marfan’s syndrome
TRANSCRIPT
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Marfan’s Syndrome: A day in the life…
By a patient named Delaney Olsen <3
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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…
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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
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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
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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.
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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.
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Ooh! Famous people!
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Do you have Marfan’s?
• See word documents…
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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!
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The End! Thanks for listening and
participating and maybe someday soon, you can save a life! <3