Jaden

My name is Jaden and if I could talk, I would tell you the following story about my life so far. My mommy (whose name is Melissa) and daddy (whose name is Andy) met in England when my mommy was on a business trip. Mommy is American and Daddy is English. They fell in love and Daddy moved to America where they lived together in Annapolis. Mommy’s friends ask her where they can find the man of their dreams and she says “England.”

I was born in Annapolis, Maryland , 2003, about one month after my parents’ first wedding anniversary. I was not born premature, but Mommy was diagnosed with IUGR (Inter-Uterine Growth Restriction) near the end of her pregnancy. I was born with a low birth weight of 5lbs13oz and low muscle tone. I may have been small but I certainly had lots of hair! I also had an “Angel’s Kiss” on my forehead. Since then I have always grown very slowly, a condition that my doctors called “failure to thrive” in my first year. Because of my low muscle tone I got tired easily when sucking my bottle, and in fact, when I was 5 days old I had to go back into the hospital because I was dehydrated. The doctors did many tests but they had no answers.

When I was five months old we moved to North Carolina, and around the same time my parents and doctor noticed that I was not achieving some of the textbook milestones. I got several new doctors including a geneticist and a pediatric neurologist at UNC Children’s Hospital. They, too, did lots of different tests and sent them to many other smart doctors around the country. No one could diagnose my challenges. My Nana (grandma) says it is because I am an angel sent from heaven and no one knows what milestones angels are supposed to meet.

That year I was hospitalized with the flu. It was a scary time because lots of children were suffering. Because I did not have my diagnosis, the doctors did not know that my condition made me very high risk for respiratory distress. I was in the hospital for over a week but recovered. I also got glasses that year to help me see better. Later I would have eye surgery to correct my strabismus, a condition in which the eyes are not properly aligned with each other.

Three weeks before my first birthday my baby sister Jasmine was born. And boy is the house louder now that she’s around! She is full of energy and talks all the time. I’m so glad she’s around to entertain me and look out for me. I also get to see my half-brother, Adam, more often because we all live in Virginia now and he studies at Virginia Tech.

One Saturday when I was two, I started having grand mal seizures. It was very scary. My mommy was away for work, so it was my daddy and Nana who got me to North Carolina Children’s Hospital. Medication has controlled my seizures since then. This is another characteristic of my syndrome that we did not know at the time. When I was three years old, I got my first wheelchair. Zoom, zoom, zoom!

In 2012, I was invited to participate in a genome sequencing study at Duke University, and finally, after 10 years of not having a diagnosis, I found out that I have a gene mutation of ASXL1 called Bohring-Opitz Syndrome. I am part of a special group of less than 40 people in the world who know they have this syndrome! We all have a lot of physical traits in common, and sadly, less than half of us are still living. Our families have linked up via social media to share pictures, stories, and support. We are a very special family. Much needs to be learned about this rare syndrome. The first research studies were only published in 2011.

If you ask me to name a few of my favorite things, I would have to say cupcakes, anything with whipped cream, musical instruments, and books. I am a very happy girl and love attention. I love school – especially my friends, teachers, and the therapy dogs. I am very popular! Mommy says I bring more love to the world and that when you get to know me, you’ll know what she means.

-Jaden