Parents hire own researchers to tackle rare, fatal disease
By Bonnie Miller Rubin
"These warrior moms are driving research and doing serious fundraising," observes Mary Dunkle of the National Organization for Rare Disorders. "They realize that if they don't save their child, no one else is going to do it."
HICAGO (MCT) When it comes to advocating for her 8-year-old son's serious illness, Gelse Tkalec is on a much lonelier path than those strewn with pink ribbons and yellow bracelets.
There are only 25 to 30 children worldwide known to suffer from Giant Axonal Neuropathy, or GAN, the disease that afflicts her son, Ethan.
The disease damages the nerve pathways that carry signals to the brain and from the brain to the muscles, claiming most victims by early adulthood. Already wheelchair-bound, the suburban Riverside, Ill., boy has difficulty swallowing and will use a feeding tube beginning next month. Eventually, he will be bedridden, trapped inside a failing body.
"After Ethan was diagnosed, people would say to us, "Don't worry, they'll find a cure," Gelse Tkalec said. "And I'd say, "You don't understand there is no 'they.' We are the 'they.'"
With so few afflicted with the disease, pharmaceutical and biotech companies have little financial incentive to study it. So parents such as Tkalec and others have taken it upon themselves to recruit scientists, underwrite clinical trials and raise money and awareness.
So far, they have funneled thousands of dollars to a few select scientists, including to a cellular biologist at Northwestern University Feinberg School of Medicine, to accelerate the glacial pace of biomedical research in time to rescue their children. In essence, they've hired their own, personal research team.
"These warrior moms are driving research and doing serious fundraising," said Mary Dunkle of the National Organization for Rare Disorders. "They realize that if they don't save their child, no one else is going to do it."
Robert Goldman works at Northwestern and has studied structural proteins of cells for 30 years. His lab was hired by parents of GAN patients to use his specialized research to unlock a molecular understanding of the disease and hopefully, a drug therapy.
Moreover, progress in studying GAN may offer new insights into more common neurological disorders. The sticky clumps of protein evident in GAN are similar to aggregated proteins seen in ALS and Alzheimer's, Goldman said.
The relationship between the families and their researchers is easy and informal. Goldman talks almost weekly with some parents, acting as consultant and answering questions such as "What do you think of this investigator? Is this a good use of our money?"
Last month, neurologists, stem cell experts and biochemists attended an international conference on GAN at the medical school in Chicago. The conference was led by Goldman and underwritten almost exclusively by parents, of whom seven attended.
During a break at the conference, the parents had a rare opportunity to chat up some of the brightest minds in the business, while the scientists interacted directly with people who benefit from their years of work in the lab.
"It has enormous impact," Goldman said. "I can tell you if it weren't for the moms, I just wouldn't be as involved."
As one researcher after another presented their findings, Gelse Tkalec dutifully took notes, struggling to grasp the finer points of aggregated proteins and defective genes. It's a stretch for a stay-at-home mom whose last science class was a quarter of a century ago at Proviso West High School, but she has thrown herself into the task with a palpable intensity.
"I learn more every day gathering information as I go, a little bit at time. Who else will do it?" she asked plaintively. "There's no one."
It was another mother, Lori Sames of Rexford, N.Y., who reached out to Goldman about two years ago. Her daughter was diagnosed with GAN in 2008 and clinicians told her it would take at least a decade and millions of dollars to discover a cure. Rather than take her home to die, she founded Hannah's Hope Fund to speed up the timeline to a treatment.
For about a year, Sames kept reaching out to Goldman, based on his work with proteins and research into progeria, another fatal childhood disease that turns children into octogenarians. Last year, Hannah's Hope provided $50,000 for Goldman's lab to get the ball rolling.
Because of funding from Hannah's Hope, Goldman said he has been able to develop GAN antibodies which are important for finding a breakthrough.
