Photograph by Jacqueline Ramseyer
Family Support: Natalie Aurelio, 11, has been battling Batten's Disease since she was 3 years old. Her parents, Liz (shown) and Dave, set up The Natalie Fund in 1995 to help raise money for research and treatment of the disease.
A Willow Glen family has raised $700,000 to save their daughter
The Natalie Fund's goal is to find a cure for Batten Disease
By Moryt Milo
Advancements in gene therapy may finally bring Dave and Liz Aurelio the answers they are desperately seeking. Since 1993, this Willow Glen couple has been on a heartbreaking, yet remarkable, journey with their daughter, Natalie, who at age 3 and a half was stricken with a rare brain disorder known as Batten Disease.
Today Natalie, 11, is wheelchair-bound and unable to see, speak or move on her own. But she has outlived Batten Disease victims' expected survival time--8 to 10 years--and the Aurelios are hopeful that 2002 will be the year for the start of clinical trials in gene therapy that could bring her a cure.
A little-known genetic disorder, Batten Disease affects one in 30,000 children. At the time of Natalie's diagnosis in 1995, there was limited interest in the disease or research funding.
The Aurelios, knowing the disease's ultimate outcome was always death, began looking for ways to raise money for research and treatment. Their first efforts were through a garage sale that netted $4,500. They then held a bowl-a-thon, which brought in $8,000. But they quickly realized that this method of fundraising would take too long, and time was a major factor in Natalie's survival.
In 1995 the Aurelios established The Natalie Fund, and in six years, the organization raised more than $700,000 through golf tournaments, marathons and public-awareness efforts.
"We were just a bunch of moms with kids who made it happen," Liz says.
But the disease's merciless speed has pushed the Aurelios into high gear, and The Natalie Fund has now united with scientific researchers and the National Institutes of Health to form a nationwide research alliance. Currently, the group is working toward a $2 million funding goal to launch clinical trials.
"All the clinical trials [at Cornell University's Institute of Genetic Medicine in Utica, N.Y.] will have been paid through parent funding," Liz says.
Although the timing of the trials and who will participate is still undetermined, the Aurelios hope Natalie will be considered as a candidate. But they are also realistic about her chances. Because the disease is so advanced within Natalie's body, she is not an ideal candidate. Trials are usually done on children in which doctors can see a measurable difference.
"Often, who receives treatment is contingent on how far along the disease is in the child," Dave says.
Even if Natalie is not put into the first trials, the Aurelios say they will push for compassionate use, hoping that researchers will conduct trials on children who are very ill.
The Aurelios' determination to bring Batten Disease to the public's attention has been unrelenting, and in late October the Aurelios were honored at the Association of Fund Raising Professionals Silicon Valley Chapter for their ongoing efforts in funding Batten Disease research, treatment and public awareness.
Although understanding the disease is critical to finding a cure, The Natalie Fund's predominant focus is to push for treatment instead of lengthy research toward a cure.
"It's important to understand the disease," Dave says. "But we want to find a way to stop the progress. We are looking for those in the medical community who are mavericks, like those who advanced medical treatment with the heart. The brain is really the last frontier."
Batten Disease is caused by a genetic abnormality in the brain. An essential enzyme--tripeptidyl peptidase--shuts down in young children, and the children quickly lose their motor skills, speech and vision.
"We have the science. We know the gene. You have the enzyme and know the mechanism. It's not that much of a leap," Liz, a registered nurse, says. "You have this risk, and then you have certain death."
In all cases of Batten Disease, children are born healthy, but depending on the nature of the child's genetic disorder, the enzyme will stop functioning either during infancy, the toddler years or late adolescence. It takes three years for the symptoms of the disease to appear.
Odds are one in four that if one child has the disease, a sibling may also have the disorder, the Aurelios say. But in Natalie's case her deteriorating health was a mystery because her older brother, Nick, was healthy.
For three and a half years Natalie was an active, healthy child. Then she began having seizures, and within a year she was no longer able to walk without assistance and had lost her speech.
"Doctors knew what was happening, but not the cause," Dave says. "Their response was to just make Natalie comfortable."
But the Aurelios needed to know why. While on layovers, Dave, a Northwest Airlines pilot, would search medical libraries throughout the country looking for answers. Ironically, the answer was not far from home.
"I was in PlaneTree [a nonprofit consumer medical library in downtown San Jose] and happened to read about Batten Disease," he says. "There were too many things similar to Natalie, and we brought it to the attention of a couple of doctors."
But one of the telltale signs of the disease is blindness, and since Natalie was not having any sight problems, several doctors didn't think it was Batten Disease. The Aurelios weren't convinced and found another doctor who saw too many similarities to rule out the possibility and confirmed the diagnosis.
Once the Aurelios knew the problem, the leap into fundraising followed.
Today Liz travels to medical conferences and talks about Batten Disease, hoping to find researchers who are interested in working on the disorder.
"You see your child, and he or she is perfect," Liz says. The child is starting to walk and then you know your child is going to get sick. This is when treatment would be best, before the damage starts."
The Aurelios say getting this far would never have been possible without the help of the community.
"The Natalie Fund wouldn't really exist without the support of people who really cared in Willow Glen, San Jose and Santa Clara," Liz says.
If you are interested in contributing to The Natalie Fund, call 408.448.2530, visit www.nataliefund.org or email dlaueri lo@sbcglobal.net.
Willow Glen, California Since 1992
