Pinesdale mom looks to raise awareness of rare disease afflicting her sons
June 03, 2012 By DAVID ERICKSON Ravalli Republic – Missoulian
PINESDALE – It isn’t easy to rally support to find a cure for a deadly disease that only afflicts 28 people in the world.
And that’s a terrible dilemma to face for Charee Spencer of Pinesdale, because three of those 28 people are her children.
Her 5-year-old son Levi and her 4-year-old identical twins Aaron and Alan have been diagnosed with Giant Axonal Neuropathy, known as GAN.
The disease is a devastating genetic disorder that damages the nerve pathways that carry signals from the brain to the muscles. Almost always found in young children,GAN slowly causes its victims to lose control of their bodily functions.
Levi, who goes to Corvallis Primary School, is already losing the use of both his legs. He has to use a walker or a wheelchair to get around. Eventually, the disease will render him completely paralyzed. There isn’t anyone older than the age of 28 with the disease today, according to Spencer, and that person is a quadriplegic on a breathing tube. Most victims succumb before age 20.
Already, Alan and Aaron are losing their ability to walk. They both wear leg braces and have a slight shuffle in their gait. They both have also started vomiting frequently – another symptom.
Unless doctors can find a cure for this extremely rare disease about which very little is known – and soon – Charee’s sons will slowly lose control of their bodies, become bedridden and eventually die of it.
That’s why it is amazing how strong and positive she seems in the face of this storm.
“I’m just hoping the time doesn’t run out for us like it has for so many other people,” Charee said as she lifted Alan in her lap on Wednesday. “It’s just progressing so rapidly. It’s been a daily ordeal.”
Alan, Aaron and Levi all have extremely curly hair, which is another sign of the disease. Other than that, and their noticeable limps, they are perfectly normal children. They spent time Wednesday afternoon happily chasing each other around the house, pulling toys out of boxes and laughing. Charee has seven children: The other four are healthy and there is no family history of the disease.
Charee said she first noticed something was wrong with Levi when he was 2 years old.
“Levi started walking, and I noticed that he was walking weird,” she said. “His feet were sort of crippled up. And then he would get sick and throw up a lot.”
Charee took her son to a doctor in Hamilton, who referred her to another doctor in Salt Lake City. At first, they thought Levi had a different, curable disease. Charee had health insurance, but Levi’s treatment for a disease that he didn’t have was extremely expensive.
“Every time we took him in, it cost enough money to buy a new Porsche,” Charee said. After there was no sign of improvement, the doctors began to realize that Levi might have something more rare.
“I was actually doing my own research,” Charee said. “And I came to the realization that he had GAN at the same time the doctors in Salt Lake did.”
In fact, a simple Google search of GAN will bring up nothing about the disease.
“There just isn’t a lot out there,” Charee said. “Right now, I almost know more than the doctors know about it. I mean, there’s only 28 cases in the world and three of them are my kids.”
When Alan and Aaron were both diagnosed with GAN, Charee started desperately searching for some sort of treatment – anything that could help keep her kids alive.
In fact, there is only one advocacy group for the disease, called Hannah’s Hope Fund, that was started by the parents of a young girl with GAN. According to Charee, the last funded study about the disease was conducted by New York University, but that study ran out of money in 2006.
The first-ever scientific symposium on the disease was in 2008.
Because the disease is so rare, drug companies have very little financial incentive to research it or conduct costly clinical trials for possible treatments. That’s why parents like Charee have taken it upon themselves to find a solution.
Charee said the best hope right now is a complicated gene therapy treatment that involves spinal injections. That requires a lot of money and time, two things that all the parents of GAN patients don’t have a lot of.
“They first have to do a natural history study on GAN,” she explained. “That study tracks the untreated course of the disease, so they can measure that against the clinical outcome measures.”
The natural history study is expensive, and Charee said the founders of Hannah’s Hope Fund are overwhelmed.
“They just don’t have enough money or resources to handle every request,” she said. “But researching this disease will help all kinds of other rare diseases.”
Charee, with help from friends and family, has started a Facebook page called GAN Warriors dedicated to raising awareness about the disease and the plight of her children. She has also started a blog at www.ganwarriors. blogspot.com to update her daily struggles and triumphs with the boys. For example, on April 22, Charee’s friend Tiffany posted that Alan’s headache’s have been getting worse and he has been feeling dizzy.
“We’re just hoping to let people know what’s going on,” Charee said. “More publicity might mean finding a cure faster. We don’t have a lot of time.”