Streamlining Care for Patients with Neurofibromatosis Type 1

Patients with neurofibromatosis type 1 (NF1) who have complex medical needs requiring the care of multiple pediatric specialists can turn to a new resource at Children’s Hospital of Philadelphia (CHOP).

The Neurofibromatosis Multidisciplinary Clinic, a service of the Neurofibromatosis Program, allows patients with NF1 to see three or more specialists in one day, allowing for a seamless flow of appointments from morning until afternoon. Nearly all appointments occur in one location. Visits throughout the day are managed by a clinic coordinator, so the patient and family need only to show up, with no need to manage a complicated schedule on their own.

Participating providers are highly specialized in the care of patients with NF1 accompanied by co-morbid or secondary conditions within their given specialty. The team is highly collaborative, preventing common challenges in the management of NF1 patients, including fragmented care, loss to follow-up, and duplicate work-ups. No other clinic offers the same collection of pediatric services in one location.

“Comprehensive evaluation in a single day has resulted in the diagnosis and immediate implementation of services and support for several of our patients since the clinic was first established,” says Michael Fisher, MD, Director of the Neurofibromatosis Program at CHOP. “We have had a few patients attend who were previously lost to follow-up due to the financial stressors of unpaid work days and transportation costs. Following up with all specialists in one day allowed these children to receive the recommended monitoring and care,” he adds.

For one CHOP family, availability of this clinic meant they finally had a chance to take a dream vacation. Instead of using all five of their daughter’s permitted school absences to take her to appointments with each specialist, they spent just one day getting all of her visits done. And the remaining four? They used those for a long-awaited trip to Disney World!

What we offer

Children eligible to be seen in the NF Multidisciplinary Clinic include established CHOP patients with confirmed NF1 who are followed by an NF1 specialist in either General Pediatrics or Neuro-oncology.

Appointment options include:

• NF specialists — routine annual visits and MRI review
• Ophthalmology and Neuro-ophthalmology — routine annual visits and visual assessments
• Neurology — ADHD, learning disabilities, autism spectrum disorders, behavioral concerns, seizures and sleep disorders
• Orthopaedics — scoliosis, pseudoarthrosis and other bone issues
• Neuropsychology — offering one-visit interventions to help families devise and implement solutions to challenges with executive functions (attention, initiation, inhibition, memory, processing speed, planning, organization, flexibility, self-monitoring, time management and emotional control)
• Social Work — addresses school concerns such as getting 504 Plan accommodations in place or helping with Individualized Education Plans (IEPs), transitioning to adulthood/college/workforce, coordination of services, referrals to pertinent government, and community resources
• Developmental and Behavioral Pediatrics — specializing in developmental delays, autism spectrum disorder and behavioral concerns

Referring a patient

For patients who are new to CHOP and NF1 is suspected but not confirmed, they should be referred to Elaine H. Zackai, MD in the Division of Human Genetics by calling 215-590-2920. 

For patients who are new to CHOP and NF1 has been confirmed via genetic testing or clinically by a specialist, they should first be established with a CHOP NF provider. 

• Concerns for tumor(s), refer to Neuro-oncology by calling 267-426-0762
• No concerns for tumor(s), refer to Rachel Hachen, MD, in Pediatrics by calling 215-590-0312

For those who are established patients of one of CHOP's NF specialists, a referral can be made directly to the NF Multidisciplinary Clinic. Existing patient families should contact Ashley Armata at chopnf@email.chop.edu.