A Generation of Neurofibromatosis Patients Forging The Pathway To A Cure


Photo © Courtesy of Children’s Tumor Foundation

NF, Children's Tumor Foundation,

Imagine being told by your doctor that tumors are growing in your body. There are limited drug interventions available that might help, but they may also have no effect. Your pain can be treated, but not necessarily all of it. And it’s unknown if and where you’ll grow more tumors. Essentially, you’ll just have to wait and see what happens.

This is the reality for the 1 in 3,000 people around the world living with neurofibromatosis (NF for short), a genetic disorder that causes tumors to grow on nerves throughout the body and may lead to blindness, deafness, bone abnormalities, disfigurement, learning disabilities, disabling pain, and cancer.

This is a community of patients that, while used to hearing “wait and see,” is not one to sit back and do nothing. They read, learn, advocate, raise awareness, and raise money to fund research—patients like Jack Burke and Lilly Ann Brooks.

photo by Duane Codrington
Photo © Duane Codrington

One of my doctors once said, ‘Jack may have NF, but NF does not have him.’

Jack, now 15 years old, was diagnosed with neurofibromatosis when he was 2 years old. For Jack, NF has brought many challenges. He has an eye orbit tumor surrounding the left side of his face, which, at 6 years old, required a tumor debulking surgery and reconstruction. When Jack was 8 years old, he was diagnosed with an inoperable brainstem glioma, which led to a year of chemotherapy in second and third grade. Due to complications from this glioma, at the age of 10, he had brain surgery to relieve the pressure building in his brain and spinal cord. Two years later, it became painful and hard for Jack to walk, leading to a three-part surgery for each of his feet.

Jack sees well over a dozen doctors and specialists, has had more than 40 MRIs since his NF diagnosis, and sees a number of different types of occupational and physical therapists.

When Jack was 6 years old, he started a nonprofit to raise money and help kids just like him. The foundation, CureNFwithJack, has since raised millions of dollars for NF research. While still just a teenager, Jack is also an ardent public speaker, influencing both corporate executives and perfect strangers alike to invest in our vision to end NF. In November 2020, Jack received the Children’s Tumor Foundation’s National Humanitarian Award, honoring his commitment to our shared mission.

Neurofibromatosis, tumors, Children with tumors, fighting disease
Photo © Courtesy of Children's Tumor Foundation

I want to be a voice and an example for everyone with NF, that we are capable of accomplishing anything. We do not have to be defined by our diagnosis. We can define our own lives with everything we do.

Lilly Ann was diagnosed with NF when she was 18 months old and has tumors on her spine, neck, chest, and upper right arm. She suffers from severe scoliosis because of neurofibromatosis. But that has never stopped her. In June 2016, Lilly Ann joined a groundbreaking clinical trial that brought Koselugo (selumetinib) to market as the first FDA approved drug for NF, specifically for patients like Lilly Ann, who live with NF1 inoperable plexiform neurofibroma tumors. She has seen a 20 percent reduction in the size of her tumors.

Today, Lilly Ann is a sophomore at the University of Alabama, where she is also a proud Alpha Delta Pi sorority member. While accepting the 2021 NF Ambassador award at the Children’s Tumor Foundation virtual National Celebration Concert to End NF, Lilly Ann declared, “I want to be a voice and an example for everyone with NF, that we are capable of accomplishing anything. We do not have to be defined by our diagnosis. We can define our own lives with everything we do.”

Jack and Lilly Ann are part of a generation of patients taking their diagnosis into their own hands, and they’re doing so with the Children’s Tumor Foundation, a not-for-profit organization dedicated to finding effective treatments for the millions of people worldwide living with neurofibromatosis, a term for three distinct disorders: NF1, NF2, and schwannomatosis. There is one approved drug, Koselugo, for the treatment of inoperable plexiform neurofibromas, a type of tumor that affects a subset of NF1 patients, including Lilly Ann.

Discoveries from Children’s Tumor Foundation-funded researchers led to the development of Koselugo (selumetinib), which is an amazing first step. There is still so much more needed for the millions of NF patients, like Jack, who are still waiting for an effective, approved medication.

Visit ctf.org/globalheroes and join the fight to end NF.

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