Sparkling green eyes and a big heart

My cousin Emeline was born on October 10, 2005.

She is a lot like most six-year olds. She loves Kindergarten, 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. This 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 six year olds 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 six year olds:
Emma has Down Syndrome.

Why I am running

On April 7th, 2012 I will be running the Lincoln Presidential Half Marathon (13.1 miles), and with YOUR support, I will raise money and awareness for this cause. Your contributions will go to the DSRTF to support research for Down Syndrome. I know that many of you have fallen on hard times. However, any support you are able to provide to this cause will be greatly appreciated. $5, $10, $100- anything helps!

What your contribution does

Less than 30 years ago, the life expectancy for a person with Down Syndrome was 25 years. Now, it is almost 60 years. Organizations like the Down Syndrome Research and Treatment Foundation (DSRTF) make a huge difference for individuals living with Down Syndrome and their loved ones.

“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.”

 

Emma's Journey

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, including two eye surgeries, ear tubes (3 times). She has also had her tonsils and adenoids removed. These procedures have all been done before the age of 5.

All of these health issues are complications directly related to having Down Syndrome.

Clearly, the degree of cognitive development that Emeline will attain is still a great unknown. In addition to the intellectual delays that Down Syndrome cause, it is discouraging to learn the fact that every person with Down Syndrome develops by age 40 (some, even earlier) the brain pathological changes of people with Alzheimer's Disease.

*For more information about DSRTF, please check out their website at dsrtf.org.
*For more information about Down Syndrome, please check out the website of the National Down Syndrome Society: ndss.org.
*For more information about Emeline, feel free to check out her blog: www.agirlnamedemeline.blogspot.com