Hi! My name is Anna Johnson and I'm 11 years old. I may look a little different than most people, but don't worry. I have a genetic disorder called Marfan Syndrome which makes me have really long arms and legs. It also affects the inside of my body, but you can't tell by my outside appearance.

When I was born, the doctors told my parents I had Marfan Syndrome. My parents were surprised since they have no family history of Marfan Syndrome, and my big sister doesn't have it either.

They learned that even though the disorder is usually autosomal dominant, it can be inherited by chance in any person. Since I have no family history of Marfan Syndrome, I received the disorder by chance.

This is my family's pedigree!

When I was about eight years old, I learned more about my disorder and what it really is. Marfan Syndrome is a rare genetic disorder that affects 1 in 5,000 people worldwide. It affects the connective tissue in my body that holds my cells, organs, and tissue together. Connective tissue is made of proteins and the protein that has a part is called fibrillin-1. Basically, there is a mutation, or change, in the gene that tells my body how to make fibrillin-1. This change increases the amount of a protein called transforming growth factor beta or TGFB for short. The increase in TGFB causes problems in my connective tissue. On the outside you can see it makes my face, arms, and legs longer, and I need to wear glasses because it affects my eyes. On the inside of my body, it affects my aorta, which is part of my heart, and my lungs, so i have to be extra careful when I'm being active.

Unlike some other genetic disorders, mine allows me to have a fairly normal life. I love to play with my older sister Maggie and my dog Scout. I lived a very normal life until...

One night I had a dream

I dreamed that I was a swimmer that had just won the Olympics!

When I woke up the next morning I told my family about my dream, and that I wanted to try swimming regularly. My parents thought it was a great idea as long as my doctor was okay with it.