All About UsOur daughter, Ellie, was diagnosed with Prader-Willi Syndrome on May 8, 2009 when she was 2 years and 2 months old....
We never thought we would have a child with a rare genetic disorder – a disorder that few people have heard of, and even fewer people understand. Our Ellie has small hands, small feet, and a smile that lights up any room. She is determined, persistent, and inspires us every day. She is practically perfect - but the road ahead of her will likely hold many challenges for her and us as well. That’s why we are writing to you today.
Ellie was born with Prader-Willi Syndrome (PWS), a genetic disorder that randomly strikes 1 in 15,000 kids. Kids with PWS have insatiable hunger, decreased metabolism, low muscle tone, learning difficulties, and behavioral problems. Of all the characteristics associated with PWS, the one that will cause the most challenges for our family will be Ellie’s battle with hunger. Any day now Ellie’s hypothalamus most likely will stop functioning properly. Ellie won’t get the message that her stomach is full like everyone else. The result will be a constant battle for Ellie with the feeling that she is starving. This hunger could lead to obesity and all of its related side affects.
Every day Shawn and I wake up relieved that so far Ellie is not experiencing this insatiable hunger, but we know it may start any day. Ellie has already faced many challenges as a result of PWS. She had a difficult time feeding for the first 3 months of her life. She rarely cried or was even awake for prolonged periods of time. Ellie was a "floppy" baby due to her low muscle tone (hypotonia). This low muscle tone made it difficult for Ellie to learn to crawl, sit up, and walk. Ellie has also had to work harder than most to learn to talk and to acquire new skills that come naturally for most others. In her 4 short years, Ellie has learned a lot about hard work, perseverance and persistence.
This persistence has served Ellie well. She learned to crawl at 14 months, walk at 17 months, and is currently starting to speak in 2 word sentences. She loves to practice jumping and she amazes us all every day! These accomplishments have been a result of her persistence and many hours in physical, speech, occupational and hippo (horse back riding) therapy. Ellie has overcome a lot of challenges already yet some of the most difficult are yet to come.
Despite the challenges that PWS has thrown at Ellie, I am hopeful. I believe that the best way to make things better for Ellie is through research. That’s why my family got involved with the Foundation for Prader-Willi Research, and why FPWR's mission - to eliminate the challenges of PWS through the advancement of research - is so important to us. FPWR has been leading the way in advancing PWS research for the past five years, energizing the field with more than a million dollars of research support. Biomedical research is moving at an amazing pace. There are new technologies, a new understanding of the hormones that regulate appetite, and new drugs in development that might curb Ellie's hunger or help her navigate the emotional challenges of PWS.
Our family is committed to helping support research into PWS. This is why we are hosting a 5K race, “Go the Extra Mile,” on May 22nd, 2011 at Hickories Park. The money raised from this event will go directly to the Foundation for Prader-Willi Research. Last year, many very important research grants went unfunded. Research is the key to helping Ellie live to her greatest potential.
Thank you for helping us fight Prader-Willi Syndrome,
Rachel, Shawn and Ellie (and now Shayna too!) YouTube Video |