Part 1

Hello their if you wanna learn more about Marfan syndrome then follow me through Sharkeisha’s body. I am a gene that caused sharkeisha to have a defect in her body but what really caused her the defect is the connective tissue that holds all of the bodies cells ,organs and tissue together. It also plays an important role in helping the body grow and develop properly just like any connective tissue. Connective tissue is made up of proteins the protein that helps cause mafan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect in the gene that tells the body how to make fibrillin-1.This defect results in an increase in a protein called transforming growth factor beta, or TGF-B. The increase in TGF-B causes problems in connective tissues throughout the body and that causes mafan syndrome. Since connective tissue is found everywhere in the body it affects diffrent body parts which can be life threatening. The disorder is most often found in the heart, blood vessels, bones(whole skeleton), joints, and eyes the lungs, skin and nervous system may also be affected. Marfan syndrome only affects the body but not the intelligence of the person just like Sharkeisha (she got straight A’s). Sharkeisha got marfan syndrome from her dad who also has marfan syndrome because there is a 50 percent chance that a person with Marfan syndrome will pass along the genetic mutation each time they have a child so sharkeisha is 1 out of 5000 people who has this mutation. Because of me (the gene) Sharkeisha has a lot of features of a person with marfan syndrome like :

Long arms, legs and fingers

Tall and thin body type

Curved spine

 

Chest sinks in or sticks out

Flexible joints

Flat feet

Crowded teeth

Stretch marks on the skin that are not related to weight gain or loss

 

 

 

Complications:

Cardiovascular complications

The most dangerous complications of Marfan syndrome involve the heart and blood vessels.

Aortic aneurysm. The pressure of blood leaving your heart can cause the wall of your aorta to bulge out (the large artery that arises from the heart and supplies blood to the body).

Aortic dissection. The wall of the aorta is made up of layers. Dissection happens when a small tear in the layer of the aorta’s wall allows blood to squeeze in between the inner and outer layers of the aortic wall. This can cause severe pain in the chest or back. An aortic dissection weakens the vessel’s structure and can result in a rupture, which may be fatal.

Eye complications

Lens dislocation. The focusing lens within your eye can move out of place if its supporting structures weaken.

Retinal problems. Marfan syndrome also increases the risk of a detachment or tear in the retina

Marfan syndrome increases the risk of abnormal curves in the spine, such as scoliosis. It can also interfere with the normal development of the ribs, which can cause the breastbone to either protrude or appear sunken into the chest. Foot pain and low back pain are common with Marfan syndrome.

When Sharkeisha was born she had get hooked up by a bunch of machines to help her breath because with Marfan syndrome your lungs can collapse so you would have to be careful Sharkeisha also had to be handled very carefully because her bones are very fragile and could break easily but with lots of care and medicine sharkeisha grew strong and is now taller then her mom but she can’t play sports that involve harsh physical activities because her lungs can have some problems, she can break a bone or disconnect a joint, and her heart may not pump blood that fast for the rest of her body to work properly. BUT she is still a straight A student and is really good at reaching things on high places. 🙂

Part 2: Making of the mutation story

To make the mutation story i needed to ask google a lot of questions about Marfan Syndrome but the first important questions i asked was how does marfan syndrome affect the person, how many people have marfan syndrome, how do you get marfan syndrome, what are the complications of marfan syndrome (whats wrong with the body), and what medications can help with making life easier with marfan syndrome.

Youtube helped me know how a person with marfan syndrome looks, how if affected them and they explained how people always stared at them. Some of the websites i used was https://www.marfan.org/about/body-systems and http://www.mayoclinic.org/diseases-conditions/marfan-syndrome/symptoms-causes/dxc-20195415

The process i used was my questions and i used google to find my questions.I first wanted to do down syndrome but someone took that topic so i wanted to do something that no one really recognizes and it was either dwarfism or marfan syndrome and i chose mafan syndrome because i wanted to learn more about it.

When i was doing my research i found a site that would answer all of  my questions and give me new questions and that site is called The marfan foundation (the link above) and you can volunteer and possibly meet people with marfan syndrome which i thought was really cool.

The process of completing this challenge went simple but long because i wanted to add so much stuff but in order for me to do that i had to do lots of research and i feel like i could have made this ‘project’ longer and add more pictures but at the same time not flood the viewers with so much information.

I really enjoyed doing this challenge (work) because what people with marfan syndrome look just like normal people and if you study the disease you can understand what the person is going through and if anyone else is reading this and they might have marfan syndrome they can relate and learn more about this mutation.