Still, the doctor recommended that Cullen’s mother, Kelly, make an appointment with the Dermatology Section at The Children’s Hospital of Philadelphia.
“We felt anxious in the weeks leading up to Cullen’s appointment, but we never expected the news we received,” says Kelly.
At that appointment, 1-year-old Cullen was diagnosed with neurofibromatosis type 1 (NF1). The genetic disease is often characterized by skin differences like café au lait spots. Cullen’s body, when viewed under a black light, was covered in them.
Children with neurofibromatosis type 1 and type 2 are at higher risk of developing tumors throughout the body, but especially in the nervous system. These tumors are commonly non-cancerous (benign), but can become cancerous (malignant). Even the benign tumors, though, can grow large enough to press on nerves, causing pain and weakness. They may even become life-threatening if they press on vital organs, and often require treatment.
The condition is also characterized by skeletal abnormalities, like scoliosis. Additionally, more than 50 percent of children with NF1 have learning disabilities that persist into adulthood, and many have behavioral differences and poor social skills, too.
“That first day, we were given some patient education materials and told what NF1 could look like for our sweet Cullen,” says Kelly. “We definitely left feeling overwhelmed and scared, even though we knew we were in good hands at CHOP.”
Finding hope and help from CHOP’s Neurofibromatosis Program
NF1 doesn’t affect all children the same way. Some may have very few symptoms or never develop tumors. Others will constantly battle cancerous and non-cancerous tumors, requiring multiple surgeries and other treatments. And as children age, there’s always the concern of managing complex social, behavioral and learning problems.
“Because there’s no way to know how the disease will manifest in each child, learning about the diagnosis can understandably cause a lot of anxiety for parents,” says Michael Fisher, MD, Director of the Neurofibromatosis Program at CHOP.
The program is one of the country’s oldest for the management of and research into neurofibromatosis. It brings together the expertise of leading physicians and researchers from various specialties — including genetics, oncology, ophthalmology, orthopedics, otolaryngology, neurology, and neurosurgery — who may be called on to care for patients with NF.
Cullen was quickly referred to the Neurofibromatosis Program. There, Kelly and her husband, Ken, began to learn even more about NF1 and how to best manage Cullen’s condition.
In the nine years since Cullen’s diagnosis, he has developed a few plexiform neurofibromas (benign tumors that grow on nerves) in his neck and on his spine, as well as an optic pathway glioma, a tumor of the visual system that may affect vision. So far, these tumors haven’t required treatment.
“We are monitoring Cullen’s tumors using MRI scans, and conducting regular ophthalmology evaluations and physical exams,” explains Dr. Fisher. “Fortunately, at his age, his risk of developing further problems caused by these tumors is low.”
Moving ahead with a positive outlook
Cullen has struggled to reach some developmental milestones. He has needed speech, occupational and physical therapy. He’s had help from CHOP’s Sleep Clinic and the Pediatric Feeding and Swallowing Center. And learning, along with all of the social complexities of being in school, remains a challenge.
“We still consider ourselves lucky, even with the challenges Cullen has faced, and the countless tests and appointments we need to keep up with,” says Kelly, revealing her optimism about her son’s condition.
Today, Cullen’s health remains stable. The 12-year-old loves playing with Legos and spending time with his older brother, Evan. Though he needs some support for math and writing, the 6th grader is reading at a 10th grade level.
“One constant we can always count on is CHOP,” adds Kelly. “Cullen’s team has really helped raise him. They taught him how to zip his jacket, to try eating different foods, and even how to sleep. For these everyday things most parents teach their children, we’ve had to rely on the support of doctors, nurses and therapists at CHOP.”
She adds, “Each person in the hospital has lived up to the CHOP reputation, from nurses to schedulers to the many specialists we see. They continue to be there for Cullen and have always had our backs as parents.”