Family Stories - Children 6-12
Nicole Stone
Valentine's Day is often a time of expressing our affection for those in our lives who are dear to us. For Pat and Cheryl Stone, however, what they received on Valentine's Day of 2001 touched their hearts in a very different way. That day, instead of hearts and flowers, the Stones received a diagnosis of Prader-Willi syndrome for their precious daughter, Nicole.
"It was the mind-numbing revelation that bonds us all," says Pat. "This is not an experience that can really be described."
Everyone whose child has been given this diagnosis knows exactly what he means. There are no words to describe the pain, the fear, and the sense of hopelessness that those words bring. In spite of this, the Stones soon regrouped and sensed that not only did they have a challenge, but they had a "call to action." That's when they joined FPWR.
"The best remedy for us was to become educated and work to change the outcome," said Pat. "Up until an event like this happens, we measure quality of achievement. Afterwards, you learn to measure quality of spirit. This is the lesson that Nicole came to teach us. It's not what you can do, it's who you are."
For the Stones, the mission of FPWR was consistent with their approach to PWS. "FPWR follows what we felt was the most direct path that science has to offer for Nicole," stated Cheryl. "We weren't a family in need of social support per se. We were a family in need of a treatments and a cure! With FPWR, there was no pussyfooting around. This was a direct line to a cure and that just felt right."
In spite of PWS, the Stones view the future with hope. As they continue to work day to day on Nicole's behalf, they are encouraged by all the amazing science and the promise it holds to help Nicole and everyone else with PWS.
The enthusiasm that Pat and Cheryl have for FPWR has spread among their family. Cheryl's mother, Nelda Ostgard, has generously given $60,000 over the years to support PWS research in honor of Nicole. This is a family who knows how to put their thoughts into action!
Valentine's Day 2001 wasn't what the Stones had ever expected, but their love for Nicole grew stronger than ever on that day and their commitment to her future and FPWR is clear. "FPWR is extraordinary. We're so pleased with how well the work of FPWR is going," said Cheryl.
Those of us in FPWR will continue to work hard and work smart so that Nicole Stone, and everyone else affected by PWS, will have the healthy and happy lives they deserve. Thanks to families like the Stones, we are confident of our ability to do just that. We have taken the lead. We WILL change the future!
Emma Roth
In the summer of 1999, Mark Roth and Lauren Schwartz-Roth of Seattle, WA were expecting their first child with great anticipation. However, during the pregnancy, Lauren noticed decreased fetal movement, and when the doctor confirmed that the baby was too small, it became apparent that something was wrong. "We were terrified," said Lauren. Lauren was admitted to the hospital, and after many long weeks of monitoring, their daughter, Emma, was born 6 weeks early via C-section. "The doctors were puzzled by Emma," Mark and Lauren recall. "She had low muscle tone, was very sleepy, and had no suck reflex."
After five weeks in the neonatal ICU, Emma was diagnosed with Prader-Willi syndrome. "The doctors and therapists who had been working with Emma cried during the big meeting when they told us the news, says Lauren. "They acted like this was the worst thing that could happen. When we read about PWS, we better understood their reaction." The Roths soon took Emma home, knowing more about PWS than they did their new baby. "We took care of her, fed her through a tube, used oxygen when necessary, and waited for bad things to happen."
As each day Emma woke up a little more and became stronger, the Roths read about PWS and researched what, if anything, could be done. They tried traditional and alternative approaches with mixed success. Meanwhile, Emma became "her own little person," laughs Mark. "At age 2, she began to talk. We got to see and hear all of the things that had been going on in her mind....and there was a lot in there!"
Several years ago, the Roths joined the Foundation for Prader-Willi Research, and in 2004, Lauren became the vice president of the group. "Being in FPWR has been an extremely positive and healing experience for all of us," say Lauren. "The work we do with FPWR is one of the things we are most proud of."
Today, Emma is a thriving young girl who has taugh ter her parents many things. "We expect a lot from her, and she surprises us with her perserverance and her willingness to try new things. She has a great sense of humor and loves to sing and dance. She has completely changed our lives and the way we look at the world. She has taught us about acceptance, living in the moment, and changing expectations."
Of their work in FPWR, Mark and Lauren say, "When Emma gets old enough to understand PWS and the struggles that she will face, we can tell her that Mom and Dad are doing everythig that they can to make PWS a non-issue in her life, and that we are happy to do it."
