Marfan Syndrome Disorder Essay

Marfan Syndrome Disorder Essay

In the early centuries some people might have had Marfan syndrome. Most will ask “What is Marfan Syndrome?” or “Do I have Marfan syndrome?” But our scientists answer theses questions about Marfan syndrome. Marfan syndrome is a genetic disorder that affects the connective tissue. Some in what the connective tissue does or provides is substances that support tendons, ligaments, blood vessel walls, carilages, heart valves and many other structures.

In 1896 Antoine Marfan, a French doctor, discovered Marfan syndrome when he had a patient. As a boy who was fourteen years old (the patient), wanted to always become a basketball champ or at least a player but his coach didn’t like the way he looks so the fourteen year old boy went to see Dr. Marfan. The doctor first didn’t see but then finally he saw the problem. The young boy was more than 6 and a half feet tall. He was really skinny and had long arms, legs, and fingers.Marfan Syndrome Disorder Essay.  He told the young man to avoid team sports because he might have a blood vessel problem too. After investigating the young boy Then soon the doctor then named this disorder Marfan syndrome, after himself.

Over the years some scientists began experimenting about Marfan syndrome and how it affects the human body. Trying to look at all the people with it and how bad it has diagnosed everyone. They soon discovered that every child with a parent that has Marfan syndrome has a 50% chance of getting it passed on to them. Although Marfan syndrome affects one person in every five thousand all over the world it is really rare. A lot of people are diagnosed with Marfan syndrome but it isn’t that much noticeable to many people. You may look at a friend that is tall and skinny but that doesn’t mean that they have Marfan syndrome. They might of just grown up that way in how well they ate or how well they had activity in their young childhood.

If you want to find out if you have Marfan syndrome you need to go to four different doctors. You must check in with the geneticist first, then a cardiologist, an ophthalmologist, and finally an orthopedist. The geneticist looks at your disorders from genes of the family that you came from. Marfan Syndrome Disorder Essay. (To see if anyone else had the disorder). A cardiologist looks at your heart and tests it out to see if you have any problems.(making sure if you have a heart related disease)Then an ophthalmologist checks your eyes to see if you have any huge or an enlarged pupils. And finally you check into and orthopedist for your bones. During this procedure the doctor(s) will check your arms, legs, ribs, fingers, and back to catch any problems or aches.

Children with Marfan syndrome need to go to many doctors every single year for a long time. Because kids change and grow so quickly they got to be healthy and clean. Children with Marfan syndrome that have heart included problems need to take medicines called beta blockers, which help their heart stay on function and not leak through. Some kids even need surgery if they have a serious problem that is including Marfan syndrome. Kids with lazy eye will mostly need to wear glasses, and children with scoliosis need to wear a special back brace to help their back grow straight. As you know that many children need to get used to doing this at a very young age.

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Do people with Marfan syndrome have a long life? People with Marfan syndrome don’t have as much chances as normal people to live up to one hundred of years old. They can but they aren’t really able to move. They are not as healthy to live a long life. They can not live a long life because they can’t do many activities that exercise your body well enough and their hearts can not function well enough. Most people that have Marfan syndrome can not play most activities like soccer, football, hockey, tennis, and more energetic sports. They might play some games that more come and not as energetic. Most doctors might even say that they should not except to play team games. Marfan Syndrome Disorder Essay.

This genetic disorder (Marfan syndrome) affects mostly all people all over the world. Although you may see most boys have it, girls get affected by it more harmfully. They stop breathing or even need surgery. Females and males still do get infected by this rare disease but they still like the way their lives are.

Marfan syndrome is a genetic disorder caused by a mutation in the fibrillin gene. This

Misshapen in the fibrillin produced from the mutation weakens the tendons, ligaments, and other connective tissues in the human body.

Marfan syndrome is a dominant trait. Meaning that two out of four children have the disorder or disease. The baby is born with this disorder and it is unusual that you will get after you birth.

Many people have been doing research on the history of Marfan syndrome and they think that Abraham Lincoln might have been affected by Marfan syndrome. They think that Abraham Lincoln had Marfan syndrome because he was very tall, had long fingers that were elongated.

Today, Marfan syndrome has received attention in the media largely as a result of health problems and deaths among very tall athletes, such as most basketball players and volleyball players. In the United States, it has been estimated that 40,000 or more people have Marfan syndrome.

From back then to right now people have been diagnosed badly with Marfan syndrome. Some lost lives, some got serious surgeries, and some just got hurt. Marfan syndrome has got around for ages and will still continue to the future until somebody finds a cure. Some scientists are finding new ways to help the people who have Marfan syndrome but some are just normally finding a cure. Only if this terrible disease didn’t hurt the world championship players that have helped the world.

Marfan syndrome is a primarily an autosomal dominant disorder that affects 1 in 5000 people worldwide. Marfan syndrome is connective tissue disorder that results in a mutation in the Fibrillin 1 gene. The life expectancy of an individual with Marfan syndrome is close to normal with early detection, but Marfan syndrome still remains underestimated due in large part to characteristics similarities that are common in general public. This is compounded by the 25 percent of individuals with a new gene mutation on Fibrillin 1. It is imperative that nurses have a greater understanding of Marfan syndrome in order to facilitate a genetic referral for an early and accurate Marfan syndrome diagnosis. This should include the mechanism of how this…show more content…
(Giarelli, Bernhardt, & Pyeritz, 2010, Lashley, 2007 ,Canadas et al., 2010). The mutant gene is found on an autosome consequently, the syndrome can affect males and females equally. While, only one copy of the mutant gene is necessary for the disorder to be present (Lashley, 2007). Marfan Syndrome Disorder Essay. Fibrillin-1 is a large gene, made of complex glycoproteins that are responsible for the flexibility and strength of connective tissue (Giarelli, Bernhardt, & Pyeritz, 2010 & Gonzales, 2009). Fibrillin-1(FBN1) is most abundant in the cardiac, ocular and, skeletal system throughout the body. This glycoprotein can also be found in elastic and non- elastic tissues and is a chief component of microfibrils. Microfibrils maintain cellular bonds in the extracellular matrix and form the framework of elastic fibers in the aorta and ligaments of the musculoskeletal system and multiple organ systems (Keane & Pyeritz, 2008). These microfibrils consist of the structural parts that support the ligaments in the ocular lens and have a load-bearing role in elastic arteries (Chen & Buehler, 2010). As a result of the mutation in the FBN1 gene abnormalities occur in the microfibrils and can cause faulty connective tissue. The mutations were thought to create weakness of the aortic wall, lens dislocation, joint hyperlaxity and, widening. Marfan Syndrome Disorder Essay.