Finding Frankie: Lawrence boy part of first-ever treatment for NF1
Every day with 10-year-old Frankie Fergus is a gift.
"This kid has fought off 10 years of a medical diagnosis that wasn't gonna give him a chance to live," his father Fred said.
Frankie started having breathing trouble almost immediately after birth. No one knew quite why, until a baseball-sized growth on his neck made a doctor suspect NF1, or neurofibromatosis. It's a genetic condition causing tumors to grow around nerve fibers. It affects about one in every 3,000 people.
"I left the office and I just collapsed, I was on my knees, because we didn't know. We didn't know what it meant, we didn't know what the future was. We didn't know anything," his mom Jane recalled.
All they knew was doctors said NF has no cure, and no treatments for tumors that often are inoperable. The family was sent to a specialist in Philadelphia.
"They came in an said it's one of the most severe cases in a child this age that we've ever seen. He certainly will never walk. He'll never talk. He'll never have the abilities more than an infant," Jane said.
"Pretty much we were told go home, hold your child, and enjoy the time you have," Fred said.
They did do that - but they also decided to fight back.
At six months old, a doctor gave Frankie a trach to help him breath and a feeding tube for nutrition. Then, they waited.
"We knew this wasn't solving the tumor issue," Jane said.
By the time Frankie was six-years old, the tumors had grown beyond his trach, compressing his airway so much air was only getting throw a space the width of two dimes.
"It was basically killing him," Fred said. "These tumors were cutting off his airway so he was at a point where he wasn't going to be able to breath again."
Doctors can't simply remove the tumors because they're so wrapped up in his nerves and tissues. The only idea they offered was surgery to perhaps scrape away some of the growth. However, it could cause the tumor growth to accelerate, and it was possible Frankie would never leave the hospital, if he survived the surgery.
The continued search for answers finally landed the family at Cincinnati Children's Hospital, where, for the first time, they heard something else.
"Options - and hope," Jane said of their first conversations with the doctors there.
First, the Cincinnati doctors stented open Frankie's airway, keeping the tumors at bay so he could breath. They were buying time because they said a drug was in development that might be able to shrink the tumors - but it was still a year away from clinical trials.
In 2016, Frankie became Cincinnati Children's first patient in a clinical trial for Astra Zeneca's drug Koselugo, also known as selumetinib. The research was funded by Children's Tumor Foundation.
CTF president Annette Bakker, PhD, compared the genetic changes in NF1 to the brakes in a car.
"They have the front brakes but not the back brakes. Their cell division is still controlled, it's still kind of okay, but if they now lose the front brakes, then the car can't stop anymore, and cell division keeps going," she explained. "(The drug) is kind of like putting in some set of artificial brakes."
When Frankie started the trial, his parents say he was not very interactive.
"He didn't smile. He couldn't put his head up or down; he couldn't move left or right; he couldn't put his tongue in his mouth," Jane said, "but the breathing was the worst."
Three years later, his main tumors have shrunk 33 percent - more than enough to bring Frankie's smile back!
"The cognitive things just skyrocketed. Suddenly he has a personality," Jane said. "Before we started, his IEP was very social based at school, just making sure he has social time and getting to interact kids. And then, all of a sudden, the teachers were like - he knows something, he's learning! So we starting learning colors, and shapes, and sorting."
Not only that - Frankie has started walking.
"We went through so many years of hearing there's nothing we can do. Now, there's something that can be done. There's options," Jane said.
"We've always talked about hope, but this is not hope - this is real," Bakker said. "This drug works. We can end NF."
In mid-April, Koselugo became the first drug to earn Food and Drug Administration approval to treat children with NF1.
"It is a big victory for the NF community," Bakker said. "We can finally go now to the families and tell them that there is something."
Every day now brings new victories for Frankie. He finally can communicate, both with a device and some sign language.
"Signing 'I love you' was a fun one for us," Jane said.
Watching Frankie find his world, and his place in it, brings faith of a brighter future. They're opening the door not just for their family, but for others.
"That feeling of hopelessness is one of the worst feelings you can feel as a parent," Jane said. "Any little bit of hope makes a tremendous difference."
"Giving other families a chance to maybe fight this disease like we have is real encouraging to us," Fred said.
The drug isn't for everyone, and it is not a cure. That's why the Children's Tumor Foundation continues its work.
The organization is holding a "zoomathon" fundraiser on
and Facebook page with VIPs including Alec Baldwin, Martin Short, Jane Seymour, and some of the 'Full House' cast. It's at 6 p.m. CT Sunday, May 17, which is World NF Awareness Day.
Several landmarks worldwide also will light blue and green Sunday - NFs colors - to raise awareness. The Amelia Earhart bridge in Atchison and Evergy Plaza in downtown Topeka are among locations taking part.