Almost a decade after becoming the first patient with Batten disease to undergo gene replacement therapy, Zachary Balog died at home Sunday in Cranberry. He was 17.
"We're very proud of Zach, of the fight that he fought," said his father, Steve Balog, who called his son a "pioneer" for the experimental treatment he underwent at Weill Cornell Medical Center in New York City in June 2004.
Batten disease, also referred to as Spielmeyer-Vogt-Sjogren-Batten disease, is a rare neurodegenerative disorder that affects roughly 2 to 4 births out of every 100,000 in the United States.
Like other victims of the disease, for the first few years of his life Zach seemed like a normal, healthy child.
"As a child, he loved 'Barney' and 'Blue's Clues.' He loved construction vehicles," his mother, Susan Balog, said, adding, "and his favorite foods were pizza and chicken nuggets."
When he was 4, he began experiencing seizures, soon accompanied by other common symptoms of Batten's, like poor balance and deteriorating eyesight and speech abilities.
Batten's is one of 40 or 50 known types of lysosomal disorders. In such diseases, the enzymes that typically break down or eliminate materials like fats and proteins are missing, so these substances build up in brain, eye, skin, and muscle cells. The buildup is what causes the gradual loss of eyesight, along with motor and cognitive skills.
The disorder is autosomal recessive, so both parents must be carriers of the recessive gene. Their offspring must inherit the gene from both parents, meaning he or she has a one in four chance of developing the disease.
The Balogs have a younger son, Joshua, 15, who is a carrier but does not have the disease.
When their son was diagnosed, the Balogs knew that they wanted to explore any and all possible treatment options. Through community fundraisers like benefit concerts and raffles, they raised around $250,000.
"We always had great support from our community -- really the whole region. There were total strangers coming to events. There was quite an outpouring," said Mrs. Balog.
The money represents a fraction of the cost of the research and the clinical gene therapy trial Zach ultimately underwent. Gene therapy introduces healthy DNA in the hope that it replaces or knocks out defunct genes, or at least helps to fight the disease.
"They believe [the gene therapy] slowed the progression of the disease," said Mrs. Balog, noting that Zach lived to be 17 and many children with the disease die around the age of 10.
There is still no cure for Batten's, though there is ongoing research in gene therapy and stem cell therapy.
In the last few years of his life, Zach's parents read to him and put on music for him daily.
"We miss him dearly -- taking care of him 24/7 for so many years, it's too quiet. Not hearing the machines going. It will be quite an adjustment," said Mr. Balog. "He was a great kid for the years we spent with him."
Mrs. Balog said Zach had taught her and her family "about the real meaning of life, the important things in life. The simple things are what really matter. Never take things for granted, because you never know what the day will bring."
"He's our hero."
Visitation will be held from 2 to 4 and 7 to 9 p.m. today at Devlin Funeral Home of Cranberry, 2678 Rochester Road. A Mass will be celebrated at 10 a.m. Thursday in St. Ferdinand Church, Cranberry.
The family suggests contributions to Nathan's Battle Foundation to help find a cure for Batten disease: www.nathansbattle.com.
Maggie Neil: email@example.com.