Whether there’s a family history of neurofibromatosis 1 (NF1) or the diagnosis comes straight out of the blue, no parents are ever ready to learn that their child has a chronic and unpredictable condition. Many are left feeling overwhelmed, confused and uncertain. If this has happened to your family, we’d like you to keep in mind two things:

Many families have been down this path and learned how to help their children thrive, and you will too. Here at Boston Children’s Hospital, there are lots of ways we can help.

There’s a wide range of ways that NF1 can affect a child with the condition, but most kids don’t have the most serious complications and will lead healthy, productive lives. 

Neurofibromatosis 1 is a genetic condition that causes symptoms including tumors (called neurofibromas) formed from nerve tissue. While the tumors are usually benign (non-cancerous), they may be a concern if their location means that they’re pinching a nerve or otherwise interfering with other parts of the body.

  • NF1 isn’t rare - it occurs in about 1 in 3000 people, affects males and females equally and doesn’t differ among ethnic groups. It can affect any family.
  • Around 50 percent of all children with neurofibromatosis have inherited it from a parent – the other half has it due to a new, sporadic change in the NF1 gene.
  • Some symptoms of NF1 are age-dependent.   
  • It’s difficult to predict how anyone’s NF1 symptoms will progress.
  • Treatments are available to help manage the condition.

How Boston Children’s Hospital approaches neurofibromatosis

Our multidisciplinary Neurofibromatosis (NF) Program is a specialized clinic within the Division of Genetics that offers comprehensive diagnostic evaluations, follow-up care and genetic counseling for children, teens and young adults. We see over 700 patients with suspected or confirmed neurofibromatosis each year. We offer:

  • compassionate care that may extend through your child’s adult years as we continue to follow her closely
  • access to a broad range of subspecialties within Children’s, each of which has at least one person with special expertise in caring for patients with NF
  • a dedicated NF patient scheduling coordinator who helps coordinate your child’s appointments within the system
  • support  for your child’s and your family’s emotional well-being through access to psychosocial specialists and educational materials
  • unique clinical trials and treatment approaches through national research collaborations as well as through our own research initiatives

Our program has been designated a Children’s Tumor Foundation NF Center of Excellence, and as a member of the Harvard Medical School Center for Neurofibromatosis and Allied Disorders (CNfAD), our clinicians and researchers meet with colleagues from Massachusetts General Hospital and Dana-Farber Cancer Institute to discuss issues related to NF and host a yearly educational conference. Your child is in good hands with us.

Neurofibromatosis 1: Reviewed by Mira Irons, MD, and Nicole Ullrich, MD, PhD

© Boston Children’s Hospital, 2011