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If your child has been diagnosed with neurofibromatosis, you probably have many questions about what it is and what comes next. Neurofibromatosis, commonly called NF, is a genetic disorder. There are two forms of NF (NF1 and NF2), and it’s important to know that they act and are treated very differently. Our team of NF specialists at Boston Children’s Hospital has special expertise in treating children with both types of NF.

Our expertise at Boston Children's

Our Multidisciplinary Neurofibromatosis team at Boston Children's Hospital offers comprehensive diagnostic evaluations, follow-up care, and genetic counseling for individuals with known or suspected NF.

  • Our core team includes two geneticists, two neurologists, a nurse practitioner, and a genetic counselor who have extensive experience treating children and families with NF.
  • Pediatric specialists from many different medical areas, including ophthalmology, endocrinology, and surgery, among many others, all of whom are familiar with the implications of NF in their area of expertise, join a child’s team as needed.
  • We offer unique clinical trials and treatment approaches through national research collaborations as well as studies we develop in our own research programs.
  • In addition to providing medical care, we support the patient and family’s emotional well-being by providing psychosocial support and educational materials.

What is neurofibromatosis?

Neurofibromatosis (NF) is a genetic condition. There are two types of NF:

A very rare, but related, condition is called schwannomatosis. Patients with schwannomatosis are also treated through the Multidisciplinary Neurofibromatosis Program at Boston Children's.

Our services

Our Multidisciplinary Neurofibromatosis (NF) team at Boston Children’s Hospital offers comprehensive diagnostic evaluations, follow-up care, and genetic counseling for individuals with known or suspected NF.

  • Comprehensive evaluations include a physical exam as well as review of pregnancy, medical, developmental, and family histories, to confirm or establish the correct diagnosis.
  • Genetic consultations with our genetic counselor explain the genetic and hereditary implications of NF for affected individuals and family members.
  • Long-term follow-up care is managed through at least one annual visit to the program. If patients or families have questions between visits, we welcome them to speak with our clinic coordinator or schedule additional appointments.

For children requiring additional evaluations, we offer direct specialty referral to renowned pediatric specialists at Boston Children’s with expertise in NF. We support and educate patients and families by giving them materials discussing the natural history and related medical issues of NF to take home. And, we maintain close relationships with the Children's Tumor Foundation and NF Northeast, both of which can provide information and support to families.

Our treatment approach

Neurofibromatosis (NF) is an unpredictable disorder. Many people with NF1 don’t have any major medical, developmental, or cosmetic issues. Others will face medical or developmental problems at some point in their life. Since we are unable to determine who may have an issue, what it may be, or when it may occur, we recommend close follow-up and evaluation of any problem as it occurs. This includes, at a minimum, a yearly evaluation in our program, as well as a yearly ophthalmologic evaluation.

Your child’s care will be overseen by a geneticist or pediatric neurologist at Boston Children's Hospital. If necessary, your child will have specialty consultations with pediatric doctors familiar with the implications of NF in the fields of:

  • Ophthalmology
  • Endocrinology
  • Orthopedics
  • Developmental Pediatrics
  • Neuropsychology
  • Neurosurgery
  • Neuro-Oncology/Medical Oncology/Radiation Oncology
  • Plastic Surgery
  • General Surgery
  • Audiology and Otolaryngology
  • Dermatology
  • Cardiology

If you have questions between your annual visits, you can always reach our scheduling coordinator and our clinic coordinator/genetic counselor at 617-355-6394. Additional appointments will be scheduled as necessary.