Marfan’s syndrome


Published on

Published in: Health & Medicine
  • Be the first to comment

No Downloads
Total views
On SlideShare
From Embeds
Number of Embeds
Embeds 0
No embeds

No notes for slide

Marfan’s syndrome

  1. 1. Marfan’s Syndrome: A day in the life… By a patient named Delaney Olsen <3
  2. 2. <ul><li>I am just like you except I have a disease called Marfan's. Outside I am: </li></ul><ul><li>Tall, skinny, and have long arms, legs, fingers, toes. </li></ul><ul><li>Have flexible joints everywhere! </li></ul><ul><li>Have crowded teeth, a high palate, and a split uvula. </li></ul><ul><li>Have flat feet </li></ul><ul><li>Inside I have: </li></ul><ul><li>A heart murmur that could be deadly… </li></ul><ul><li>A spunky personality! </li></ul><ul><li>Hypoglycemia </li></ul><ul><li>Allergies to nature and food </li></ul>Look at yourself… Then look at me…
  3. 3. Examples: <ul><li>I have these: </li></ul><ul><li>Split uvula </li></ul><ul><li>High palate/roof </li></ul><ul><li>Other patients have these: </li></ul><ul><li>Pectus excavatum/ </li></ul><ul><li>pectus carinatum </li></ul><ul><li>Scoliosis </li></ul><ul><li>Dislocated lens </li></ul><ul><li>Enlarged aorta or floppy mitral valve </li></ul>
  4. 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. 5. What went wrong? <ul><li>Caused by a mutation in the fibrillin-1 gene that tells the body how to make the protein fibrillin that makes up connective tissue. </li></ul><ul><li>Connective tissue is found in all body systems; eyes, muscles, ligaments, skin, heart, blood vessels, lungs, nervous system. </li></ul><ul><li>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. </li></ul><ul><li>People with Marfans have a 50-50 chance of passing on the mutation each time they have a child. </li></ul>
  6. 6. Help! I have other questions! <ul><li>Can you die from this disease? </li></ul><ul><li>Marfan’s Syndrome IS fatal because if the aorta is stretched it could possibly rupture or break which results in death. </li></ul><ul><li>How many people in the U.S. have Marfan’s? </li></ul><ul><li>200,000 people in the U.S. are affected by Marfan’s or a related disorder. </li></ul><ul><li>Often hereditary but 25-30% of patients are the first in their family. </li></ul><ul><li>Can people tell when they have Marfan’s? </li></ul><ul><li>Thousands do not even know they’re affected! </li></ul><ul><li>Right away when you’re born can you die? </li></ul><ul><li>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. </li></ul>
  7. 7. Ooh! Famous people!
  8. 8. Do you have Marfan’s? <ul><li>See word documents… </li></ul>
  9. 9. How long will I live? <ul><li>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. </li></ul><ul><li>Treatment is basically monitoring your heart, teeth, and skeleton. </li></ul><ul><li>By doing this it is very possible I will live a healthy, normal life – span. Yay!  </li></ul>
  10. 10. The End!  Thanks for listening and participating and maybe someday soon, you can save a life! <3