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Family takes up cause of Batten disease

Tuesday, September 10, 2002

By Deborah Weisberg

Up until two years ago, Zach Balog, now 6, was a robust child never bothered by so much as an ear infection.

Susan Balog with Joshua, 4, and Steve Balog with Zachery, who's 6. Both parents are carriers of the gene for Batten disease, but only Zachery has developed it. (Matt Freed, Post-Gazette)

"He was slightly behind in his speech," said his father Steve Balog, 36, of Cranberry. "But he was off the charts in height and weight, so his not being able to string words together was no cause for alarm."

Then the seizures started, and unexpected trips and falls. A month after he was put on anti-seizure medication, Zach had trouble walking alone. As his balance and coordination deteriorated, so did his ability to speak and to see. He was shuttled from one doctor to another, each of whom ordered more tests. The mystery only deepened until a neuro-ophthalmologist found the decisive clue: a bulls-eye shaped dot on the retina of both eyes -- an indication of retinal deterioration.

Zach had late infantile Batten disease, a rare and fatal genetic disorder whose victims -- just 500 worldwide -- can expect to live about 10 years.

"It was horrible," said his mother Susan, 36, a former pharmaceutical company representative, of the diagnosis. "You think, cancer or more common things. But this was a real shock."

Batten is one of 40 of what are called lysosomal storage disorders. In these disorders, including the more common Hunter's disease or Tay-Sachs syndrome, the enzymes that break down fats, proteins and sugars in cells are lacking, which gradually halts brain development. Both Steve and Susan, high school sweethearts who grew up in Butler and dated through college, carry the Batten gene -- a remarkably rare coincidence. This gave Zach a 1 in 4 chance of developing the disease.

His younger brother Josh, now 4, is a carrier but tested negative for the disease.

While there is no treatment or cure for Zach, the Balogs have reason to hope.

In researching Batten on the Internet, they got to know Greenwood, Ind., dry cleaner Phil Milto, who has two sons with the disease. He is raising money for research into treatments.


More information

For details about the golf outing, which includes a $1 million cash hole-in-one prize, call 724-452-4330 or e-mail the Balogs at sbalog@stargate.net.
For information about Batten Disease, visit www.nathansbattle.com.


Milto a year ago established the Nathan's Battle Foundation, named for his eldest son, who's 8, and hopes researchers at the Cornell University Institute of Genetic Medicine will extend their gene therapy investigations to Batten disease.

There, ground-breaking research is under way into what's described as "using genes as drugs" to treat cystic fibrosis, the hereditary disease of the respiratory tract, as well as other diseases.

"They had a good mouse model for a similar genetic disease," Milto said.

But Cornell needs money to begin the Batten research, as much as $2.5 million to $3 million to manufacture and test the gene therapy, Milto said.

Through charity golf outings and races, black tie dinner benefits, and even fund-raising performances by Ringling Bros. and Barnum & Bailey Circus, the foundation has so far raised $1.7 million.

The Balogs and two other families affected by Batten, one in California and the other in the United Kingdom, have joined his cause. The Balogs have raised about $120,000 through concerts, dinners and mailings. They hope a Sept. 14 golf outing at Pittsburgh North Golf Club will generate their greatest contribution yet.

Cornell researchers could not be reached for comment, but Dr. John Barranger, medical director of the Molecular Medicine Institute at the University of Pittsburgh, also is researching the gene transfer approach to Batten disease.

Pitt is developing different vectors, or modified viruses, that would transfer the beneficial genes into the nervous system.

"That would correct the biochemical defect," Barranger said. "Gene therapy would add another gene, not fix the 'bad' cell. Genes are being cloned, and what we have been developing is the vectors that would work well and could be made in large quantities."

He cautioned that all work in this area is in the early clinical stage, with development of any effective treatment years away.

"Families have hope. People need hope. At the same time, they don't need false hope," he said. "It's not right to raise the expectations of families with afflicted children."

There's no guarantee that Zach or Milto's children would be selected for future clinical trials. In any case, Milto and the Balogs plan to ask the Food and Drug Administration for "compassionate use" of any developed drug, which would enable their boys to receive the therapy, even apart from the trials.

"I realize my children may not benefit from this," Milto said. "But others may. What drives me is when I go home every night and look at my kids."

The Balogs also are driven by hope.

"You have to be," said Susan. Her son receives weekly therapy and continues to grow. He now weighs 50 pounds. He is given anti-seizure medications and a high-fat, or ketogenic, diet sometimes prescribed for people with epilepsy, through a feeding tube. He cannot walk or talk, can see only differences in light and dark, and has lost most of his motor skills.

He has good days and bad, she said. "We do the things most families do; we just do them in a different way. We read to him and we play music, which Zach likes. He smiles and giggles. We take both kids with us when my husband and I go to the driving range." The family recently returned from the seashore.

"It's amazing when you see other families out doing things, how much they take for granted," Steve Balog said.

"You know, we used to think we had it all -- a great marriage, a good house and two kids. Now getting Zach well is all that matters."

Deborah Weisberg is a free-lance writer who covers health issues

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