Neurofibromatosis Type 1: Conor’s story

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Sixteen years ago, when Conor was 4 months old, his mother, Miranda, expressed a concern to their pediatrician: His right eye seemed bigger than his left. The pediatrician agreed: “She thought it was worth an MRI and having us see a neurologist,” Miranda recalls. Thus began a medical journey that would cause Miranda, her husband, Rod, and Conor to travel from their home in South Carolina to Children's Hospital of Philadelphia’s (CHOP) Neurofibromatosis Program multiple times a year for all of Conor’s life.

Conor as a young toddler At that 4-month well visit, the pediatrician also noticed that Conor had many birthmarks — which were actually the marks known as café au lait spots that are a signal of neurofibromatosis type 1 (NF1). Those spots and a defect in one of Conor’s skull bones were his initial symptoms of NF1, a genetic disorder that affects all body systems and is associated with an increased risk of cancer as well as low-grade tumors of the nervous system, including tumors that form along the optic pathway and tumors of the peripheral nerves. While the tumors are not malignant, their fast growth can cause serious issues if they begin pressing against nearby vital structures. A few months after Conor’s diagnosis, another MRI revealed a tumor starting in his right eye’s orbit and reaching back into his brain.

‘The experts are in Philadelphia’

In South Carolina, Conor underwent two craniotomies to remove some of the tumor’s mass, the first when he was 8 months old and the second at 13 months old. The family, however, was unable to find a local plastic surgeon willing to work closely around the eye, and Conor’s next MRI again showed growth. “They said the experts are in Philadelphia,” Miranda recalls. So when Conor was 18 months old, they made their first trip to Philadelphia, and Conor was seen by specialists at Wills Eye Hospital and by James Katowitz, MD, a CHOP attending surgeon and the Director of Oculoplastic and Orbital Surgery in the Division of Ophthalmology.

Conor with Dr. Katowitz Conor with Dr. Katowitz “When we saw Dr. Katowitz, we knew we were in the right place,” says Miranda. At their first visit, he walked the family to the oncology clinic and found Jean Belasco, MD, an attending physician with a special interest in brain tumors and neurofibromatosis. “He said to her, ‘I want you to see this kid.’”

The family initially traveled to CHOP every two months. The tumor was growing back rapidly, and Conor was losing vision in his eye. “Dr. Katowitz said the best thing would be to take out the eye to be able to better reach the tumor,” say Miranda. Conor’s eye was removed, and for the next several years, he underwent multiple surgeries to decrease the size of the tumor and to reconstruct his orbit because the tumor had impacted the bone growth.

Conor also participated in three tumor-directed clinical trials over the years, starting with a CHOP-led study when he was 4 years old. “That gave us a year break from surgeries,” says Miranda. Although one of the clinical trial drugs helped Conor for only a limited period, overall that trial showed that in many cases, the drug shrank tumors associated with NF1 and improved patients’ quality of life. It became the first-ever therapy approved by the U.S. Food and Drug Administration for pediatric patients with NF1 who have tumors of the peripheral nerves.

Supporting NF patients in learning and behavior

Younger Conor with Dr. Belasco Younger Conor with Dr. Belasco Along with the top-tier medical care Conor has received at CHOP, “We’ve gotten tons of non-medical support,” says Miranda. Back when Conor was 7, Dr. Belasco recommended therapeutic horseback riding. “It’s been a game-changer. It’s a whole-body activity, so it has helped his core strength. And whatever his current physical abilities, they’re always able to adapt so he can participate in some form.”

To understand each child’s progress in learning and behavior, the NF Program asks families to complete a neuropsychology screening questionnaire. If any concerns are identified, the NF Program can determine the need for neuropsychological evaluation, school testing, or other referrals to support academics, behavior, emotions, and social skills. “The feedback from the evaluation gave us strategies for helping Conor get his ducks in a row,” explains Miranda. “He’s not affected from a cognitive or social standpoint — he’s in very advanced classes — but there’s some executive function issues. Organization is already hard enough for teenagers.”

Miranda herself has become part of the search for NF1 answers: Michael Fisher, MD, Chief of the Section of Neuro-Oncology and Director of the NF Program, is a member of an international collaborative group working to establish standards for NF clinical trials, and he recommended her for the parent representative committee. “I thought she’d be a great fit,” says Dr. Fisher. Miranda has found the experience deeply gratifying: “The fact that I can be involved in trying to do something about this disorder — that’s priceless. I see first-hand the passion of these researchers.”

Over the years, Conor’s appointments at CHOP have ranged from every few weeks to every couple of months. “We’ve never been bothered by the trip,” says Miranda.

It’s worth every single mile. I’m always impressed by the collaborative spirit at CHOP, the way everybody communicates with each other and with me. They make sure I’m part of the conversation.

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