Child suffers from rare seizures disorder

Sitting in his wheelchair, 10-year-old Alex Mutz slowly slumped back, turned his body to the side and let his jaw drop.

The medications he takes every day stop the shaking, but his mother had seen it enough times to recognize it for what it was. Alex was having a seizure.

"It's very normal for Alex to seize four, five times a day," Amy Mutz said, rubbing his shoulder with a comforting hand as the seizure began to pass. "This is not unusual for him at all."

Alex suffers from a genetic disease so rare, doctors were unable to diagnose him for the first nine years of his life. His parents knew he would never be able to walk or talk, but were unsure of what was causing his constant seizures, and they still do not know his life expectancy.

But far from distraught, they said the generosity of their home community of Vernon has allowed them to improve his quality of life, pay his medical bills and equip their house so Alex can live at home, not in a hospital.

"Without this community, we probably would have fallen," said Alex's father, William Mutz. "With their love and compassion, they have propped us up."

Alex has Aristaless Related Homeobox (ARX) Syndrome, a genetic disorder that often manifests itself in epilepsy, mental retardation and dystonia, or involuntary muscle movement.

Not everyone with ARX Syndrome shows all of these symptoms, but Alex has one of the most severe cases.

"Alex is one of the more severe children that I've treated in my career," said Dr. Stephen Thompson, chief of pediatric neurology at Hackensack University Medical Center. "And his seizures and muscular problems, unfortunately, are not going to go away. This is a life-long genetic condition he is facing."

Bill Mutz, a Vernon police officer, first noticed something was wrong with his son when he was three-and-a-half months old, when Alex suddenly stopped crying and started shaking.

"I picked him up, and holding him there, I knew he had a seizure," Bill said. "I'd never seen one before, but I knew."

Alex was taken to Morristown Memorial Hospital, where his family was first told that the seizures would continue for the rest of his life.

"The doctor took us into a room and told us he'd never go to school, he'd never go to the prom, he'd never have a girlfriend," Bill said. "Basically, that he'd never have a normal life."

But for years, Bill and Amy did not know exactly what Alex was suffering from. Although they knew he had epilepsy, it was only in September 2005 that the ARX Syndrome was discovered, when Alex was flown to the Hackensack Hospital due to almost uncontrollable extended seizures.
"At that point, we really thought he wasn't coming home," Amy said. "We really thought we were going to lose him."

The dystonia that led doctors to discover the ARX was actually concealed for years by the seizures. Alex's doctors and parents never discovered it because they believed the involuntary muscular movement were simply caused by the seizures.

"His head, arms and legs would just rock back and forth," Amy said. "Sometimes, it would happen so much that he would be rubbing his skin raw."

Dr. Stephen Thompson described ARX Syndrome as an "exceedingly rare condition." He said only about 3 percent of American children suffer from a seizure in their childhood, and the number of those who experience ARX is far less than that.

The disorder is genetic, but Alex's condition is the result of a "spontaneous mutation." Neither of his parents carry the genes that result in ARX, and neither of their other two children —son Jadon, 6, or daughter MaKenna, 2 — have it.

"Without question in my mind, the only reason Alex is doing as well as he is today is because of his parents' excellent care," Thompson said. "They're keeping a chronically ill child in their home with the rest of the family, and they are maintaining a great quality of life under very difficult circumstances."

Bill had built a 115-square-foot customized bedroom for Alex, equipped with a medical oxygen supply, a hospital bed, feeding tubes and a meter to measure Alex's oxygen and heart rate. Bill also expanded the bathroom by 36 square feet and customized the shower tub so Alex could use it.

But Bill said credit belongs not to him but the community who has provided him with emotional and financial support.

All of the $15,000 needed for the house adjustments was provided by fundraisers from the Vernon Volunteer Fire Department, the Vernon United Methodist Church and the Gooch's Garlic Run, a yearly motorcycle-run fundraising event from the international law enforcement organization, the Blue Knights.

"When you look at all these people raising money for people they don't even know, and expecting nothing in return, it's a beautiful thing," Bill Mutz said. "It's really given us hope."

The fundraising efforts have also helped the Mutz family pay Alex's extensive medical bills, but they said the emotional support — from prayers and words of encouragement and offers to baby-sit — have been equally helpful.

"This is why the church exists," said Alec Park, pastor of the Vernon Methodist Church. "Why else does a church exist if not to alleviate suffering and help people under heavy duress?"
Doctors have not been able to determine a life expectancy for Alex.

"There's no answer to that, that's why we take it day by day," Amy said.