My name is Giannely (Jeè-ah-neh-lee) Rosa. My friends and family call me Gigi.
I was born at the Arnold Palmer Hospital for Children in Orlando, Florida on October 18. 2003.
My parents are Spanish from Puerto Rico, and my ancestry has roots in Spain, Italy and Sicily.
When I was born, doctors immediately suspected that something was wrong with me. They said I was "floppy", which means I lacked movement like other babies. My arms and legs were weaker than normal. I was taken for observation and admitted to the newborn intensive care unit, or NICU. There, doctors found that my motor functions weren't as responsive as they expected. Two weeks later they conducted a muscle biopsy on my right thigh. They diagnosed me with a very rare muscle disease called Congenital Muscular Dystrophy, sub-type Merosin Deficient-Negative, which means I have a total absence of the muscle protein merosin, also known as Lama-2 scaffolding protein, resulting in muscle weakness and atrophy. In a nutshell, my muscle cells break down faster than they can rebuild, and since the glue-like protein that covers the outside of the cells is missing, the cells can't stick to each other too well, so like a building with no sticky cement between its bricks, its walls eventually collapse after a certain height... my muscles too just break down as well. I was also diagnosed with a rare neuromuscular condition called Distal Arthrogryposis Multiplex. This condition caused some deformities in my wrists, hands and feet, which prevent me from bending my fingers, making a fist, grabbing and gripping objects or holding on to things like other kids my age. My feet also gave me trouble, but were corrected by surgery. When I was two months old, they performed a heel cord tendon release on both my feet and another one when I was one year old. Since then, my feet have been very straight with the help of plastic braces called AFO's, which I wear everyday and night.
I had my first surgery at the Nemours Clinic in Downtown Orlando. It was performed by a doctor named Dr. Jonathan M. Price. The second was performed by another doctor named Dr. Dennis Grogan at the Shriners Hospital for Children located in Tampa, Florida. I have been through quite a few evaluations and have been seen by many specialists like neurologists, geneticists, therapists and other physicians. All have had various opinions and feedback on my condition. Some doctors told me that I will never walk, while other say one day I'll run alongside my parents. One doctor even told my parents that I may develop respiratory and cardiac problems, resulting in my early death at seven to eight years of age. Another doctor who worked at the Muscular Dystrophy Association told my mommy that my eyes were crooked and he suspected I had an eye-muscle disease. So, I went to an ophthalmologist. He told me that my eyes were perfectly straight. We also went to a cardiologist. He said my heart was as strong as oak.
So far, I see just fine, I breath just fine, I take baths by myself, I even swim at the pool by myself, I crawl and even walk with my walker, I get up on the sofa and get down from my dad's huge bed by myself, I ride my tricycle... I even do Kung-Fu with my daddy! I eat by myself... it's true... I make quite a mess... but I'm only two... I'm allowed! I love to play video games on my parents' computer. My favorite shows are the Wiggles and That's So Raven on the Disney channel. My favorite movie is Finding Nemo. I speak both English and Spanish, and can carry on a small conversation just fine. Last October, my daddy took us to the Butterfly Museum in Key West. There I got to see the most beautiful butterflies in the world. That same week, we went to the Mayan ruins in a town called Tulum, in the Yucatan peninsula of Mexico. We hiked all day and never got tired. Of course, my daddy carried me most of the time, but I wasn't complaining.
I've seen all the Disney princesses at Walt Disney's Magic Kingdom and even played with dolphins at Sea World. I'll keep in touch and let you know more about my life as time goes on. In the meantime, I'll be trying to grow and learn new things...