability: Any child that has a disability such as spina bifida or cerebral palsy could have a huge physical effect on how they will develop. Spina bifida takes place when a child’s spinal cord did not develop correctly while the mum was pregnant. As a result of this a child legs could be partially or fully paralysed and that they could have a curvature on their spine. They could have difficulties controlling themselves when going to the toilet and have deformities in their bones and joints. A child with a physical disability could be at a disadvantage in so many way for E.G. if it were that had restricted movement, then they could find it hard to join in with things just like sports, putting Lego together, staking up things, putting toys

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

A genetic disorder, such as DiGeorge syndrome, is an illness caused by one or more abnormalities, which can be passed down through parents, DNA, or mutations. DiGeorge syndrome (DGS) is a rare type of a genetic disorder which is caused by the deletion of chromosome 22. DiGeorge syndrome affects many parts of the body and has a prevalence of 1: 4000