Marfan’s Syndrome: A day in the life…

By a patient named Delaney Olsen <3

I am just like you except I have a disease called Marfan's. Outside I am:

• Tall, skinny, and have long arms, legs, fingers, toes.

• Have flexible joints everywhere! • Have crowded teeth, a high palate, and a split

uvula. • Have flat feetInside I have: • A heart murmur that could be deadly…• A spunky personality! • Hypoglycemia • Allergies to nature and food

Look at yourself…Then look at me…

Examples:

I have these: • Split uvula• High palate/roof Other patients have these:• Pectus excavatum/ pectus carinatum• Scoliosis • Dislocated lens • Enlarged aorta or floppy

mitral valve

Punnett SquarePunnett Square

Bb x BbBB

Bb

Bb

bb

B

b

B b

1/4 = BB – No Marfans1/2 = Bb - Carry Marfans1/4 = bb - Have Marfans

What went wrong?

• Caused by a mutation in the fibrillin-1 gene that tells the body how to make the protein fibrillin that makes up connective tissue.

• Connective tissue is found in all body systems; eyes, muscles, ligaments, skin, heart, blood vessels, lungs, nervous system.

• 3 out of 4 people inherit the mutation from a parent who has the disorder. The other 25% is the first to get in their family.

• People with Marfans have a 50-50 chance of passing on the mutation each time they have a child.

Help! I have other questions! • Can you die from this disease? • Marfan’s Syndrome IS fatal because if the aorta is stretched it could

possibly rupture or break which results in death. • How many people in the U.S. have Marfan’s? • 200,000 people in the U.S. are affected by Marfan’s or a related

disorder.• Often hereditary but 25-30% of patients are the first in their family. • Can people tell when they have Marfan’s? • Thousands do not even know they’re affected!• Right away when you’re born can you die? • Like me, you’re born with the disease and around the teen years is

when you first start to notice symptoms. It gets worse as you age.

Ooh! Famous people!

Do you have Marfan’s?

• See word documents…

How long will I live?

• There is no cure for Marfan’s which was hard for me to take in, but I take pain medication that helps immensely, I limit doing any hard impact sports, meaning I just do swimming and walking, and I get echocardiograms done to monitor my heart.

• Treatment is basically monitoring your heart, teeth, and skeleton. • By doing this it is very possible I will live a healthy, normal life –

span. Yay!

The End! Thanks for listening and

participating and maybe someday soon, you can save a life! <3