Marfan's Disease

By: Kristen Waldroup, Kati Edwards, Kersten Lucas

What Causes Marfan's Disease?

Marfan Disease is a condition in which your body's connective tissue is abnormal. Connective tissue helps support all parts of your body. It also helps control how your body grows and develops. Marfan's Disease is a genetic disorder. It is a mutation in the gene that controls how the body makes fibrillin causes Marfan Disease. Fibrillin is a protein that plays a major role in your body's connective tissue.

How is Marfan's Disease Inherited?

Most commonly this disease is passed down from parent to child. If you inherit Marfan Disease, you have a 50 percent chance of passing the altered gene to each of your children.

In about 1 in 4 cases, Marfan's Disease is not inherited. In that situation the person that is affected is the first case in the family. How Juilette inherited it, both or one of her parents had the mutation and passed it down to their child.

How does Marfan's Disease Affect the Daily Life?

Some kids might get made fun of for being so tall and skinny. You might be smart, but you have vision trouble so you have to have a teacher help you. But everyone that has Marfan's Disease is just like everyone else. If you partisipate in a sport, it is not good for you to put all the strain on your heart.

How can it Affect Juliette?

Juliette is the star high school basket ball player on her team. She needs to be careful because anything that irritates her heart, can have an effect on if she can play or not. If she keeps continuing playing basketball, it could put so much stress on her heart she could die. If the sport is to complicated such as running a lot, she should consider sitting out so nothing happens.

Genetic Testing

Possible genetic test are, eye exams such as Slit-lamp exam. This test checks for lens dislocation, cataracts or a detached retina. Your eyes will need to be completely dilated with drops for this exam. Eye pressure test. To check for glaucoma, your eye doctor may measure the pressure inside your eyeball by touching it with a special tool. Numbing eyedrops are usually used before this test. You can also get an MRI or a CT scan on your heart. These check the size of your aorta and check the condition of your heart valves.

How Would the Genetic Counselor Help the Family?

The genetic counselor would explain to the family what the likely hood of the disease would be, such as genetic testing for the families in the future. what the chance would be for the child they had they will tell them the life expectancy would be and what their daily life will be like.

Juliette only has a mild case and she needs to stop playing sports, because if she keeps going it going to cause brain aneurysms and she could die. It could make the condition a lot worse.