One family's story of hardships, triumphs with son who has rare craniofacial disorder

One family’s story of hardships, triumphs with son who has rare craniofacial disorder

By: Sean Dooley, Jennifer Joseph & Lauren Effron for ABC News

It was a frigid February night in New York City when Magda Newman was in labor with her first child. With her husband Russel Newman by her side, she labored for nearly 17 hours before giving birth to their son.

But when she finally delivered, the couple’s moment of expected happiness quickly turned to anguish.

“I don’t remember fainting, but I certainly remember screaming… ‘Oh my god, oh my god, what happened? What’s happened? What’s happening?” Russel said.

“I saw just shock on people’s faces, big eyes, and I [asked], ‘What’s going on here? Who—what happened?’” Magda said. “And I see them put him [her son] in a little back room. There’s 20 people running in there, doing something. I don’t hear [the] baby crying.”

Magda said the room was filled with silence, and no one was saying anything to her about her newborn baby. At first she said, she thought he was dead.

“I’m like, ‘What’s going on? Is he alive? What’s going on? I want to see the baby,’” she said. “And they didn’t want to show it to me.”

“I think they were scared at first,” Russel said. “Because he had no cheekbones and no upper or lower eyelids… just completely disfigured.”

The baby also wasn’t breathing. Magda Newman was left on the delivery table as doctors worked to save her son’s life.

Russel Newman said one of the doctors called him out of the delivery room to show him a textbook. He said the doctor flipped open a page showing a black and white photo of a teenager with Treacher Collins syndrome. Treacher Collins is an extremely rare congenital craniofacial disorder caused by mutations in the POLR1C gene. It affects an estimated 1 in 50,000 people in the United States. The diagnosis did not show up on any of Magda’s pre-natal scans – a common occurrence in cases of Treacher Collins.

“And I remember thinking, ‘That’s going to be my kid?’” he said. “It was surreal.”

Nathaniel’s first year

The Newmans’ named their baby Nathaniel and contacted the Institute of Reconstructive Plastic Surgery (IRPS) at New York University Langone Medical Center, a leading hospital working with children who have Treacher Collins. They left a message and within hours, they received a phone call back from Shelley Cohen, a speech and language pathologist.

“I said… ‘Hello. Who’s this?’” Russel said. “She goes, ‘It’s Shelley Cohen. Congratulations.’”

“That was the first person who said to us, ‘Congratulations,’” Magda said.

Before Russel could say anything else, he said Cohen said to him, “Hey, Mr. Newman, you had a baby boy, I heard. That’s wonderful.”

“And I remember going, ‘Are you freaking nuts?’” Russel said. “And she said, ‘Let me just tell you, your son is going to live a long, healthy, happy, wonderful life.’ And I believed her.”

Nathaniel was transferred to the neonatal intensive care unit at NYU, where he spent the first month of his life. Pat Chibbaro, a pediatric nurse practitioner who worked with the Newmans, said they were “absolutely devastated.”

“Families will say, ‘Well, when is the surgery? When is the surgery, that’s going to make this all… go away,” Chibbaro said. “And unfortunately… It’s a journey. It’s not a surgery.”….