DOWNERS GROVE – When Tracy and Jennifer VanHoutan's son Noah was diagnosed with Batten disease, a highly rare and terminal genetic disorder, it changed their world forever.
When their younger daughter Laine received the same diagnosis five months later to the day, it brought them to their knees.
But the way the family has responded could help thousands of others worldwide fight the disease before it's too late.
Noah developed normally as a toddler – playing, talking and showing interest in baseball. But when he turned 3, speech functions declined and he began to have seizures. What followed was more than a year of tests, and the eventual diagnosis just before his fifth birthday in 2009.
Children with Batten disease slowly lose motor functions and suffer gradual mental deterioration and vision loss until eventually succumbing to the disease.
Noah, 9, and Laine, 7, are now both confined to wheelchairs.
"They are definitely different kids than they were four or five years ago," Jennifer said. "They're both unable to walk and talk. They can't eat any more by mouth. They both have eating tubes. But we've found ways to communicate with them."
The couple's third child, Laine's twin Emily, does not have the disease.
After Noah's diagnosis, friends and family gave the couple the initial push they needed to spring to action with a neighborhood garage sale fundraiser, Jennifer said.
Ever since, the VanHoutans have devoted themselves to learning everything they can about the disease, and finding ways to raise money for research.
Through myriad annual fundraisers in Downers Grove over the past four years, the family's charity, Noah's Hope, has raised more than $250,000.
Because the disease is so rare – only about 450 children have it in the country – very little research had been done to develop treatments before the family became active, Tracy said.
"We just kicked it into high gear and realized we had to do something to figure it out," Jennifer said.
The VanHoutans have flown to international research conferences, met with research scientists, lobbied Congress and even testified before the FDA.
Most importantly, Noah's Hope has directly funded scientists working on treatments for the disease. One of those scientists, a Rutgers University researcher, has developed a possible treatment that is currently in clinical trials in Europe.
The family has also directed funds to a researcher at Rush University Medical Center in Chicago, recruited specially by Tracy to research the disease.
In the meantime, Jennifer said it's important to focus on loving every moment that their children are home. Special needs teachers have helped the family learn to communicate non-verbally, largely through yes-or-no questions.
"There are some points Noah and Laine like to make, and let us know they're here by raising their hands and blinking their eyes," Jennifer said.
The support from the community has been "amazing and incredible," Tracy said. "We've had shows of support from people just offering to do little things – make dinner or help with the kids. And certainly raising funds for the research we're doing has been huge."
Noah's Hope fundraiser planned for May 19 • Noah's Hope will host its fourth annual Run For Hope 5K and Fun In The Sun event beginning at 7 a.m. May 19 at O'Neill Middle School, 635 59th St. • Proceeds from the charity's events help support research for finding a treatment for Batten disease, a rare and terminal genetic disorder. • About 300 runners participated last year, and the charity hopes to see about 500 this year. Register at www.signmeup.com/90957. • Following the run, family activities continue on the school's grounds.