Taking One Small Step For Ellie

October 16, 2012 at 9:20 am

Ellie Spearman’s smile is infectious. Her bright blue eyes are as big as her personality. The first baby to be born in 2012 in Spartanburg County, Ellie made local headlines.

What should have been the most precious moments of Gwyn and David Spearman’s lives, proved to be the most terrifying. Ten hours after Ellie was born, she was admitted to the neonatal intensive care unit (NICU) because of her low birth weight, inability to feed, and her “floppy” nature.  For the next 26 days, Gwyn and David spent every waking moment with Ellie — helping her learn to eat, holding her, sitting through the results of every test she underwent, and above all praying for their precious child.  On February 20, nearly a month after Ellie came home, they received her diagnosis of Prader-Willi Syndrome (PWS), a rare genetic disorder.

“Our world was truly rocked to the core,” said Gwyn.

PWS is the most common known genetic cause of life-threatening obesity in children. Although the cause is complex it results from an abnormality on the 15th chromosome. PWS doesn’t discriminate; it occurs in males and females equally and in all races. Prevalence estimates have ranged from 1:8,000 to 1:25,000 with the most likely figure being 1:15,000.

After receiving the PWS diagnosis, Gwyn said, “The next days and weeks to come seemed like a blur. We met with numerous specialists, arranged for therapy to begin, learned about various services that could help our daughter, worked diligently with Ellie to help her feed by bottle, and mostly just loved on her every waking minute. Throughout Ellie’s journey of life we have truly seen God’s provision, grace, and goodness.  Ellie has blessed our lives immensely.”

PWS typically causes low muscle tone, short stature if not treated with growth hormone, incomplete sexual development, and a chronic feeling of hunger that, coupled with a metabolism that utilizes drastically fewer calories than normal, can lead to excessive eating and life-threatening obesity. The food compulsion makes constant supervision necessary. Average IQ is 70, but even those with normal IQs almost all have learning issues. Social and motor deficits also exist. At birth the infant typically has low birth weight for gestation, hypotonia (weak muscles), and difficulty sucking due to the hypotonia which can lead to a diagnosis of failure to thrive. The second stage (“thriving too well”), has a typical onset between the ages of two and five, but can be later. The hyperphagia (extreme unsatisfied drive to consume food) lasts throughout the lifetime. Children with PWS have sweet and loving personalities, but this phase is also characterized by increased appetite, weight control issues, and motor development delays along with some behavior problems and unique medical issues.

“PWS has drastically affected the lives of my family,” said Gwyn. “We all have to think about our health, diet and exercise so differently. PWS makes you really think about eating. For Ellie, she will feel hungry all the time. So every time I put something in my mouth, I think about her.”

David echoes Gwyn’s concerns. “Every parent wants their child to live a happy, healthy and independent life. With PWS it is different. Most of the time, people diagnosed with PWS can’t live of their own because they require monitoring and strict dieting. The term ‘special needs’ has taken on new meaning because every child is special is his or her own way.  That term doesn’t really capture Ellie. Gwyn and I use the term ‘limited edition’ for Ellie.”

To help bring awareness of PWS, Gwyn and David have organized an event. One SMALL Step for Prader-Willi Syndrome, an Upstate 5K Run/Walk, will be held on Saturday, November 3 in the Susan Jacobs Arboretum at USC Upstate. Participants may check-in between 8:30–9:30 a.m. and the Run/Walk begins at 10:00 a.m. Registration is $20 or $40 to include an event t-shirt.

The event is “family focused” so activities are available for those who are not participating in the 5K Run/Walk. A nominal fee of $10, which will be donated to PWS research, allows participation in kid’s activities that include bouncy houses, face painting, balloon art, corn hole, etc.  These activities will take place until 1:00 p.m.

“I am so passionate about this event,” said Gwyn Spearman. “I really want to educate the community on PWS, raise awareness, and most importantly be an advocate for Ellie.” More information about this event is available on this flyer.

To register for One SMALL Step for Prader-Willi Syndrome, visit https://onesmallstep.fpwr.org/dw/users/gspearman/spartanburg2012. Donations can also be made to this effort on this website.