When tests revealed that 17-month-old Katie’s lack of motor skills, loss of speech and inconsolable crying signaled the onset of Rett syndrome, her mom Paige Nues, like many parents, began to grieve.
“Our world fell apart,” says Nues, a former sales and marketing executive who lives with her husband Jesse and three daughters in Danville, Calif. “We thought we had done everything right. We were educated, on the road to successful careers; had met, married, excitedly prepared emotionally and financially to start a family; exercised, ate right, took prenatal vitamins daily and went through every health check that was recommended. The diagnosis that this was just a random, genetic mutation that most often happens at conception left us with nowhere to turn, no one but the universe to get angry at, and just so completely devastated. ... I remember in the days following the diagnosis feeling absolutely shocked and astounded that the world kept turning, that it didn’t stop and take notice at this insult done to our Katie.”
In 2007, Nues became Family Support Director of the Cincinnati-based International Rett Syndrome Foundation (IRSF), a group that offered guidance when Katie, now 8, was still a baby.
Created in 2007 by the merger of two longstanding organizations, the IRSF raises funds for Rett syndrome research, supports families living with Rett syndrome, and advocates for individuals with the neurological disorder, which primarily impacts girls. The condition causes mild to severe disabilities ranging from hand wringing to motor impairment and respiratory problems. Like Katie, many children have seizures. Although there is no cure, kids with Rett syndrome can often learn independent skills such as using adaptive devices to communicate.
Since the merger, the IRSF has, says Nues, “enabled record-breaking levels of family support, an unprecedented cumulative spend on research, driven an accelerated pace of research, increased public awareness, provided greater visibility in Washington, D.C., and energized more families and friends to get involved and make a difference.” The IRSF is the country’s largest private source of funding for biomedical and clinical research on Rett syndrome and has raised nearly $5.5 million to date. Last year its signature Strollathons, held at 15 locations, raised nearly $1 million. (The next ones will take place in September and October in Cincinnati, Oakland, Roanoke, Va., and Wrightsville Beach, N.C.) Two major galas—Boston’s Festival of Food and Wine, and the Picture a Cure benefit at Sotheby’s in New York—have also drawn significant funding. In all, the IRSF hosted 75 events in 2009.
Family services include the New Parents Support Program; a website, newsletters, Facebook networking and other sources of information, daily tips and advice for caregivers; and education conferences that bring together parents and professionals from all over the world. There are also special-interest networks for dads, grandparents and parents of boys with Rett syndrome; participants can chat online about specific issues that might be overshadowed by discussions on the general listservs.
“The work ahead of us is extremely exciting,” Nues says. “It is very real, tangible and imaginable that treatments and significant reversal of symptoms is within our grasp. That is the prize that we keep in our sights at all times. We hope to double our fundraising year over year for the next five years so we can meet the need in the promise of real research discoveries. We hope to motivate policy makers to support the investment of time and resources into rare disease research, especially brain disorders like Rett syndrome.”
Katie is now in second grade. She spends part of her time in a special needs classroom and part in a mainstreamed setting with typical kids. Although she can’t walk, physical therapy is making her stronger and better able to stand for longer periods of time.
“I believe it is essential and empowering for parents to take the initiative to create a different future for our beautiful children with Rett syndrome than their genetic mutation dictates,” says Nues. “We don’t have to accept this as their destiny. And when I see Katie wake up every day with a smile on her face, and a light in her eyes to try at it again despite her challenges, I have to be able to look her squarely in the eye and tell her that I too am trying my best to help her overcome this.”
For more information about the International Rett Syndrome Foundation, see www.rettsyndrome.org. •
Nancy Henderson is an award-winning writer whose articles have appeared in Smithsonian, The New York Times, Parade, US Airways magazine and many other publications. She is the author of Able! How One Company’s Extraordinary Workforce Changed the Way We Look at Disability Today (BenBella Books). Nancy often writes about disability issues and people who are making a difference through their work.