ShareThisValerie and Chris Grady want so much for their two young sons, but from the outside looking in, it doesn't sound extravagant: To see their kids playing in the yard, running around at school, learning to recite their ABCs.
Yet it would take practically a miracle for that to happen, one they don't plan to stop pursuing until there's nowhere else to go.
Drew, 5, and Trent, 2, each inherited a gene that affects the body in devastating ways. Their family struggles daily with the effects of the infantile form of Batten disease, an extremely rare condition caused by mutations in the soluble protein of cells in the body.
Batten disease affects perhaps two to four children of every 100,000 live births worldwide. There is no known cure, although expensive options exist in pursuit of anything to at least slow the progress of the disease.
At least nine different kinds of Batten disease exist, all with different types of mutated genes, all fatal. Those affected in the early onset version experience decreased brain volume, progressive deterioration of nerve and muscle function, and often blindness.
The Gradys, who live Upper St. Clair, Pa., have had long discussions on the pros and cons of stem cell treatments in China -- which cost at least $30,000 per treatment with four treatments in the cycle. And they are considering participating in a gene therapy trial at Cornell University -- at a cost of more than $500,000 per child.
The Cornell study is currently $2.5 million short, said Grady, so the families of the five children accepted in November will have to make up the difference.
Neither treatment is covered by insurance and both have risks. According to Dr. Jon Cooper, head of the Pediatric Storage Disorders Lab at King's College in London, another approach uses enzyme replacement but it has not been cleared for trials involving humans.
The everyday expenses also add up, and many necessary items -- such as the special car seats at $1,000 apiece or a $300 pediatric life vest -- are not covered by insurance.
Even when equipment is covered, waiting for authorization can be frustrating, Grady said. A piece of equipment to help maintain Drew's gait when he walks, she said, took 14 weeks to arrive by the time it was approved by the insurance company.
"Once you lose your gait, it's not coming back," she said. "I wish I could have gotten it and battled with the insurance company later."
Insurance did pay for a $2,000 motorized wheelchair but that, too, was a back-and-forth struggle, she said. A general trust fund has been established for the boys' needs, and friends of the family are organizing a fundraiser Sept. 27 at St. Valentine Catholic Church in Bethel Park, Pa.
Little more than two years ago, the Gradys were a typical young family with typical concerns. Shortly after Drew turned 3, however, he began experiencing an escalating series of seizure activity.
Medication seemed to help, and adhering to a Ketogenic diet helped even more. Such a diet is high in fat and low in carbohydrates and is used to control seizures.
Drew eventually underwent vagus nerve stimulation implant surgery, in which a small battery sends electric impulses to the brain.
Their boys' father had experienced petite mal seizures as a child but outgrew them. The family clung to the expectation that this would also be the case for Drew, but his activity worsened.
"We were in denial," they boys' mother said. "We were constantly thinking it was something else."
More trips to specialists provided little explanation. MRIs and other tests showed that Drew had suffered brain volume loss, and he began having more than a hundred seizures a day.
"I began surfing the Internet for an hour and a half a night," said the boys' father, a high school physical education teacher.
Having another child provided a much-needed distraction from the constant worry: "We are so blessed with him. I probably would have curled up in a ball, but I had a 2-week-old baby I had to take care of when (Drew) started having seizures," Valerie Grady said.
Drew had begun dropping things, tripping over his feet. The family was told to take him to the Cleveland Clinic, where in March, they at last had a diagnosis.
"They had told us it was probably one of three things, and that (Batten) was the worst," they boys' mother said, holding the slender blond child on her lap as the family gathered around a table on the lawn of their home.
Shortly after Drew's diagnosis, they had his younger brother tested. The results were almost too much to believe.
Trent has speech-delay issues and is learning American Sign Language. But for now, he is a vibrant toddler, another towhead chasing neighborhood friends across the driveway.
Much of what has been done for Drew involves trying to halt the effects of Batten disease. In Trent's case, given more time, the family hopes to be able to forestall symptoms until an effective treatment is discovered.
But naturally, they have fears. On the family's Web site, www.gradysallstars.com, Valerie Grady wrote in her blog:
"It is heartbreaking to watch Trent push his brother's walker around, knowing that one day it will be his," she said.
(Distributed by Scripps Howard News Service, www.scrippsnews.com.)
Must credit Pittsburgh Post-Gazette
