The syndrome that I am living with is so rare that it is to this day undiagnosed. There are only 3 people in the world including myself who have it. Amanda, the oldest of the three is in her 30's and lives with her husband Richard in England. Abigail the youngest is 15 and lives in Austin as well. I've seen many different research doctors throughout my life and there just aren't any answers. The main symptom of the syndrome is that I'm not able to gain weight. Right now I am 23 years old and only weigh about 60 lbs. I have zero percent body fat as well. I'm also blind in one eye and have limited vision in the other.
I eat whatever I want all day long and just can't keep the pounds on. The syndrome is so puzzling because it fits characteristics of different syndromes but doesn't fit it to the point where I can be diagnosed with a certain one. For example, one of the big ones is progeria. I have a lot of the same physical features as kids with progeria. Like the pointed nose, small mouth, and appearing with aging skin. The difference is that progeria is terminal and has a lot more complications.
The small amount of information that I just wrote about is literally the only information my doctors know about my syndrome. It's just one big mystery and hopefully one day there will be a miracle and an answer to all our questions.
My parents are my world and I look up to them more and more everday. They are without a doubt my biggest heros. They will do anything for my family at the drop of a hat. My parents have taught me so much in life, to never give up on my dreams and to always reach for the stars. I hope to one day be the amazing mom just like mine. My dad is so funny and always knows exactly what to say to make me laugh. I love them both more than words can say.
My little sister Marina is 18 and I love her to death! Even though she is younger than me she is already taller than me and always says she is the older one! She is a very good athlete and is also in the band. Her and my little brother are both very protective of me, especially when we are in public. They don't like it when people stare at me. I love the random things she says sometimes and now that she is getting older we have more in common. I keep telling her to follow in my footsteps and become a cheerleader and she looks at me like I'm crazy! She wants to do her own thing! She will be a freshmen at Texas State University this Fall! Go Bobcats!!
I just got to say I love my brother! He's only 15 years old but I can just sit and have a conversation with him about anything in the world and I can just sit there and laugh at the random things he has to say! It's so exciting watching him grow up and learning more about his personality. He has such a good outlook on life and is always looking to make any situation fun!