Marfan’s syndrome
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Transcript

  • 1. Marfan’s Syndrome: A day in the life… By a patient named Delaney Olsen <3
  • 2.
    • 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 feet
    • Inside 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…
  • 3. 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
  • 4. Punnett Square Bb x Bb B b B b 1/4 = BB – No Marfans 1/2 = Bb - Carry Marfans 1/4 = bb - Have Marfans BB Bb Bb bb
  • 5. 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.
  • 6. 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.
  • 7. Ooh! Famous people!
  • 8. Do you have Marfan’s?
    • See word documents…
  • 9. 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! 
  • 10. The End!  Thanks for listening and participating and maybe someday soon, you can save a life! <3