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Marfan Syndrome

 

What is Marfan Syndrome?

·         Marfan Syndrome is also known as MFS; is a genetically transferred disease. MFS affects your connective tissue.  It affects the skeleton, eyes, heart and blood vessels, nervous system, skin, and lungs. 

What are the Symptoms and Characteristics of Marfan’s Syndrome?

Some of the characteristics of Marfan Syndrome include:

·         Tall, slender body build

·         Long arms, legs, fingers, and toes

·         Long and narrow face

·         A highly arched mouth roof, and crowded teeth

·         A receding lower jaw, causing an over bite.

·         A sunken chest

·         A curved spine.

·         Flat or majorly arched feet

·         The lenses of your eye are dislocated

·         Cardiovascular problems, the main arteries will tear and rupture

·         Nervous system is worn away in the bone surrounding the spinal cord

·         Stretch marks appear on the skin, these do not go away.

·         The lungs get stretched, and this can lead to a lung collapse

·         The risk of getting a hernia increases

How is passed down?

o   Since MFS is a genetically transferred disease, it transferred from child to parent.   MFS is autosomal dominant, which means even if you are a carrier, you show the symptoms.   This makes the chance of getting MFS higher.  MFS exists, because there is a disorder in the 15th chromosome, making it impossible to remove. 

Whom can MFS affect?

·         Marfan Syndrome affects people’s connective tissue.  Connective tissue is a very important part of your body, it is the adhesive that keeps your body together.  The connective tissue in people with MFS is weaker than those without it.  This is because their body has a defect in its fibrillin production.  Fibrillin is a special protein found in your connective tissue. 

·         To have the disorder, is like to have any medical problems, you have to be careful.  With MFS you may need to get more surgeries than what you would have to get as a person without it.  The surgeries that you might need would be for your heart and your skeleton.  Also when you have MFS you need to eat healthy and take your medicine, if you do not take your medicines or eat healthy then you will have problems and you may not live as long.   With any healthy life you also need exercise, MFS does not make it impossible for you to do physical activity, and it is really necessary that a person with MFS exercises to stay healthy.  Lastly with any serious medical condition you have to a team of doctors to tend to all of your needs.

·         MFS is a genetic disorder that is passed down from parent to child.  It affects your connective tissue, which holds you all together.

·          MFS is a disorder that affects you externally and it affects you internally.  It is because it affects the way you look, height and weight, so it is external.  It is internal because it can cause heart and lung problems.

    The problems that come with MFS or increase your risk (if you have MFS)are:

o   Scodiosis

o   Lordosis

o   Kyphosis

o   Heart problems

o   Mitral valve prolapsed

o   Enlargement of the Aorta

o   Nearsightendness

o   Large Lung air sacs

o   Stretch marks

·         MFS is not a physically limiting disease, you just need to be properly medicated.   With MFS it does not affect the way you think, talk, or walk.  People with MFS can still play sports.

·         Before all the information that we have today, people with MFS would not live as long as those without it.  Today though,  they can still live an average life span. 

·         MFS is potentially fatal for those unaware they have it, or those who are not properly medicated. MFS is potentially because you can have a lung collapse or your main arteries could rupture.  There are a few other things that could happen,  but actually have MFS is not going to kill you.

·         MFS affects everyone.  This disease does not affect on ethnic group more than another.  Both men and woman can get it and have an equal chance of getting it. It is not more common in one religious group over another.  All ages are affected by MFS, from babies to senior citizens. Marfan Syndrome can affect everyone.

Are there any cures or treatments for Marfan Syndrome?   

     There are treatments for MFS, but the treatments are few and they just help the complications that lead to death. The treatments, also can improve physical appearance and limit the disfigurement that you have with MFS.  The basic defect of MFS is your connective tissue, and it can be given medicine and surgeries to make it stronger.  Some of the symptoms from MFS can be treated, others can’t.  As of right now, there is no cure for MFS, but there is hope, scientist have discovered more about Flibrillin, which makes the connective tissue. (With your donation, they would be getting closer.) MFS has some types of gene therapy, the main type is for people who have had a mechanical heart or other organs replaced. 

What test can be done to detect Marfan Syndrome?

     Before the symptoms appear, doctors can check to see if there is a possibility of getting MFS.  To do this the doctors must have a detailed family tree and a medical history.  Since MFS is autosomal dominant, even carriers show the symptoms.  It would be easy to tell if someone was a carrier opposed to being dominant.  You would just check to see if both the parents had the disease or not, if they both did, the chances for the child to be dominant are greater.

 

 

                                                                                         
 
 

Evan couldn't wait for school to begin. All summer long, he'd looked forward to trying out for the basketball team. He'd be a natural, everyone told him. At 14, he pretty much towered over his classmates.

But when the time came for his sports physical, the doctor noticed some things about Evan that warranted a closer look. It wasn't just that Evan was really tall for his age and compared with other people in his family. In addition to being  6'1", his arms, legs, and fingers were very long and thin and his breastbone curved inward, giving his chest a caved-in look.

The doctor told Evan that he couldn't give him the OK to try out until Evan had a few medical tests. Why? Because he suspected that Evan might have a genetic disorder called Marfan syndrome.

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Please help us find a cure for Marfan Sydrome.  There is hope, once we are able to research more about the Fibrillin 1.  No amount is too small and every dollar counts. Imagine if you were going through the pain of this disease, help the people who are in need of your money.  To donate, please click the link below.                                                  
 

Please Donate Now!

 
 
Sources

National Marfan Foundation
Medicine Net
National Heart Lung and Blood Institute
Kids Health
Wrong Diagnosis
Marfan Syndrome