The Nation’s Largest Clinic for Neurofibromatosis Helps a Brave Boy Avert Life with a Breathing Tube

Author: NYU LANGONE HEALTH NEWS, NYU LANGONE HEALTH NEWS WINTER 2020

Published On: 02/07/2020

Dani and John Boyer knew there was a 50–50 chance that their children might inherit John’s disease. John was born with a genetic condition called neurofibromatosis 1  that causes benign tumors to grow on nerve tissue. Relatively rare, it affects about 100,000 people in the United States. Like many with the condition, John has had few symptoms, aside from some bumps on his skin, so the Boyers had little cause for concern. “For me, it’s a cosmetic issue,” he says. When their first son, Thomas, was born in 2006, his symptoms were so mild that he was 11 before he was even diagnosed.

Then came their second son, Nicholas, born in 2008. Nicky, too, has neurofibromatosis 1, but his experience has shown a far more harrowing side of the disease. The first sign of trouble appeared at age two and a half when a lump emerged on the right side of Nicky’s neck. Six months later, scans revealed a tumor compressing his spine so dramatically that it required emergency surgery to remove it, followed by two spinal fusion procedures to relieve scoliosis. “We had no idea how severe the disease could be,” says Dani.

Neurofibromatosis 1 is caused by a gene mutation that disrupts a cellular pathway common to melanoma and other cancers. It’s incurable; at best, doctors try to manage symptoms, which can vary widely. At NYU Langone Health’s Comprehensive Neurofibromatosis Center, experts in neurology, neurosurgery, neuro-oncology, otolaryngology, and other specialties converge to treat the condition at its most complex.

For Nicky, things got worse. By age 9, the tumor protruding from the side of his neck had swelled to the size of a grapefruit. An MRI revealed that it had expanded extensively inside his body, too, encasing his lungs and the blood vessels leading to his heart, along with the nerves that control swallowing and breathing. With the tumor deemed inoperable, a neurologist at another institution told the Boyers there was no way to stem its growth, and that Nicky would likely require feeding and breathing tubes within five years. “This is our little boy,” says Dani. “There was no way we were accepting that as a final answer.”

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