Dustin Morrison via Crowdrise
September 25, 2013
BENEFITING: LuMind Research Down Syndrome
EVENT DATE: Oct 13, 2013
Sparkling green eyes and a big heart
My cousin Emeline (or the “Little One,” as I call her) was born on October 10, 2005.
She is a lot like most seven-year olds. She loves learning, Spongebob Squarepants and chocolate milk. According to her mom, she'd have spaghetti for breakfast, lunch, and supper every day if she had her way. Her favorite book is “What Makes a Rainbow?” She loves coloring, painting, playing outside, and swimming.
There are a few things that are unique about Emma though. For instance, she is one of the warmest most big-hearted people I have ever met. Last year at Christmas time, when we were all leaving our yearly reunion, she just kept hugging all of us. One by one, she made a big circle and hugged each one of us about three or four times until we all finally had to go. She is also different from most kids her age in that she actually enjoys doing her chores, which include everything from emptying the dishwasher to bringing the chicken eggs inside.
But there is one other thing that makes her different from most other seven year olds:
Emma has Down Syndrome.
Why I am running
On April 7th, 2012, I ran the Lincoln Presidential Half Marathon in Springfield and raised money for the Down Syndrome Research Foundation. With all of my friend’s and family’s support, I raised $650! I was so happy that everyone played such a big part of helping such a wonderful cause, and really took it again.
On October 13th, 2013 (this year), I will be running the Chicago Marathon to raise money again for this important cause.
What your contribution does
Part of the reason that Emeline is thriving is because of research that was done in years past, that showed that early intervention was extremely beneficial for children with Down Syndrome. Emma received early intervention, and continues benefiting from therapies and services that are helping her reach new goals all the time. Research continues to be done today, promising research that gives hope to people with DS and their families as the work continues to find ways to improve cognition, which means more open doors of opportunity in the future.
It’s so wonderful to know that, in OUR lifetime, we have come so far to help and that YOU can be part of the cause!
“We don't have a crystal ball," Emma's mom says. "No parent knows what the future will hold for their child, but we do know that because of Emeline's Down Syndrome, there are some very real challenges awaiting us still.”
Emeline's diagnosis of Trisomy 21 (more commonly referred to as Down Syndrome) was made before she was born, via amniocentesis. She has an extra copy of chromosome 21, meaning she has 47 chromosomes instead of the typical 46. At birth, Emeline had a patent ductus arteriosis and a patent foramen ovale- two different heart defects. She had low muscle tone and consequently, difficulty feeding. She was fed through a nasal-gastric tube her first several days and spent her first week in the Neonatal Intensive Care Unit. At 10 days old, she was released from the hospital to go home.
The first two years of Emeline's life were not significantly different from that of most children, with the exception of meeting developmental milestones. While most infants are sitting up independently by 4-7months, Emeline was almost 11 months before she was sitting up on her own. Other milestones were delayed, as well. Typical infants crawl at around 8 months; Emma was 22 months before she crawled. Most children walk at around 12-18 months. Emma was 3 years old before she walked independently. Her fine motor skills and speech were delayed as well-all because of that one extra chromosome.
At two-and-a-half, Emeline had a seizure, which turned out to be just the beginning.
Hypoparathyroidism, then Hypoaldosteronism, and finally, Addison's Disease. These three diagnoses are all rare (and inter-related) auto-immune diseases and make Emma's life a little more complicated.
But that did not change a thing about the smile that is almost always on her face.
Unrelated to these endocrinological problems, Emeline was also diagnosed with some gastro-intestinal issues, and sleep apnea. She has also had several surgeries, These procedures were all done before Emeline's 5th birthday.
This past spring, Emeline, now 7, was diagnosed with Stage 3 CKD (Chronic Kidney Disease), and she is getting ready in the next couple of weeks to have a g-tube (feeding tube) placed surgically to provide the fluids necessary to preserve her kidney function, and a Nissan fundoplication surgery to provide a permanent solution to GERD (Gastro-Esophageal Reflux Disease), which can no longer be treated with medication because of her kidney disease.
In spite of all of her on-going health challenges, Emeline is making good developmental progress. She is speaking well, and continues benefiting from speech therapy. At the end of first grade, she was reading end-of-first-grade material; she LOVES to read independently, but she's not as fond of math. She is a big fan of Disney movies and live theater. She loves music and began taking piano lessons this year. Emma may have medical challenges, but these challenges don't stop her. She is active, happy, and full of life. She may have Down Syndrome, but Down Syndrome doesn't define her. If there is one thing Emeline is doing with her life, it is showing people that the only limitations there are, are the ones we put on ourselves. The sky is the limit, and Emeline is determined that she is going to soar.