Fatal Disease Takes Kids' Vision, Mobility
While Children Suffer From Degenerative Disease, Parents Search for a Treatment
For Parents Looking for a Cure, Roadblocks Abound
Milto established Nathan's Battle Foundation, a non-profit biotech firm that raised millions to fund gene therapy trials at the Medical College of Cornell University, which has since developed a drug that has proven to slow the progression of the disorder.
A lack of funding for additional clinical trials for the drug – which in its first form succeeded in slowing the progression of the disorder – has halted its development.
Like Milto, Lance Johnson, the executive director of the Batten Disease Support and Research Association, said losing his daughter to the disease spurred him into action.
"When you get diagnoses like Batten disease all your hopes and dreams are shattered – they disappear into vapor," said Johnson, whose daughter Lorena died at age 22 in 1993.
Johnson said that Lorena began having vision problems at age six and developed seizures at age nine.
She went blind at age 13, was unable to walk at 15, lost her speech at 17 and by her 19th birthday was incontinent and hooked up to a feeding tube. At age 20, Lorena had lost her movement in her hands and fingers. She died two years later.
"She went from being a perfect little girl to the total other side of the spectrum," said Johnson. "The hopelessness that you feel as a parent when you see your child declining – I don't know how to describe it."
"The grief cycle just runs over and over again every time there is another loss of a function – the ability to walk or talk – the cycle starts over again," he said.
Johnson, who had once dreamed of becoming the president of the Ohio railroad he worked at, said that his daughter's diagnoses changed his path. Instead, he joined the Batten Disease Support and Research Association and helped it become the leading distributor of information about the disease as well as a fundraiser for research into treatments.
In addition to the gene therapy trials, a stem-cell therapy trial is also underway, said Johnson. The treatment is pending FDA approval before it can proceed.
"Just like gene therapy is looking for funding, we're looking for the FDA to approve us before anything else can be done," he said.
"I am optimistic," said Johnson. "We don't know which therapy will be the one that will work; it's possible that it could be a combination of therapies."
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