This Sunday, millions of people will find comfort in the shared goals of raising awareness and finding a cure for an untamed genetic disorder.
In the midst of this growing population, perseverance and bravery are about as common as the disorder itself – though not nearly as hard to spot.
Meet Eston Mitchel Hooper. If that name sounds familiar, he’s my son. He’ll be two in July. Just like any other growing boy, he likes to run and play. He likes to get a little dirty. And just some of the time, he can be a bit mischievous. I bet you’d never guess Eston was born with a potentially devastating, and in some cases deadly, condition.
“Eston has neurofibromatosis,” says Eston’s mother, Kammy Hooper.
Neurofibromatosis, or NF for short, is a genetic disorder that can cause tumors to grow on nerves throughout the body.
But it doesn’t start that way. Not long after Eston was born, he had a noticeable brown spot on his chest. His mother and I didn’t think much of it. That’s where this condition, which affects one out of every 2,700 people, can be so tricky. As hard as it can be on the body, it’s often just as hard to spot and diagnose.
“We just thought it was just a birthmark,” says Kammy.
“A lot of these patients, they fly under the radar,” says Dr. Jeffery McGlothlin, Neurologist at the Cook Children’s Medical Center.
Eston now sees Dr. McGlothlin in Fort Worth. The Cook Children’s Medical Center is an organization dating back more than a century, with the goal of working to improve the health of children.
Dr. McGlothlin explains NF is caused by a defect in the gene that is supposed to suppress tumor growth, allowing tumors to grow in some very dangerous spots – like the brain or on the optic nerve, between the brain and the eyeball.
“So, even a benign tumor, if it’s pushing on your spinal cord, can cause you major difficulties and end up in a medical emergency,” Dr. McGlothlin says.
A disorder, with the potential to steal his sight, cripple his spine and even take his life started like this.
What we now know are Café au Lait spots, which is French for “coffee with milk” – a reference to their color – continued to pop up on Eston’s body.
This was our clue something was wrong. However, parents, here are some of the other signs your child could have NF – freckling in the groin or under the armpit, spots on your child’s iris, abnormalities in bone growth such as a curved spine, a slow-growing brain tumor – and finally neurofibromas, or what look like lumps on or under the skin.
Being aware of these symptoms could help your child overcome the struggles that go along with NF.
“I think we can mitigate problems,” Dr. McGlothlin says. “For instance, about half of my kids with NF have some sort of a learning struggle – a learning disability, if you will. And if we know about that at an early age, we can accommodate that disability so that the child can learn more effectively.”
Dr. McGlothlin is also a member of the Texas Neurofibromatosis Foundation – a group of people dedicated to providing support to families impacted by NF. They do this by working hard to back effective treatments through promotion and funding of research, and by raising public awareness.
“I want to let everyone know there’s hope,” Dr. McGlothlin says. “Our knowledge is growing, and growing exponentially. And if we can raise awareness and have people understand who has this and we can intervene perhaps in their lives, I think that’s going to be a remarkable thing that we’ll see in this generation.”
That first step of raising awareness is where the focus lies in the Hooper family. This is why we’ve chosen to share our little boy’s story.
“So many people don’t realize that it’s so common. It just took one person to bring it to our attention, so it was important that we could do the same for others,” Kammy says.