In January, Sames appeared before an FDA panel about the first gene therapy, an injection into the fluid surrounding the spinal cord that would attack the nerve cells and deliver a healthy copy of the GAN gene. Clinical trials could be under way by December, which Goldman said was "solely attributable" to the money raised by the GAN parents.
Sames sounds more like a PhD than a stay-at-home mother of three girls, the result of spending about nine hours a day on GAN business.
"It's my belief that there's a treatment for every one of these horrific, rare diseases, given sufficient attention and funding," she explained. "But scientists are so focused on the next funding cycle and getting the next grant that it detracts from developing a therapy."
Taxpayer-supported, government-sponsored funding through the National Institutes of Health has been flat for nearly a decade, according to Dr. Eric Neilson, dean of the Feinberg School of Medicine.
And the challenges for developing treatments for very small patient populations are even greater. It will fall to groups like the GAN parents to pick up the slack, experts said.
However, the National Organization for Rare Disorders cautions desperate parents about falling victim to scams or outrageous promises of a quick cure. The organization says it can help parents who want to sponsor independent research find credible scientists.
"We always tell people if it sounds too good to be true, it probably is," Dunkle said. "It's important to turn to reliable resources for trustworthy information and referrals."
It costs cell biologists such as Goldman about $500,000 to $1 million annually to run research laboratories, pay salaries and buy supplies and high-tech equipment.
Still, key discoveries are fueled by collaboration as well as cash. Pascale Bomont of Montpelier, France, discovered the gene which, when altered, is responsible for GAN. Steven Gray at the University of North Carolina is working on gene therapy to introduce a correct copy of the gene into patients, and Jean-Pierre Julien of Quebec is developing mouse models of GAN. All three presented at the Chicago conference and all have received financial support from GAN parents.
That partnership between researchers and families is emphasized by Dr. Stephen C. Groft of NIH's Office of Rare Disease Research, who said he's seen a "tremendous" increase in activism during the last five years.
"We've seen the expansion of the role of patient advocacy groups as true partners...Without them, research would take much longer."
Ethan was just 2 when he began showing symptoms of GAN. "He was tripping a lot," said Gelse Tkalec. "In our gut, we just knew that something was wrong."
But it would be another two years before a doctor at the University of Chicago, would give his awkward gait a classic characteristic of the disorder a name.
"Dr. (Kenneth) Silver just sat down with us, looking like he had seen a ghost. I asked if this was terminal . . . and he paused for a long time before answering, 'Yes.' All I could think of was 'Get me out of here.' We practically ran out of his office because we just didn't want to hear any more."
Tkalec came home and typed "GAN" into her computer. Nothing.
Six months later, after a trip to the Mayo Clinic in Minnesota where more specialists confirmed the diagnosis, the 48-year-old mother once again sat down at the keyboard. This time, she got a single hit: Hannah's Hope.
Slowly, Tkalec moved from screen, to phone, to full-on advocacy, starting a foundation last year called "All In For Ethan."
The Tkalecs have a long way to go before matching the Sames' fundraising prowess, which includes winning a Pepsi Refresh Challenge and a $500,000 check from Warren Buffet's sister. But there have been benefits at some local watering holes. Ames Elementary School in Riverside, where Ethan is in the third grade, raised $5,000.
"It's just been an all-out community effort, and we're so humbled by all this kindness and generosity," Tkalec said.
She brings out a photo of Ethan walking hand-in-hand with his dad, along Chicago's 57th Street Beach on Labor Day, 2005.
"I remember very clearly thinking that I should get a photo of this just in case it's the last time he walked like a normal kid. . . . And it was."
Ethan knows that he has a muscle problem but does not know the word GAN or its likely outcome. His parents have discussed when to tell him, but for now they're staying silent.
"We can't predict an outcome that who knows? may never come," Gelse Tkalec said. "You can never tell where the next lead is going to come from what will start you down the path to the next miracle."
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© 2012, Chicago Tribune. Distributed by MCT Information Services