WHAT IS MARFAN SYNDROME?

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Shannon Clark
6 years ago
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1 THIS IS MY SON LIAM, HE DIED 4 YEARS AGO, AT THE AGE OF 27, HIS DEATH, A RUPTURE OF HIS MAIN HEART VALVE HAS BEEN ATTRIBUTED TO MARFANS SYNDROME. MY FATHER ALSO DIED AT THE AGE OF 27, WHEN I WAS ONLY 3 ALSO OF A RUPTURE OF HIS MAIN HEART VALVE, I HAVE ALSO BEEN DIAGNOSED WITH HAVING MARFANS SYNDROME, AND IM HAVING TO DEAL WITH MANY OF THE SYMPTONS ASSOCIATED WITH THE CONDITION. WHAT IS MARFAN SYNDROME? Marfan syndrome is a genetic disorder that affects the body s connective tissue. Connective tissue holds all the body s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly. Connective tissue is made up of proteins. The protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan syndrome and some related disorders. Because connective tissue is found throughout the body, Marfan syndrome can affect many different parts of the body, as well. Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes. Some Marfan features for example, aortic enlargement (expansion of the main blood vessel that carries blood away from the heart to the rest of the body) can be life-threatening. The lungs, skin and nervous system may also be affected. Marfan syndrome does not affect intelligence.

2 Who has Marfan syndrome? About 1 in 5,000 people have Marfan syndrome, including men and women of all races and ethnic groups. About 3 out of 4 people with Marfan syndrome inherit it, meaning they get the genetic mutation from a parent who has it. But some people with Marfan syndrome are the first in their family to have it; when this happens it is called a spontaneous mutation. There is a 50 percent chance that a person with Marfan syndrome will pass along the genetic mutation each time they have a child. Knowing the signs of Marfan syndrome can save lives. People with Marfan syndrome are born with it, but features of the disorder are not always present right away. Some people have a lot of Marfan features at birth or as young children including serious conditions like aortic enlargement. Others have fewer features when they are young and don t develop aortic enlargement or other signs of Marfan syndrome until they are adults. Some features of Marfan syndrome, like those affecting the heart and blood vessels, bones or joints, can get worse over time. This makes it very important for people with Marfan syndrome and related disorders to receive accurate, early diagnosis and treatment. Without it, they can be at risk for potentially lifethreatening complications. The earlier some treatments are started, the better the outcomes are likely to be. Knowing the signs of Marfan syndrome can save lives. Our community of experts estimates that nearly half the people who have Marfan syndrome don t know it. This is something we are working hard to change. HOW IS THE BODY AFFECTED? Marfan syndrome and related disorders affect the body s connective tissue. Connective tissue holds the body together and plays a role in its growth and development. Because connective tissue is found throughout the body, Marfan syndrome and related disorders can affect many parts of the body, including the heart and blood vessels, bones and joints, eyes, skin, and lungs. Below is a short summary of Marfan syndrome features. You can get more detailed information about the effects on each system by clicking on the links provided. Heart and blood vessels (cardiovascular system) Enlarged or bulging aorta, the main blood vessel that carries blood from the heart to the rest of the body (aortic dilation or aneurysm) Separation of the layers of the aorta that can cause it to tear (aortic dissection) Floppy mitral valve (mitral valve prolapse-mvp) Bones and joints (skeletal system) Long arms and legs Tall and thin body type Long, thin fingers Curvature of the spine (scoliosis or kyphosis) Chest sinks or sticks out Flexible joints Flat feet High-arched palate Teeth that are too crowded

3 Eyes (ocular system) Severe nearsightedness (myopia) Dislocated lens of the eye Detached retina Early glaucoma Early cataracts LORD BUTE TRIBUTE TO THE MUSICALS AND AUCTION IN AID OF MARFAN SYNDROME Friday 4 th March To raise awareness of Marfans Syndrome and help raise funds for more research, we are organising a fund raising evening at the Lord Bute, this evening will consist of a 3 course meal, a charity auction and West End singer Christopher Howard singing some well know songs from shows such as Cat, Phantom of the Opera, Les Miserables to name a few. We have produced this flyer to help sell tickets which cost per person and also to ask for donations to either the Auction or the Just Giving Website that has been set up in memory of my son Liam, with donations going to the Marfan Trust. Tickets for the evening can be reserved for the night by ringing The Lord Bute If you would like to donate a gift for the charity auction, please contact Jan & John Carrigan or or our landline to leave a message and we will get back to you We have lived in Highcliffe since 2010 and our son passed away in 2012 while he was working in Thailand as a teacher to under 6 year old children, his death was completely unexpected

4 Below is an extract from the local paper of the village we used to live in Sudbury in Suffolk. The family of a teacher who died from a heart attack last year have expressed their happiness at the placing of a memorial bench in one of his favourite Sudbury spots. Liam Steer, 27, collapsed while teaching a class in Krabi, Thailand, a year ago. His death was thought to be connected to Marfan syndrome, a hereditary condition he suffered from. Mr Steer was a former Sudbury Upper School pupil and had lived in Thailand for six years, teaching in Bangkok and becoming head of English at the Chokchai school I would like to Thank You in anticipation of any donations and support that you are able to give. Jan & John Carrigan Fulmer Court Highcliffe

Use argument supported by evidence for how the body is a system of interacting subsystems composed of groups of cells. MS-LS1-3

Use argument supported by evidence for how the body is a system of interacting subsystems composed of groups of cells. MS-LS1-3 Grade Level: Middle School Number of Students: Instructional Location: Date: Instructional Hours or Class Periods/days: 2 Lesson Goals Central Focus of Lesson: What disease does the patient have? How does