Marfan+syndrome_OliviaGuidone

Marfan syndrome Marfan syndrome_OliviaGuidone Marfan syndrome_OliviaGuidone []

Pedigree:

1) Louis, who is not affected by Marfan Syndrome, married Katie, who is affected. 2) They had 4 kids names Carrie, Lexi, Bob, and Barry. They are all affected. 3) Carrie married Brandon, who is not affected. They had 2 boys. 4) Their names are Alex and Jacob. Jacob is affected and Alex isn't. 5) Jacob marries Lila, who isn't affected, and they had a kid named Tommy who also isn't affected. 6) Bob married Laura who isn't affected. They had one kid named Tom who also isn't affected. 7) Tom married Susan who isn't affected. They had 2 girls named Amber and Liz, who alsob aren't affected. 8) Barry married Mary, who is affected. They had 2 kids, Julia and Dustin, who are also affected. 9) Julia and Dustin are both affected, and they had 3 kids. Their names are Drew, Brian, and Nina. They are all affected.

Story:

Marfan Syndrome is a serious disease that affects every 1 in 5,000 people, and I was one of them. My name is Billy and I’m 50 years old. Men, women, children and people of all races and ethnical backgrounds can get it. My life expectancy used to be about 41 years, but in the past 32 years it’s risen up to 70. That means I have about 20 more years or so, to live. When I was born, my fingers were very long and skinny for a baby, and I was also pretty light. I got made fun of all my life because of it. In school, my hands were way bigger than everyone else’s, and I was so tall that I practically towered above everyone. As a young child, I had a lot of heart problems, and terrible vision. I had to get glasses, which mostly corrected it, and had to have surgery done on my heart. Lucky for me, I couldn’t feel anything. I got this disease from my mom, which she got from her mom. I still have to go to get occasional echocardiograms, to make sure I am doing alright. It doesn’t hurt or anything, it is just a test on my heart using ultrasound waves to produce a visual display. No matter how much I eat, I’ll still be very skinny and underweight. I'm glad that I could share my story with you.

Best regards, Billy