Search for a cure: Boy’s family starts foundation for neurofibromatosis research
Imagine looking at your little boy and knowing that by the time he’s 10 or 11, he will have some tumors on his skin, but doctors can’t tell you if the growths will be minor or if they’ll disfigure him.
A family with roots in Blair County is dealing with that uncertain future, but they’re not waiting with their fear or hope alone.
They’ve decided to fight back by starting a nonprofit foundation to raise money for research to someday find a cure for the disease called neurofibromatosis.
In the words of one doctor who specializes in the dermal tumors, the growths usually come at the onset of puberty, which can come early for these kids. Just about every child with the disorder will get them, but the severity differs with each child, said Dr. Kaleb Yohay, a specialist in child neurology at Weill Cornell Medical College, New York-Presbyterian Hospital.
“Some will get just a few, and some will basically be carpeted from head to foot,” he said.
Those who are severely affected with literally hundreds of tumors all over their bodies, while not life-threatening, often will avoid society out of embarrassment, Yohay said. As adults, they continue to remain indoors most of the time, choosing careers that don’t require them to go outside much, he said.
Very little is known about neurofibromatosis, which affects about 1 in 3,000 people, Yohay said. The genetic disorder is usually diagnosed in childhood, most often by the time the child is 1. The diagnosis is usually made by detecting the physical symptoms that are associated with the most common form of the disorder known as NF 1. Symptoms include light brown spots on the skin, learning disabilities and bone deformities such as scoliosis (curved spine), he said.
That’s how doctors diagnosed Erin Borzellino’s son, Giorgio. Erin grew up in Duncansville and graduated from Hollidaysburg Area High School. Her parents, Ben and Cathy Stapelfeld, still live here, and her father is chairman and co-founder of New Pig Corp. in Tipton. Now married to her husband, Nick, and living just outside New York City, Erin looked forward to the birth of her son eight years ago, as did her parents.
But she said she knew almost right away things weren’t right with her newborn baby.
“He wasn’t meeting the developmental milestones even when he was 6 months old,” she said. “He wasn’t making eye contact.”
Borzellino and her husband were living in London when Giorgio was born.
They decided to move back to the United States soon after he turned 1. The doctors examined him, and at first thought his problem could be autism, Erin said. As he developed additional symptoms over the next few years, a neurologist made the final and correct diagnosis of neurofibromatosis.
“I knew nothing at all about it,” Erin said.
Stapelfeld said he and his wife were at first stunned to hear about Giorgio’s diagnosis, and like their daughter, they had never heard of the disease. But he said after they got over the initial shock, they were inspired by how both Giorgio’s parents and their little grandson handled the situation.
“They refuse to let NF define who Giorgio is,” Stapelfeld said. “Although he has many problems, he is a great kid and living a great life.”
Giorgio shows some of the symptoms Yohay described, Borzellino said. He has ADHD (Attention Deficit Hyperactivity Disorder), and he attends a special class at school, where he is in the second grade. He has shown signs of scoliosis and will probably have to start wearing a brace next fall, she said.
He tires easily and also gets frustrated that he has to go to a lot of doctors’ appointments, including having his eyes checked. Doctors say tumors also can grow internally, especially on his optic nerve, so they check his eyes frequently.
Yohay said the prognosis for people with neurofibromatosis varies with each case. Those with the most common type that Giorgio has, NF 1, usually develop some level of brain and spinal symptoms, as he already has, and some can develop high blood pressure, nervous system issues and problems with the endocrine system, he said.
The tumors that start to grow around puberty and will continue to grow throughout their lifetime may remain benign or become malignant, and in that case, pose a serious and possibly deadly threat, Yohay said.
“There’s a 10 to 20 percent chance that one of these tumors will become malignant,” Yohay said. “This is definitely an average life-span shortening disease.”
The Borzellino family has established a foundation in Giorgio’s name to raise money for research to fight the dermal tumors through drug therapy and someday maybe find a cure, they said.
“Eventually, we had to stop feeling sorry for ourselves and do something,” Stapelfeld said.