Although Rett Syndrome is one of thousands of genetic disorders, it is one of four that was able to be reversed in a lab. In 2007, researchers found a way to reverse it in lab mice, giving hope to many, such as the Nues family of Danville, whose daughter Katie was diagnosed in 2003. Yet, without funding, research to safely replicate it in humans needs more research. This is why Paige Nues is hoping to win a $250,000 grant through the Pepsi Refresh Everything project.
Rett Syndrome is a developmental disorder that affects mostly girls and is realized in infancy. While born normal, symptoms begin to appear anywhere from six months to two years after birth. Eventually, the girls lose the ability to walk, speak and use their hands. Other symptoms include seizures; digestive, heart, breathing and circulation problems; and sometimes scoliosis.
According to Paige Nues, Katie is one of three girls in Danville with the disorder, as well as one of dozens in the Bay Area and one of 400 in California.
A diagnosis will likely mean a lifetime of therapies and while these girls usually live into late adulthood, they aren't capable of independent living.
"It is the most severe form of an Autism Spectrum Disorder, but what is different for our girls, is that for the most part, despite their handicaps, they are incredibly happy and social people," Paige Nues said.
The same is true for Katie Nues, who was diagnosed at 12 months and turns 8 on Sunday, July 25.
"On a day when she's feels well, and is not having seizures or stomach problems, she's bright and extroverted," Paige Nues said. "She loves being around typical kids and being in the community."
Katie is the first of three girls for Paige and her husband Jesse. The impact of the disease on the family has been huge. In order to keep up with therapy appointments and care for Katie, Paige made the difficult decision to stop working.
"It was emotionally devastating," she said. "We had what we thought was the perfect child. We thought we had done all the right things. We met, fell in love and prepared emotionally and financially to start a family. You never think it will go wrong."
Yet, even with the diagnosis, Katie is fairly strong and healthy and has a good relationship with sisters, Melissa, 4, and Abby, 2.
"They don't know her any other way, she's just their big sister," Paige Nues said. "But they definitely know she needs extra help."
One day, Paige recalls, they were headed out for a walk in the neighborhood and Melissa was starting to ride a bike with training wheels. Someone said that Katie couldn't ride a bike, but Melissa said, "Yes she can, she just needs our help." And she can, since Katie has a specialty bike just for her.
While Paige said they try not to put extra responsibilities on the other girls, she said Melissa and Abby "have amazing wisdom and sensitivity about (Katie) already."
The Nues family has been working hard to raise awareness and funds for Rett Syndrome research, so it's only fitting that they are doing all they can to get the word out about the Pepsi Refresh Everything grant. Everywhere they go, whether it they go to the grocery store or the dentist, they bring fliers and ask people to vote for the project.
Currently, "Rett Research to Reality" is in sixth place, and only first and second place receive grant money. Voting can be done daily online through July 31.
"What's intense about this campaign is that it's a cumulative daily vote," Paige Nues said. "People have to be pretty committed. You don't just need a wide network, but one of people committed to put it on their Outlook to do everyday."
With help from a private foundation in Colorado called the Pioneer Fund, they are willing to match up to $1 million to help the International Rett Syndrome Foundation. If they win, the IRSF can put $500,000 towards research.
"What (the lab test) demonstration showed is that the damage done to Katie is reversible," Paige Nues said. "It's not just a cure for newly-diagnosed patients. A cure can be found; it is possible. It's not only possible for the next generation, but it's possible to help Katie today."
Source: Danville Express
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